| American Journal of Medical Genetics Part A: Volume 161A, Number 10, October 2013 |
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| “Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu‐Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome” Am J Med Genet. |
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| Small study yields big results for whole genome sequencing in autism diagnosis: Geneticists optimistic that findings could aid with early identification of disorder |
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| Opitz award paper spotlights brain overgrowth syndromes |
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| In this issue |
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| Table of Contents, Volume 161A, Number 10, October 2013 |
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| Hereditary Hearing Loss and Its Syndromes, 3rd Edition. Helga V.Toriello and Shelley D.Smith, eds. ISBN 978‐0‐19‐973196‐1. |
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| Twenty‐two survivors over the age of 1 year with full trisomy 18: Presenting and current medical conditions |
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| Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies |
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| A patient with the classic features of Phelan‐McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72‐Mb deletion in the 22q13.2 region |
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| Bilateral striatal necrosis in two subjects with Aicardi–Goutières syndrome due to mutations in <i>ADAR1</i> (<i>AGS6</i>) |
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| 9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? |
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| Long‐term follow‐up study for a patient with Floating–Harbor syndrome due to a hotspot <i>SRCAP</i> mutation |
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other ethnic groups |
| Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris |
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| Recurrent microdeletion 2q21.1: Report on a new patient with neurological disorders |
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| Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations |
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| Thricho‐rhino‐phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates |
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| Focal dermal hypoplasia without focal dermal hypoplasia |
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| Fraser syndrome due to mutations in <i>GRIP1</i>—Clinical phenotype in two families and expansion of the mutation spectrum |
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| Characterization of a 520 kb deletion on chromosome 15q26.1 including <i>ST8SIA2</i> in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy |
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| Low‐level mesodermal somatic mutation mosaicism: Late‐onset craniofacial and cervical spinal hyperostoses |
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| Refinement of the critical region of 1q41q42 microdeletion syndrome identifies <i>FBXO28</i> as a candidate causative gene for intellectual disability and seizures |
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| Mosaic microdeletion of 17p11.2–p12 and duplication of 17q22–q24 in a girl with Smith–Magenis phenotype and peripheral neuropathy |
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| Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns‐like syndrome? Report on patients from Indian Ocean islands |
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| A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation |
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| Longitudinal assessment of cognition and T2‐hyperintensities in NF1: An 18‐year study |
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| De novo exon 1 missense mutations of <i>SKI</i> and Shprintzen‐Goldberg syndrome: Two new cases and a clinical review |
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| Expanding the clinical phenotype of patients with a <i>ZDHHC9</i> mutation |
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| Interstitial deletion 14q22.3‐q23.2: Genotype–phenotype correlation |
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| Dysspondyloenchondromatosis without <i>COL2A1</i> mutation: Possible genetic heterogeneity |
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| Growth curves in Down syndrome: Implications for clinical practice |
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| Interstitial deletion of 2q24.2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction |
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| Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome |
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| Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations |
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| Complex chromosomal rearrangements causing Langer–Giedion syndrome atypical phenotype: Genotype–phenotype correlation and literature review |
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| Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract |
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| Novel association of neurofibromatosis type 1‐causing mutations in families with neurofibromatosis‐noonan syndrome |
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| Report of a patient with Temple–Baraitser syndrome |
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| Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including <i>PAX6</i>, <i>WT1</i>, and <i>PRRG4</i> |
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| Haploinsufficiency of interferon regulatory factor 6 alters brain morphology in the mouse |
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| Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability |
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| A description of spina bifida cases and co‐occurring malformations, 1976–2011 |
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✓ |
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| Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome |
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| American Journal of Medical Genetics Part A: Volume 164A, Number 1, January 2014 |
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| Who should control genomic data? |
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| In this issue |
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| Table of Contents, Volume 164A, Number 1, January 2014 |
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| Whole‐exome sequencing emerges as clinical diagnostic tool |
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| Potocki–shaffer deletion encompassing <i>ALX</i><i>4</i> in a patient with frontonasal dysplasia phenotype |
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| Orthopedics management of acromicric dysplasia: Follow up of nine patients |
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| A case of pancreatic agenesis and congenital heart defects with a novel <i>GATA</i><i>6</i> nonsense mutation: Evidence of haploinsufficiency due to nonsense‐mediated mRNA decay |
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| <i>WNT</i><i>10</i><i>A</i> mutations also associated with agenesis of the maxillary permanent canines, a separate entity |
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Thai |
| Our children are not a diagnosis: The experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18 |
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| Hepatoblastoma in a 15‐month‐old female with trisomy 13 |
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| Medial defects of the small pulmonary arteries in fatal pulmonary hypertension in infants with trisomy 13 and trisomy 18 |
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| Haploinsufficiency of <i>BMP</i><i>4</i> gene may be the underlying cause of Frías syndrome |
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| Non‐overlapping 22q11.2 microdeletions in patients with oculo‐auriculo‐vertebral spectrum |
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| After Angelina and the Supreme Court Decision, where do we go from here? <i>BRCA</i> gene testing in Rhode Island's Portuguese population |
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Portuguese population |
| Gómez‐López‐hernández syndrome versus rhombencephalosynapsis spectrum: A rare co‐occurrence with bipartite parietal bone |
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| Partial trisomy 1q41‐qter and partial trisomy 9pter‐9q21.32 in a newborn infant: An array CGH analysis and review |
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| Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability |
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| Somatic and germ‐line mosaicism of deletion 15q11.2–q13 in a mother of dyzigotic twins with Angelman syndrome |
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| Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia |
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Japanese |
| Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen muta |
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| Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region |
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| Surgical intervention for esophageal atresia in patients with trisomy 18 |
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| Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to <i>VPS</i><i>13</i><i>B</i> mutations |
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| Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome |
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| An open‐label pilot study of <i>N</i>‐acetylcysteine for skin‐picking in Prader–Willi syndrome |
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| Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1 |
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| Lucky |
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| Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome |
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| Late diagnosis of lateral meningocele syndrome in a 55‐year‐old woman with symptoms of joint instability and chronic musculoskeletal pain |
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| Waardenburg syndrome type 4: Report of two new cases caused by <i>SOX</i><i>10</i> mutations in Spain |
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| Combined immunodeficiency in a 3‐year‐old boy with 16p11.2 and 20p12.2‐11.2 chromosomal duplications |
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| A patient with a duplication of chromosome 3p (p24.1p26.2): A comparison with other partial 3p trisomies |
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| Hypoglycemia in Kabuki syndrome |
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| Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection |
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| Multiple café au lait spots in familial patients with <i>MAP2K2</i> mutation |
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| The childless man |
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| Classic phenotype of Coffin–lowry syndrome in a female with stimulus‐induced drop episodes and a genotype with preserved N‐terminal kinase domain |
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| Airway malacia in children with achondroplasia |
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| SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot |
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| A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome? |
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| Small mosaic deletion encompassing the snoRNAs and <i>SNURF</i><i>‐</i><i>SNRPN</i> results in an atypical Prader–Willi syndrome phenotype |
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| Autosomal recessive stickler syndrome due to a loss of function mutation in the <i>COL</i><i>9</i><i>A</i><i>3</i> gene |
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| Invited editorial comment—the human phenotype of germline <i>PIGA</i> mutations |
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| Frequency of prenatal cytogenetic diagnosis and pregnancy outcomes by maternal race–ethnicity, and the effect on the prevalence of trisomy 21, Metropolitan Atlanta, 1996–2005 |
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✓ |
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| A rural community's involvement in the design and usability testing of a computer‐based informed consent process for the personalized medicine research project |
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| Social conditions for people with Down syndrome: A register‐based cohort study in Denmark |
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| 17p13.1 microdeletion: Genetic and clinical findings in a new patient with epilepsy and comparison with literature |
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| 1p34.3 deletion involving <i>GRIK</i><i>3</i>: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay |
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| X chromosome exome sequencing reveals a novel <i>ALG</i><i>13</i> mutation in a nonsyndromic intellectual disability family with multiple affected male siblings |
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| Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters |
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| <i>WNT</i><i>10A</i> mutations account for ¼ of population‐based isolated oligodontia and show phenotypic correlations |
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| Aortic aneurysm and craniosynostosis in a family with Cantu syndrome |
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| Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females |
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| Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies |
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| Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome |
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| Expanding the spectrum of phenotypes associated with germline <i>PIGA</i> mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, an |
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| Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism |
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| Identification of a jumping translocation following pre‐implantation genetic diagnosis |
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| Pathogenesis of congenital diaphragmatic hernia: Additional clues regarding the involvement of the endothelin system |
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| CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome |
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| Risk of nonsyndromic cleft lip and palate in relatives of women with breast cancer |
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| A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload |
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| Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions |
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| Neurochemical evaluation of brain function with <sup>1</sup>H magnetic resonance spectroscopy in patients with fragile X syndrome |
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| A new case of a LUMBAR syndrome |
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| A clinical study of patients with pericentromeric deletion and duplication within 16p12.2–p11.2 |
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| Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask‐like facial syndrome |
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| Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat‐like phenotype |
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| Overgrowth syndrome associated with a gain‐of‐function mutation of the natriuretic peptide receptor 2 (<i>NPR2</i>) gene |
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| <i>ACVR</i><i>1</i> (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: Second report |
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✓ |
✓ |
Japanese |
| Enamel‐renal‐gingival syndrome and <i>FAM20A</i> mutations |
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| Genetic services and attitudes in primary care pediatrics |
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| In this issue |
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| Next‐generation sequencing may reduce cost and wait time for some genetic diagnoses: <i>Experts argue that clinical evaluation remains crucial</i> |
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| Table of Contents, Volume 161A, Number 12, December 2013 |
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| “Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate” American Journal of Medical Genetics Part A, Volume 149A, Issue 12, pages 2673–2679, December |
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| American Journal of Medical Genetics Part A: Volume 161A, Number 12, December 2013 |
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| States stress newborn screening for home births: <i>Initiatives emphasize education about the importance of bloodspot tests, hearing screens</i> |
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| Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness |
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| Screening of <i>TGFBR</i><i>1</i>, <i>TGFBR</i><i>2</i>, and <i>FLNA</i> in familial mitral valve prolapse |
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| Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non‐chromosomal, non‐syndromic alobar holoprosencephaly |
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| A case of trisomy 18 with exacerbation of seizures triggered by administration of valproic acid |
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| A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome |
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| A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis |
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| Co‐occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body |
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| A large‐scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment |
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| Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients |
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| Acute aortic dissections with pregnancy in women with <i>ACTA</i><i>2</i> mutations |
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| Family history and clefting as major criteria for CHARGE syndrome |
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| Trisomy 13 (Patau syndrome) and congenital heart defects |
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| Giant breast tumors in a patient with Beckwith–Wiedemann syndrome |
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| Hemiconvulsion–hemiplegia–epilepsy syndrome with 1q44 microdeletion: Causal or chance association |
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| Duplication of exon 2 of the GPC3 gene in a case of Simpson‐Golabi‐Behmel syndrome |
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| Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype |
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| Re‐writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type |
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| Ehlers–Danlos syndrome, hypermobility type: A characterization of the patients' lived experience |
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| Cognitive, sensory, and psychosocial characteristics in patients with Bardet–Biedl syndrome |
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| Hand and fibrillin‐1 deposition abnormalities in Loeys–Dietz syndrome—expanding the clinical spectrum |
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| TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia |
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✓ |
✓ |
families of Turkish origin |
| Isolated truncus arteriosus associated with a mutation in the plexin‐D1 gene |
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✓ |
✓ |
ethnic matched controls |
| Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2 |
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✓ |
✓ |
different ethnic origins |
| Embryonic left–right separation mechanism allows confinement of mutation‐induced phenotypes to one lateral body half of bilaterians |
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| Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation |
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| A description of a fetal syndrome associated with <i>HNF1B</i> mutation and a wide intrafamilial disease variability |
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| Exome sequencing identifies a novel<i>EP300</i>frame shift mutation in a patient with features that overlap cornelia de lange syndrome |
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| The perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies |
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| Simpson‐golabi‐behmel syndrome: An X‐linked encephalo‐tropho‐schisis syndrome |
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| My memories of Dr. Giovanni Neri |
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| Annals of morphology. Atavisms: Phylogenetic lazarus? |
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| My memories of Professor Giovanni Neri: The cardiofaciocutaneous syndrome (CFC) |
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| American Journal of Medical Genetics Part A: Volume 161A, Number 11, November 2013 |
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| Table of Contents, Volume 161A, Number 11, November 2013 |
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| Extra chromosome in trisomy 21 silence d in stem cells: <i>Findings raise potential for new insights into Down syndrome and other chromosomal disorders</i> |
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| Short falls in treatment, management for pku raise concerns: <i>Lack of medical care, coverage for affected adults bolsters call for long‐term management of chronic conditions identified in newborn sc |
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| In this issue |
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| Ruptured omphalocele mimicking gastroschisis in a fetus with edwards syndrome |
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| Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects |
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| Interstitial deletion of 3p22.3p22.2 encompassing <i>ARPP21</i> and <i>CLASP2</i> is a potential pathogenic factor for a syndromic form of intellectual disability: A co‐morbidity model with additional |
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| Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis |
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| A patient with a unique frameshift mutation in <i>GPC3</i>, causing Simpson–Golabi–Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle |
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✓ |
✓ |
Hispanic |
| Congenital heart defects in oculodentodigital dysplasia: Report of two cases |
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| Perspectives on RAGE signaling and its role in cardiovascular disease |
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| Historical perspective on developmental concepts and terminology |
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| Solving the puzzle of spinal muscular atrophy: What are the missing pieces? |
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| Epigenetics, fragile X syndrome and transcriptional therapy |
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| Developmental disease and cancer: Biological and clinical overlaps |
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| <i>MED</i><i>12</i> related disorders |
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| Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example |
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✓ |
✓ |
Belgian Flemish |
| Elements of morphology: General terms for congenital anomalies |
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| Biallelic <i>SEMA3A</i> defects cause a novel type of syndromic short stature |
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| The growing complexity of the intestinal polyposis syndromes |
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| Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: The masterpieces of the “Sansevero Chapel” |
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| Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci |
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| Editor's forward to special articles: Elements of morphology |
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| Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients |
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| PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow‐up protocol |
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| Similarity of geleophysic dysplasia and weill–marchesani syndrome |
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| The hutterite variant of treacher collins syndrome: A 28‐year‐old story solved |
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✓ |
✓ |
Hutterites, an endogamous Anabaptist group; Hutterite population; genetically isolated populations; |
| Polysomnographic findings in infantile Pompe disease |
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| Cornelia de Lange individuals with new and recurrent <i>SMC1A</i> mutations enhance delineation of mutation repertoire and phenotypic spectrum |
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| GH Therapy and first final height data in Noonan‐like syndrome with loose anagen hair (Mazzanti syndrome) |
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| Giovanni Neri |
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| Encomium: Giovanni Neri—Polyhedral and down‐to‐earth mentor |
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| Malformations among the X‐linked intellectual disability syndromes |
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| Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update |
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| 3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients |
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| High‐resolution analysis of copy number variants in adults with simple‐to‐moderate congenital heart disease |
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✓ |
✓ |
Han Chinese; ethnically matched controls |
| Fragile X syndrome: From protein function to therapy |
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| Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22 |
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| Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders |
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| Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies? |
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| <i>FOXP1</i> mutations cause intellectual disability and a recognizable phenotype |
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| Pediatric glaucoma terminology |
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| Sanfilippo syndrome, glucose‐6‐phosphate dehydrogenase deficiency and sickle cell/β<sup>+</sup> thalassemia in a child: The burden of consanguinity |
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| The AKT genes and their roles in various disorders |
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| Timing of diagnosis of patients with pompe disease: Data from the pompe registry |
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| Severe Pallister–Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies |
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| Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004–2011 |
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| Search for genetic modifiers of IRF6 and genotype–phenotype correlations in Van der Woude and popliteal pterygium syndromes |
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| In this issue |
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| Erratum: In the article by Gene S. Fisch, entitled “Nosology and Epidemiology in Autism: Classification Counts,” in. American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 160C:91– |
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| A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio‐facio‐cutaneous syndrome and a germline <i>BRAF</i> mutation |
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| Bone marrow transplantation in Schimke immuno‐osseous dysplasia |
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| U.S. supreme court decision paves way for better genetic testing |
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| Global Alliance to Create Standards For Sharing Genomic Data |
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| Table of Contents, Volume 161A, Number 9, September 2013 |
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| Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R |
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| American Journal of Medical Genetics Part A: Volume 161A, Number 9, September 2013 |
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| Exon skipping and severe childhood‐onset obesity caused by a leptin receptor mutation |
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| A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization |
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| Endocrine phenotype of 6q16.1–q21 deletion involving <i>SIM1</i> and Prader–Willi syndrome‐like features |
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| Maternal <i>FMR1</i> premutation allele expansion and contraction in fraternal twins |
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| A 3p interstitial deletion in two monozygotic twin brothers and an 18‐year‐old man: Further characterization and review |
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| Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two <i>De novo</i> deletions of HSA 4q32 and 4q34 involving <i>PDGFC</i>, <i>GRIA</i><i>2</i>, and |
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| Severe intellectual disability, West syndrome, Dandy–Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3 |
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| Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a <i>MYH7</i> mutation |
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| An unexpected aortic valve in trisomy 21 |
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| Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement |
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| More than meets the eye: The evolving phenotype of Weill–Marchesani syndrome—diagnostic confusion with geleophysic dysplasia |
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| Clinical and neurocognitive characterization of a family with a novel <i>MED12</i> gene frameshift mutation |
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| Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux–lamy syndrome) |
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| The phenotype range of achondrogenesis 1A |
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| Germline mosaicism does not explain the maternal age effect on trisomy |
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| Osteogenesis imperfecta, tricho‐dento‐osseous syndrome and intellectual disability: A familial case with 17q21.33‐q22 (<i>COL1A1</i> and <i>DLX3</i>) deletion and 7q32.3‐q33 duplication resulting from |
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| Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with <i>B4GALT7</i> deficiency and review of the literature |
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| A novel <i>SOX9</i> H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome |
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| Autism and epistemology IV: Does autism need a theory of mind? |
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| Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample |
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✓ |
✓ |
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European trio sample; Europeans; European descent |
| Silver–Russell syndrome due to paternal <i>H19</i>/<i>IGF2</i> hypomethylation in a twin girl born after in vitro fertilization |
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| Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review |
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| Management of hypogonadism in adolescent girls and adult women with Prader–Willi syndrome |
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| Dysregulation of <i>FOXG1</i> pathway in a 14q12 microdeletion case |
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| Homozygosity for a novel truncating mutation confirms <i>TBX15</i> deficiency as the cause of Cousin syndrome |
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| 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases |
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| <i>JAG1</i> Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot |
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| The identification of <i>MAFB</i> mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability |
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| Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of <i>FBN1</i> causing a recognizable phenotype |
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| Risk and protective factors in the origin of conotruncal defects of heart—a population‐based case–control study |
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| Intellectual disability, unusual facial morphology and hand anomalies in sibs |
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| Boston type craniosynostosis: Report of a second mutation in <i>MSX2</i> |
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| The “old theme” of variability versus transitory phenotypes in thanatophoric dysplasia type 1: Two 19‐week‐old fetuses with (“San Diego” variant) and without ragged metaphyses due to the same <i>FGFR3 |
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| Hereditary deletion of the entire <i>FAM20C</i> gene in a patient with Raine syndrome |
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| Non‐immune hydrops fetalis: A prospective study of 53 cases |
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| Evidence for replicative mechanism in a <i>CHD7</i> rearrangement in a patient with CHARGE syndrome |
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| Achondroplasia with multiple‐suture craniosynostosis: A report of a new case of this rare association |
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| De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of <i>EFNB2</i> in patients with anorectal malformation |
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| Neuromotor synapses in Escobar syndrome |
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| Molecular basis of the clinical features of Al‐Awadi‐Raas‐Rothschild (limb/pelvis/uterus‐hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome |
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| Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements |
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| De novo 15q13.3 microdeletion with cryptogenic west syndrome |
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| Second family with the boston‐type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum |
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| De novo complex X chromosome rearrangement unmasking maternally inherited <i>CSF2RA</i> deletion in a girl with pulmonary alveolar proteinosis |
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| A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with <i>YARS2</i> mutations |
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| Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China |
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| Learning and memory in children with Noonan syndrome |
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| Interstitial 12p13.1 deletion involving <i>GRIN2B</i> in three patients with intellectual disability |
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| Prevalence of beckwith–wiedemann syndrome in North West of Italy |
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| <i>COL2A1</i> gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome |
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| Collagenopathy with a phenotype resembling silver–russell syndrome phenotype |
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| DronamrajuK, FrancomanoCA. (eds). 2012. Victor McKusick and the history of medical genetics. New York, Springer Science and Business Media. ISBN 978‐1‐4614‐1676‐0 (1677‐7 ebook); Library of Congress C |
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| Small intragenic deletion in <i>FOXP2</i> associated with childhood apraxia of speech and dysarthria |
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| Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3‐Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh‐Like Syndrome) caused by novel m |
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| Three patients resembling Teebi–Shaltout syndrome |
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| Co‐occurrence of 22q11 deletion syndrome and hdr syndrome |
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| Growth hormone, gender and face shape in prader–willi syndrome |
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| Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism |
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| Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory |
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| Screening and familial characterization of copy‐number variations in <i>NR5A1</i> in 46,XY disorders of sex development and premature ovarian failure |
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| Two somali half‐siblings with <i>CHST3</i>‐related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability |
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✓ |
✓ |
Somali |
| Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis |
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| The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing <i>NSD1</i>: Is it really a reversed sotos syndrome? |
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| Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome |
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| Adolescents and young adults with down syndrome presenting to a medical clinic with depression: Co‐morbid obstructive sleep apnea |
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| <i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome |
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| ACMG SUGGESTS BROADER APPLICATION FOR NONINVASIVE PRENATAL SCREENING TESTS: NIPS tests shouldn't be limited to high‐risk pregnancies |
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| NEW APPROACH TO STUDY OF DEVELOPMENTAL DISORDERS PROPOSED |
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| Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome |
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| Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders |
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| Severe hypospadias and its association with maternal‐placental factors |
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| The society of craniofacial genetics and developmental biology 35th annual meeting |
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| Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence |
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| Long‐term follow‐up of four patients with langer–giedion syndrome: Clinical course and complications |
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| Further characterization of atypical features in auriculocondylar syndrome caused by recessive <i>PLCB4</i> mutations |
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| IN THIS ISSUE |
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| Table of Contents, Volume 161A, Number 7, July 2013 |
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| Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis |
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| Multidisciplinary treatment of disability in ehlers–danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive‐behavioral therapy on 12 wome |
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| American Journal of Medical Genetics Part A: Volume 161A, Number 7, July 2013 |
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| PECONPI: A novel software for uncovering pathogenic copy number variations in non‐syndromic sensorineural hearing loss and other genetically heterogeneous disorders |
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| A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism |
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| Pure duplication of 19p13.3 |
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| Late‐onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of th |
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| Missense mutations in <i>FBN1</i> exons 41 and 42 cause Weill–Marchesani syndrome with thoracic aortic disease and Marfan syndrome |
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| Mutation of <i>HES7</i> in a large extended family with spondylocostal dysostosis and dextrocardia with <i>situs inversus</i> |
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| Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies |
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| Three phone calls: A carrier's journey into motherhood |
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| Duplication of the Xq27.3–q28 region, including the <i>FMR1</i> gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome |
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| Narrative medicine: A call to pens |
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| Hospital Deliveries |
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| Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader–Willi syndrome: An observationa |
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| Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype |
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✓ |
✓ |
Italian |
| Pre‐ and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome |
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✓ |
✓ |
Hispanic; Moroccan |
| Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3‐generation family |
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| Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration |
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| Endocrine abnormalities in townes–brocks syndrome |
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| A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden–walker syndrome |
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| Oculo‐auriculo‐vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement |
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| Table of Contents, Volume 161A, Number 8, August 2013 |
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| Gene therapy shows potential as Usher syndrome treatment |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 161A, Number 8, August 2013 |
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| Federal committee supports adding Pompe disease to screening panel |
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| Supreme court strikes down certain gene patents |
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| A case of Toriello–Carey syndrome with severe congenital tracheal stenosis |
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✓ |
✓ |
Japanese |
| Homozygosity for the V37I <i>GJB</i><i>2</i> mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian |
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✓ |
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✓ |
✓ |
Asian populations; East Asian populations; Chinese ancestry; Japanese descent; Vietnamese ancestry; |
| Novel no‐stop <i>FLNA</i> mutation causes multi‐organ involvement in males |
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| Non‐lethal non‐mosaic male with conradi–hunermann syndrome caused by a novel <i>EBP</i> c.356T>G mutation |
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| Non‐trisomic homeobox gene expression during craniofacial development in the Ts65Dn mouse model of Down syndrome |
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| A compound heterozygote <i>SLC26A2</i> mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new in |
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✓ |
✓ |
Finnish founder mutation; Brazilian sisters |
| Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome? |
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| Risk terminology in biobanking and genetic research: What's in a name? |
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| Evaluating the frequency and characteristics of seizures in 142 Japanese patients with prader–willi syndrome |
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| Camurati–engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the <i>TGFB1</i> gene |
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| High MMP‐9 activity levels in fragile X syndrome are lowered by minocycline |
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| Another patient with 12q13 microduplication |
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| A unique case of de novo 5q33.3–q34 triplication with uniparental isodisomy of 5q34–qter |
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| Increased fracture risk and low bone mineral density in patients with loeys–dietz syndrome |
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| Microdeletion 5q14.3 and anomalies of brain development |
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| Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African‐American brothers |
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✓ |
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African‐American |
| Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in <i>LBR</i> |
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| 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism |
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| Microdeletions of 5.5 Mb (4q13.2–q13.3) and 4.1 Mb (7p15.3–p21.1) associated with a saethre–chotzen‐like phenotype, severe intellectual disability, and autism |
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| A novel <i>ALDH5A1</i> mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family |
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| Insertional translocation leading to a 4q13 duplication including the<i>EPHA5</i>gene in two siblings with attention‐deficit hyperactivity disorder |
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| A mutation in <i>TGFB</i><i>3</i> associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome |
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| A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum |
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| Homozygous deletion in <i>TUSC3</i> causing syndromic intellectual disability: A new patient |
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✓ |
✓ |
Sicilian |
| Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome |
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| A recurrent mutation in the 5′‐UTR of <i>IFITM5</i> causes osteogenesis imperfecta type V |
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| The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes |
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| Medulloblastoma in a patient with the <i>PTPN11</i> p.Thr468Met mutation |
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| Confirmation of <i>GRHL2</i> as the gene for the DFNA28 locus |
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| Dr. Peter Emil Becker and the Third Reich |
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| Empirical research on the ethics of genomic research |
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| Severe infantile leigh syndrome associated with a rare mitochondrial <i>ND6</i> mutation, m.14487T>C |
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| Orthopedic manifestations and implications for individuals with Costello syndrome |
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| Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy |
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| Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients |
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| Hemifacial microsomia in cat‐eye syndrome: 22q11.1–q11.21 as candidate loci for facial symmetry |
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| Richieri‐costa and Pereira syndrome: Severe phenotype |
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| GAPO syndrome associated with vestibular dysfunction and hearing loss |
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| Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature |
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| Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria |
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| Book reviewISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). ShafferLG, McGowan‐JordanJ, SchmidM, editors. Published in collaboration with Cytogenetic and Genome Research b |
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| Duplication of <i>AKT</i><i>3</i> as a cause of macrocephaly in duplication 1q43q44 |
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| Altered lipid metabolism in gastroschisis: A novel hypothesis |
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| Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication |
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| Further delineation of the clinical spectrum in <i>RNU</i><i>4</i><i>ATAC</i> related microcephalic osteodysplastic primordial dwarfism type I |
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✓ |
✓ |
unusually fair complexion of hair and skin |
| Myoclonic epilepsy in a child with 17q22–q23.1 deletion |
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| Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin‐binding fragment of FBN1 |
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| The “megalencephaly‐capillary malformation” (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome |
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| Customized high resolution CGH‐array for clinical diagnosis reveals additional genomic imbalances in previous well‐defined pathological samples |
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| Body mass index (BMI): The case for condition‐specific cut‐offs for overweight and obesity in skeletal dysplasias |
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| An allelic series of <i>Trp63</i> mutations defines TAp63 as a modifier of EEC syndrome |
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| Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group |
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| Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type |
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| Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the <i>INVS</i>/<i>NPHP2</i> gene |
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| Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt‐oram and ulnar‐mammary syndromes |
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| The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case–control study |
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| Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects |
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| Detection of rarely identified multiple mutations in <i>MECP2</i> gene do not contribute to enhanced severity in rett syndrome |
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| Cardiac fat‐containing lesions are common in tuberous sclerosis complex |
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| Delineation of a new chromosome 20q11.2 duplication syndrome including the <i>ASXL1</i> gene |
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| Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability |
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| Chimerism in monochorionic dizygotic twins: Case study and review |
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| Two is better than one: A case of homozygous myotonic dystrophy type 1 |
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| Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis |
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| Views and preferences for the implementation of non‐invasive prenatal diagnosis for single gene disorders from health professionals in the united kingdom |
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| First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities |
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| Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome |
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| Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures |
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| Growth hormone receptor (<i>GHR</i>) gene polymorphism and prader–willi syndrome |
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✓ |
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| Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34‐36.1: Review of distal 7q deletions |
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| Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the <i>PORCN</i> gene (c.1250T>C:p.F417S) and unusual spinal anomaly |
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| The value of the clinical geneticist caring for adults with congenital heart disease: Diagnostic yield and patients' perspective |
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| Response to “germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures” by mariani et al. |
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| Two cases of hepatic adenomas in patients with wolf‐hirschhorn syndrome: A new rare complication? |
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| “If it helps …” the use of microarray technology in prenatal testing: Patient and partners reflections |
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| Whole‐exome sequencing identified a homozygous <i>FNBP4</i> mutation in a family with a condition similar to microphthalmia with limb anomalies |
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| Circadian abnormalities in mouse models of smith–magenis syndrome: Evidence for involvement of <i>RAI1</i> |
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| Location of MECP2 mutation could affect Rett syndrome progression and severity |
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| Clinical manifestations of Xq28 functional disomy involving <i>MECP2</i> in one female and two male patients |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 161A, Number 6, June 2013 |
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| Deletion 16p13.11 uncovers <i>NDE1</i> mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption |
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| Guidelines support the return of incidental genomic findings |
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| Table of Contents, Volume 161A, Number 6, June 2013 |
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| A novel <i>RASA1</i> mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancy |
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| Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS‐like phenotype |
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| Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy |
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| Severe obstructive sleep apnea in loeys–dietz syndrome successfully treated using continuous positive airway pressure |
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| Gorlin–chaudhry–moss syndrome revisited: Expanding the phenotype |
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| Descriptive epidemiology of idiopathic clubfoot |
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| Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36 |
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| Renal‐hepatic‐pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies and <i>NPHP3</i> mutation |
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| Daytime somnolence in an adult with smith–magenis syndrome |
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| 6p25 microdeletion: White matter abnormalities in an adult patient |
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| XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome |
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| Mortality of congenital osteochondrodysplasias: A nationwide registry‐based study |
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| 6p21.3 microdeletion involving the <i>SYNGAP1</i> gene in a patient with intellectual disability, seizures, and severe speech impairment |
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| De novo trisomy 12p in twin girls with different levels of mosaicism |
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| Progressive extreme heterotopic calcification |
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| Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: Time to explore the genetics |
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| Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging |
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| Familial trisomy 6p in mother and daughter |
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| <i>LMNA</i>‐associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset |
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| Delineation of a region responsible for panhypopituitarism in 20p11.2 |
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| Expanding the phenotype associated with missense mutations of the <i>ARX</i> gene |
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| De novo intragenic deletion of the <i>autism susceptibility candidate 2</i> (<i>AUTS2</i>) gene in a patient with developmental delay: A case report and literature review |
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| Elements of morphology: Standard terminology for the external genitalia |
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| Birth seasonality in Prader‐Willi syndrome resulting from chromosome 15 microdeletion |
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| Xq25 duplications encompassing <scp><i>GRIA</i></scp><i>3</i> and <scp><i>STAG</i></scp><i>2</i> genes in two families convey recognizable X‐linked intellectual disability with distinctive facial appe |
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| Sleep disturbance as part of the neurofibromatosis type 1 phenotype in adults |
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| Diagnostic screening identifies a wide range of mutations involving the <i>SHOX</i> gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect |
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| Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome |
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| Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis? |
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| 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf–Hirschhorn syndrome |
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| Nasopalpebral Lipoma‐Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case |
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| Severe Cenani–Lenz syndrome caused by loss of LRP4 function |
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| Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy |
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| De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability |
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| Clinical correlations of mutations affecting six components of the <scp>SWI</scp>/<scp>SNF</scp> complex: Detailed description of 21 patients and a review of the literature |
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| Paternal inheritance of classic X‐linked bilateral periventricular nodular heterotopia |
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| Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication |
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| A de novo <scp><i>GLI</i></scp><i>3</i> mutation in a patient with acrocallosal syndrome |
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| Development of the human heart |
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| Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature |
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| A novel inverted 17p13.3 microduplication disrupting <i>PAFAH1B1</i> (<i>LIS1</i>) in a girl with syndromic lissencephaly |
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| A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype |
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| Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder |
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| Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature |
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| A newly recognized autosomal recessive syndrome affecting neurologic function and vision |
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| Discordant chromosome placental mosaicism in a dichorionic twin pregnancy |
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| Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the <i>ARSB</i> gene |
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| Utilizing high‐fidelity crucial conversation simulation in genetic counseling training |
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| A new single gene deletion on 2q34: <i>ERBB4</i> is associated with intellectual disability |
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| Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype |
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| Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia |
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| Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil |
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| Nomenclature in macrocephaly–capillary malformation Syndrome |
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| Recurrent Pericarditis in Myhre Syndrome |
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| Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations |
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| REPORT SPOTLIGHTS POTENTIAL FOR PRIVACY BREACHES |
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| IN THIS ISSUE |
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| American Journal of Medical Genetics Part A: Volume 161A, Number 5, May 2013 |
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| Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems |
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| Response to Cobben et al. “Array CGH on unstimulated blood does not detect all cases of Pallister‐Killian Syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice” |
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| Palmo‐Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: Further evidence for an X‐linked inheritance |
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| 12q24.33 deletion: Report of a patient with intellectual disability and review of the literature |
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| Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing <i>SOX2</i> |
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| Partial tetrasomy 14 associated with multiple malformations |
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| Constitutional telomeric association (Y;7) in a patient with a female phenotype |
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| PROTEINS ASSOCIATED WITH AUTISM SHOWN TO SUPPRESS PROPER SYNAPSE FORMATION: Genetic mutation leads to imbalance of inhibitory and excitatory synapses |
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| A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in <i>RAF1</i> |
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| Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region |
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| Additional evidence to support the role of the 20q13.33 region in susceptibility to autism |
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| X‐linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature |
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| Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome |
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| <i>ACTA2</i> mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome |
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| Expanding the phenotype of cardiovascular malformations in Adams–Oliver syndrome |
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| Array CGH on unstimulated blood does not detect all cases of Pallister–Killian syndrome: <i>Buccal smear analysis</i> should remain the diagnostic procedure of first choice |
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| Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the <i>SLC26A2</i> gene |
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| Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas–Papas Syndrome |
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| Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing |
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| Clinical Comparison of Overlapping Deletions of 19p13.3 |
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| Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications |
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| Development of the human aortic arch system captured in an interactive three‐dimensional reference model |
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| Novel mutation in <i>TP</i><i>63</i> associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia |
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| Case of genochondromatosis type I in an 8‐year‐old boy |
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| Table of Contents, Volume 161A, Number 5, May 2013 |
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| Persistent Hypertension Despite Successful Dilation of a Stenotic Renal Artery in a Boy With Neurofibromatosis Type 1 |
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| Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications |
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| Thoracic Aortic Aneurysm in Infancy in Aneurysms–<scp>O</scp>steoarthritis Syndrome Due to a Novel <scp><i>SMAD</i></scp><i>3</i> Mutation: Further Delineation of the Phenotype |
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| The Role of Social Networking Sites in Medical Genetics Research |
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| Advanced Maternal Age in Polyploidy With Concurrent Aneuploidy |
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| Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas-Papas Syndrome |
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| Oculo-Auriculo-Vertebral Spectrum, Cat Eye, and Distal 22q11 Microdeletion Syndromes: A Unique Double Rearrangement |
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| Intellectual Disability and Hemizygous <scp><i>GPD</i></scp><i>2</i> Mutation |
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| Preferential Associated Anomalies in 818 Cases of Microtia in South America |
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| Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing |
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| Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation in <i>FBLN4</i> |
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| Prenatal Presentation and Diagnostic Evaluation of Suspected Smith–<scp>L</scp>emli–<scp>O</scp>pitz (<scp>RSH</scp>) Syndrome |
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| The Fibroblast Growth Factor Receptor 2 p.<scp>A</scp>la172<scp>P</scp>he Mutation in Pfeiffer Syndrome—<scp>H</scp>istory Repeating Itself |
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✓ |
✓ |
British family; German family |
| Familial Microdeletion of 17q24.3 Upstream of <scp><i>SOX</i></scp><i>9</i> Is Associated With Isolated Pierre Robin Sequence Due to Position Effect |
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| Recurring and Generalized Visceroptosis in Ehlers–<scp>D</scp>anlos Syndrome Hypermobility Type |
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| Polymorphisms at Regions 1p22.1 (rs560426) and 8q24 (rs1530300) Are Risk Markers for Nonsyndromic Cleft Lip and/or Palate in the Brazilian Population |
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| Analysis of De Novo <scp><i>HOXA</i></scp><i>13</i> Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation |
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| Mosaic Deletion of the <scp><i>NF</i></scp><i>1</i> Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1 |
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| Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low‐<scp>L</scp>evel Uniparental Disomy |
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| What Is a Complex Chromosome Rearrangement? |
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| Corpus Callosum Shape Is Altered in Individuals With Nonsyndromic Cleft Lip and Palate |
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| Fraser Syndrome: Epidemiological Study in a European Population |
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✓ |
✓ |
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European population; Europe; western part of Europe; rest of Europe; European Surveillance of Congen |
| Fractures in Children With Neurofibromatosis Type 1 From Two <scp>NF</scp> Clinics |
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| Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature |
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| Partial Trisomy 18q and Epileptic Spasms Induced by Eating Associated With Bilateral Opercular Dysplasia |
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| Improvement of <scp>CNS</scp> Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type <scp>II</scp> Mice |
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| Intestinal Ganglioneuromatosis: Unusual Presentation of Cowden Syndrome Resulting in Delayed Diagnosis |
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| Aspect of faulty brain development in <i>22q11</i> deletion syndrome shown |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 161A, Number 4, April 2013 |
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| Table of Contents, Volume 161A, Number 4, April 2013 |
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| Recurrent Pericarditis in Myhre Syndrome |
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| Clinical Comparison of Overlapping Deletions of 19p13.3 |
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| Another Rare Prenatal Case of Post‐<scp>Z</scp>ygotic Mosaic Trisomy 17 |
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| Genetic defects behind fragile X‐related disorders more common |
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| Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization |
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| A patient with de novo 0.45 Mb deletion of 2p16.1: The role of <i>BCL11A</i>, <i>PAPOLG</i>, <i>REL</i>, and <i>FLJ16341</i> in the 2p15‐p16.1 microdeletion syndrome |
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| GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer |
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✓ |
✓ |
Turkish |
| Partial deletion of <i>ANKRD11</i> results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome |
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✓ |
✓ |
African American |
| Epilepsy in children with trisomy 18 |
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| Artery tortuosity syndrome exhibiting early‐onset emphysema with novel compound heterozygous <i>SLC2A10</i> mutations |
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|
mostly reported from Europe and Middle Eastern countries, but not from Asia |
| De novo 13q31.1–q32.1 interstitial deletion encompassing the <i>miR‐17‐92</i> cluster in a patient with Feingold syndrome‐2 |
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| The <i>MEF2C</i> gene‐microdeletion 5q14.3 dilemma and three axioms for molecular syndromology |
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| Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions |
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| First Evidence of Vertical Paternal Transmission of Osteopatia Striata With Cranial Sclerosis |
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| Keratoconus in Costello Syndrome |
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| Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients |
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| Reduces Bone Mass as in Human Apert Syndrome |
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| Prevalence of diabetes and pre‐diabetes in a cohort of Italian young adults with Williams syndrome |
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✓ |
✓ |
Italian |
| Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype |
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| New therapies for treating Down syndrome require quality of life measurement |
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| A cryptic microdeletion including <i>MBD5</i> occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity |
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| Haploinsufficiency of <i>ZNF238</i> is associated with corpus callosum abnormalities in 1q44 deletions |
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| Clinical and cytogenetic characterization of a boy with a de novo pure partial trisomy 16q24.1q24.3 and complex chromosome rearrangement |
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| A highly specific coding system for structural chromosomal alterations |
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| A second report of p.Pro986Leu variant in <i>COL2A1</i>‐phenotypic overlap with SEDC and other forms of type II collagenopathies |
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| Dermatosparaxis (<scp>E</scp>hlers–<scp>D</scp>anlos Type <scp>VIIC</scp>): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery |
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| 6p.24 microdeletion involving <i>TFAP2A</i> without classic features of branchio‐oculo‐facial syndrome |
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| Postnatal brain and skull growth in an Apert syndrome mouse model |
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| Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy |
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✓ |
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| An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma |
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| Antisense may make sense of 1q44 deletions, seizures, and <i>HNRNPU</i> |
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| Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting <scp><i>NFIX</i></scp> and <i>CACNA1A</i> |
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| Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan |
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✓ |
✓ |
Japanese patients; Israel |
| Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients |
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| Xq22.3–q23 deletion including <i>ACSL4</i> in a patient with intellectual disability |
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| <scp><i>GPSM</i></scp><i>2</i> and Chudley–<scp>M</scp>c<scp>C</scp>ullough Syndrome: A Dutch Founder Variant Brought to North America |
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originated in Europe |
| Case–<scp>C</scp>ontrol Study of Maternal Residential Atrazine Exposure and Male Genital Malformations |
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| A De Novo Deletion at 16q24.3 Involving <scp><i>ANKRD</i></scp><i>11</i> in a Japanese Patient With <scp>KBG</scp> Syndrome |
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✓ |
✓ |
Japanese |
| Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without <scp><i>SOX</i></scp><i>3</i> Expression |
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| Interstitial Duplication of 2q32.1–q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior |
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| Simpson–<scp>G</scp>olabi–<scp>B</scp>ehmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2–4 Duplication of the <scp><i>GPC</i></scp><i>3</i> Gene |
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| Trilateral Retinoblastoma in a Patient With Peutz–<scp>J</scp>eghers Syndrome |
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| Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in<scp><i>PAX</i></scp><i>7</i>and<scp><i>VAX</i></scp><i>1</i>in the Etiology of Nonsynd |
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✓ |
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1,326 individuals of European and Asian ancestry |
| Book Review Genomics and Health in the Developing World. Edited by Prof. Dhavendra Kumar. ISBN13: 9780195374759, ISBN10: 0195374754. |
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| Evaluation of Tibial Osteopathy Occurrence in Neurofibromatosis Type 1 Italian Patients |
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| Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/<scp>M</scp>icrophthalmia–<scp>E</scp>sophageal Atresia Syndrome Negative for <scp><i>SOX</i></scp><i>2</i> Mutation |
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| A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes <i>TBR1</i>, <i>TANK</i>, and <i>PSMD14</i> |
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| Inversion upstream of <i>FOXF1</i> in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins |
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| Book review: The Autisms (4/E). Coleman Mary, Gillberg Christopher, Oxford University Press: Oxford, UK, 2012 |
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| Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy |
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| FOP in China and Japan: An overview from domestic literatures |
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| Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: A case control study of genetic factors |
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✓ |
✓ |
race |
| Recurrent agnathia–otocephaly caused by DNA replication slippage in <i>PRRX1</i> |
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✓ |
✓ |
Indonesian |
| Marfan syndrome caused by a novel <i>FBN1</i> mutation with associated pigmentary glaucoma |
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| Book review: Autism Spectrum Disorders. Amara David G, Dawson Geraldine, Geschwind Daniel H (Eds.). Oxford University Press: Oxford, UK, 2011 |
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| Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis |
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| Barriers for integrating personalized medicine into clinical practice: A qualitative analysis |
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| Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles |
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| The Salernitan school of medicine: Women, men, and children. A syndromological review of the oldest medical school in the western world |
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| Co‐occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion |
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| Contamination of Amniotic Fluid With Maternal Balanced t(11;22) Translocation Cells |
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| GenTAC registry report: Gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection |
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| Progressive disorders and associated complications |
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| The phenotypic spectrum of <i>ZIC3</i> mutations includes isolated d‐transposition of the great arteries and double outlet right ventricle |
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| Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge |
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| High‐level somatic mosaicism of <i>AKT1</i> c.49G>A mutation in skin scrapings from epidermal nevi enables non‐invasive molecular diagnosis in patients with Proteus syndrome |
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| Prenatal peptide treatment appears promising in Down syndrome mouse model |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 161A, Number 3, March 2013 |
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| Changes in mortality and causes of death in the Swedish Down syndrome population |
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| Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency |
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| De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome |
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| ACOG approves new trisomy screen for high‐risk pregnancies |
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| Table of Contents, Volume 161A, Number 3, March 2013 |
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| Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria? |
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| Novel <i>FREM1</i> mutations expand the phenotypic spectrum associated with manitoba‐oculo‐tricho‐anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome |
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| Neuroblastoma in a pediatric patient with a microduplication of 2p involving the <i>MYCN</i> locus |
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| Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same <i>FLNB</i> residue |
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| Five novel mutations of <i>GALNS</i> in Korean patients with mucopolysaccharidosis IVA |
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Korean |
| Validation of a new multiple osteochondromas classification through Switching Neural Networks |
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| Hospitalizations among people with Down syndrome: A nationwide population‐based study in Denmark |
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| 8p23.1 duplication detected by array‐CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly |
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| Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease |
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| Perinatal and early infantile symptoms in congenital disorders of glycosylation |
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| Vertical transmission of a frontonasal phenotype caused by a novel <i>ALX4</i> mutation |
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| Clinical consequences in truncating mutations in exon 34 of <i>NOTCH2</i>: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome |
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| Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams–Beuren syndrome |
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| Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism |
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| Severe osteopathia striata with cranial sclerosis in a female case with whole <i>WTX</i> gene deletion |
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| De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray‐based comparative genomic hybridization in a child with partial cortical dysplas |
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| Spectrum of mutations that cause distal arthrogryposis types 1 and 2B |
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| Two extraordinarily severe cases of Treacher Collins syndrome |
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| Successful PGD cycles for mosaic Robertsonian translocation carriers provide insights into the mechanism of formation of the derivative chromosomes |
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| Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome |
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| Mutations in <i>WNT10A</i> are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia |
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| Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate |
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| Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria |
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| Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants |
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| Hearing from parents: The impact of receiving the diagnosis of Williams syndrome in their child |
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| Genetics professionals' perspectives on reporting incidental findings from clinical genome‐wide sequencing |
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| Anterolateral congenital diaphragmatic hernia with omphalocele: A case report and literature review |
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| A cost savings approach to <i>SPRED1</i> mutational analysis in individuals at risk for neurofibromatosis type 1 |
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| Contributions of a specialty clinic for children and adolescents with Down syndrome |
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| Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project |
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| Letter to the editor: Hidden pituitary gland: Implications for assessment |
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| Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR‐related craniosynostoses, and consideration of mechanism |
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| 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients |
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| Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age |
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| A novel mosaic <i>NSD1</i> intragenic deletion in a patient with an atypical phenotype |
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| Striking intrafamilial phenotypic variability in Aicardi–Goutières syndrome associated with the recurrent Asian founder mutation in <i>RNASEH2C</i> |
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Asian founder mutation |
| Complex II deficiency—A case report and review of the literature |
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| Height correlations between parents and offspring in achondroplasia population |
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| Singleton–Merten syndrome: An autosomal dominant disorder with variable expression |
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| Characteristics and associated anomalies in radial ray deficiencies in Finland—A population‐based study |
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| Jacobsen and Beckwith–Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy |
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| Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences |
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| Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis |
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| A boy with partial trisomy of chromosome 3q24–q28 from paternal balanced insertion and multiple congenital anomalies |
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| Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype |
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| A new <i>NF1</i> variant in a patient with atypical manifestations |
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| Germline mutations in <i>FGF</i> receptors and medulloblastomas |
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| Neurofibromatosis type 2 in the elderly population: Clinical and molecular features |
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| In this issue |
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| Corrigendum to: “Myopathy in a 20‐Year‐Old Female Patient With D4ST‐1 Deficient Ehlers‐Danlos Syndrome Due to a Homozygous CHST14 Mutation, Am J Med Genet A. 2012 Apr; 158A(4):850–855” |
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| Might diet play a role in autism? |
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| Phenotype of Williams–Beuren syndrome in Brazilian patients: Comments on the article by Patil et al. [2012] and discussion of variable phenotypes in distinct populations |
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| American Journal of Medical Genetics Part A: Volume 161A, Number 2, February 2013 |
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| Experimental therapy for neurofibromatosis I shows promise |
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| Table of Contents, Volume 161A, Number 2, February 2013 |
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| Response to the letter “How to describe the clinical spectrum in Pompe disease?” |
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| Pure de novo partial trisomy 6p in a girl with craniosynostosis |
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| Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes |
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| Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome |
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| Exercise capacity impairment in individuals with neurofibromatosis type 1 |
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| A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio‐oculo‐facial syndrome |
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| Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders |
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non‐Dutch ancestry |
| Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature |
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| Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in <i>ABCC9</i> |
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| A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4–p11.21 |
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Mexican |
| Maternal attitudes to newborn screening for fragile X syndrome |
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| How to describe the clinical spectrum in Pompe disease? |
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| <i>NR2F1</i> haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay |
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| Four new patients with Gomez–Lopez‐Hernandez syndrome and proposed diagnostic criteria |
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