| Menkes disease in affected females: The clinical disease spectrum |
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| <i>PIK3CA</i>‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation |
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| NIH policy supports broader sharing of genomic data, strengthens informed‐consent rules |
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| American Journal of Medical Genetics Part A: Volume 167A, Number 1, January 2015 |
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| Geneticists offer recommendations for sharing unexpected consanguinity findings with parents |
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| Obesity possible sign of Angelman syndrome in infants, toddlers |
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| Table of Contents, Volume 167A, Number 1, January 2015 |
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| Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation |
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| Microdeletion of 19p13.3 in a girl with Peutz–Jeghers syndrome, intellectual disability, hypotonia, and distinctive features |
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| A new patient with LACHT syndrome (Mardini–Nyhan association) |
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| Porencephaly in a fetus and HANAC in her father: Variable expression of <i>COL4A1</i> mutation |
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| A 12q24.31 interstitial deletion in an adult male with MODY3: Neuropsychiatric and neuropsychological characteristics |
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| Unusual isochromosome 5p marker chromosome |
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| Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature |
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| Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis |
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| A population‐based profile of 160 Australians with Prader‐Willi syndrome: Trends in diagnosis, birth prevalence and birth characteristics |
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| Cholesterol levels in Fragile X syndrome |
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| Phenotypes of <i>AKT3</i> deletion: A case report and literature review |
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| A new syndrome of intellectual disability with dysmorphism due to <i>TBL1XR1</i> deletion |
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| Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four‐generation family |
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| Cognitive‐behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size |
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| Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome |
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| Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld‐anomaly in a child with <i>PTPN11</i> mutation |
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| A novel mutation in <i>FGFR2</i> |
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| A novel heterozygous <i>MAP2K1</i> mutation in a patient with Noonan syndrome with multiple lentigines |
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✓ |
✓ |
Japanese |
| Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms |
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| Tracheobronchial anomalies in a patient with Schimke immuno‐osseous dysplasia (SIOD) |
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| Aortopathy in the 7q11.23 microduplication syndrome |
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| Acro‐spondylo‐pubic dysostosis associated with cataracts, microcephaly, and normal intelligence |
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| Clinical features associated with copy number variations of the 14q32 imprinted gene cluster |
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| Prenatal genetic counseling in Klinefelter syndrome: Comments on the article by Lalatta et al. [2013] and a proposal of a new approach |
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| Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements |
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| Medical genetics by G. Bradley Schaefer and James N. Thompson, Jr. (Jan 13, 2014) ISBN: 0071664386/9780071664387 |
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| Co‐segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B |
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| Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene <i>WDPCP</i> in a girl with polysyndactyly, coarctation of the |
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| Angelman syndrome in adulthood |
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| Aspects of speech‐language abilities are influenced by <i>MECP2</i> mutation type in girls with Rett syndrome |
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| Mosaicism for trisomy 21: A review |
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| Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects |
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| The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature |
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| Table of Contents, Volume 164A, Number 12, December 2014 |
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| Noninvasive prenatal testing strategy detects maple syrup urine disease in a fetus |
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| Immune mediated disorders in women with a fragile X expansion and FXTAS |
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| American Journal of Medical Genetics Part A: Volume 164A, Number 12, December 2014 |
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| In this issue |
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| Higher prevalence of immune deficiency syndrome found in infants |
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| Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome |
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| Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues |
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| Comparative analysis of autistic traits and behavioral disorders in Prader–Willi syndrome and Asperger disorder |
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| Myocardial fat overgrowth in Proteus syndrome |
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| Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: A case report |
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| Hydrops, fetal pleural effusions and chylothorax in three patients with <i>CBL</i> mutations |
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| An anadysplasia‐like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (<i>LBR</i>) gene mutations: Further definition of the phenotypic heterogeneity of <i>LBR</i>‐ |
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| Is Tel Hashomer camptodactyly a distinct clinical entity? |
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| Deletions of 9q21.3 including <i>NTRK2</i> are associated with severe phenotype |
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| Whole exome sequencing identifies a <i>POLRID</i> mutation segregating in a father and two daughters with findings of Klippel–Feil and Treacher Collins syndromes |
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| Hyperghrelinemia in Prader‐Willi syndrome begins in early infancy long before the onset of hyperphagia |
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| 4q12–4q21.21 deletion genotype–phenotype correlation and the absence of piebaldism in presence of <i>KIT</i> haploinsufficiency |
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| International guidelines for the management and treatment of Morquio A syndrome |
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| Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome |
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| Complex <i>de novo</i> chromosomal rearrangement at 15q11–q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the lite |
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| Disease‐specific growth charts for Korean infants with Prader–Willi syndrome |
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✓ |
✓ |
Korean |
| Natural history of fetal trisomy 13 after prenatal diagnosis |
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| Association between <i>NOGGIN</i> and <i>SPRY2</i> polymorphisms and nonsyndromic cleft lip with or without cleft palate |
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| Neuroblastoma in a 17‐week fetus: A stimulus for investigation of tumors in a series of 2786 stillbirth and late miscarriages |
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| Trigeminal nerve agenesis with absence of foramina rotunda in Gómez–López–Hernández syndrome |
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✓ |
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| Getting the heart into shape by the influence of cell death machinery |
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| Familial very long chain acyl‐CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis |
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| Prader–Willi syndrome can be diagnosed prenatally |
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| Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation? |
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| Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers‐Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees |
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✓ |
✓ |
Italian |
| Ring 18 molecular assessment and clinical consequences |
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| Twenty‐one years to the right diagnosis – clinical overlap of Simpson–Golabi–Behmel and Beckwith–Wiedemann syndrome |
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| Transposition of the great arteries in a neonate with Klinefelter syndrome—An incidental finding or a true association |
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| Common genetic variants linked with large percentage of autism risk |
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| Somatic mosaicism in parents may cause single‐gene disorders in children |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 164A, Number 11, November 2014 |
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| Table of Contents, Volume 164A, Number 11, November 2014 |
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| First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of <i>EPG5</i> and review of the literature |
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| Phenotypic variability associated with the invariant <i>SHOC2</i> c.4A>G (p.Ser2Gly) missense mutation |
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| Nine children over the age of one year with full trisomy 13: A case series describing medical conditions |
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| Echogenic |
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| Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq |
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| UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassing <i>UBE2A</i> gene |
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| Molecular classes in 209 patients with Prader–Willi or Angelman syndromes: Lessons for genetic counseling |
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| The extraordinary career of Professor Dr. Simon van Creveld |
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✓ |
✓ |
Jewish |
| Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving <i>CHD8</i> gene, is associated with autism and macrocephaly |
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| Periventricular nodular heterotopia in Smith‐Magenis syndrome |
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| Severe epilepsy in an adult with partial trisomy 18q |
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| Seizures and EEG features in 74 patients with genetic‐dysmorphic syndromes |
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| Mosaic deletion of <i>EXOC6B</i>: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability |
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| Major congenital anomalies in babies born with Down syndrome: A EUROCAT population‐based registry study |
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| <i>CHD</i>7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects |
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| Effect of lovastatin on behavior in children and adults with fragile X syndrome: An open‐label study |
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| Genetic knowledge and attitudes of parents of children with congenital heart defects |
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| Duodenal atresia in 17q12 microdeletion including <i>HNF1B</i>: A new associated malformation in this syndrome |
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| Co‐occurrence of non‐mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature |
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| A 13‐year‐old boy with a 7q36.1q36.3 deletion with additional findings |
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| Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures |
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| Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome |
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| Update from the 2013 international neurofibromatosis conference |
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| Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions |
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| Possible preventive effect of high doses of folic acid for isolated hypospadias: A national population‐based case–control study |
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| Novel interstitial deletion of 10q24.3–25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys |
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| A complex Xp11.22 deletion in a patient with syndromic autism: Exploration of <i>FAM120C</i> as a positional candidate gene for autism |
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| Cognitive‐motor profile, clinical characteristics and diagnosis of CHARGE syndrome: An Italian experience |
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| 3p25.3 microdeletion of GABA transporters <i>SLC6A1</i> and <i>SLC6A11</i> results in intellectual disability, epilepsy and stereotypic behavior |
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| Partial <i>AFF2</i> microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia |
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| Inverted duplication with deletion: First interstitial case suggesting a novel undescribed mechanism of formation |
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| Genotype‐phenotype relationships in Freeman–Sheldon syndrome |
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| Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving <i>SHANK3</i> gene: A new contiguous gene syndrome |
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| An exploration of the communication patterns and language used between clinical geneticists and parents of children with dysmorphic features |
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| Identification of a novel missense mutation in the <i>WFS1</i> gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all‐frequencies |
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✓ |
✓ |
Chinese |
| Deletion of <i>AFG3L2</i> associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies |
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| Molecular etiology of non‐dominant, non‐syndromic, mild‐to‐moderate childhood hearing impairment in Chinese Hans |
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✓ |
✓ |
Chinese Hans |
| HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders |
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| Intragenic duplication—A novel causative mechanism for SATB2‐associated syndrome |
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| A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf‐Hirschhorn syndrome |
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| Variable expressivity of pfeiffer syndrome in a family with <i>FGFR1</i> p.Pro252Arg mutation |
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| De novo interstitial deletion 2q14.1q22.1: Is there a recognizable phenotype? |
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| Identification of <i>TBX5</i> mutations in a series of 94 patients with Tetralogy of Fallot |
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| Early manifestations of BPAN in a pediatric patient |
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| Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra‐familial phenotypic variability |
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| Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes |
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| A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation |
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| Informed consent for exome sequencing research in families with genetic disease: The emerging issue of incidental findings |
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| Disruption of the <i>ARID1B</i> and <i>ADAMTS6</i> loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay |
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| Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum |
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| ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination |
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| <i>GALNS</i> mutations in Indian patients with mucopolysaccharidosis IVA |
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✓ |
✓ |
Asian Indians, Indian patients, other populations |
| Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome |
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| In this issue |
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| Facial analysis technology aids diagnoses of genetic disorders |
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| Opitz award winners focus on hemihyperplasia, Kabuki syndrome |
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| American Journal of Medical Genetics Part A: Volume 164A, Number 10, October 2014 |
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| Table of Contents, Volume 164A, Number 10, October 2014 |
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| Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one <i>NR5A1</i> mutation |
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| Cognitive profile of school‐age children and teenagers with hypohidrotic ectodermal dysplasia (HED) |
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| Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes |
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| Prenatal findings in carpenter syndrome and a novel mutation in <i>RAB23</i> |
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| Neural tube defects and atypical deletion on 22q11.2 |
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| A novel variant in <i>GABRB2</i> associated with intellectual disability and epilepsy |
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| A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four‐generation family |
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| Severe craniosynostosis with Noonan syndrome phenotype associated with <i>SHOC2</i> mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways |
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| Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome |
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| Homozygosity for a novel deletion downstream of the <i>SHOX</i> gene provides evidence for an additional long range regulatory region with a mild phenotypic effect |
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|
| American Journal of Medical Genetics Part A: Volume 164A, Number 9, September 2014 |
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| Table of Contents, Volume 164A, Number 9, September 2014 |
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| Next‐generation sequence testing expands research into causes of hearing loss |
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| In this issue |
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| Four‐decade‐old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency |
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| Long term follow‐up of four patients with Keutel syndrome |
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| Unusually severe hypophosphatemic rickets caused by a novel and complex re‐arrangement of the <i>PHEX</i> gene |
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| Further evidence of the importance of <i>RIT1</i> in Noonan syndrome |
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✓ |
✓ |
Japanese; Brazilian |
| Newborn bloodspot retention reinstated in minnesota |
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| Congenital microcephaly and chorioretinopathy due to de novo heterozygous <i>KIF11</i> mutations: Five novel mutations and review of the literature |
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| Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay |
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| Central 22q11.2 deletions |
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| Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin‐deficient congenital muscular dystrophy |
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| A chromosomal 5q31.1 gain involving <i>PITX1</i> causes Liebenberg syndrome |
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| Novel <i>MTCYB</i> mutation in a young patient with recurrent stroke‐like episodes and status epilepticus |
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| Ocular pterygium—Digital keloid dysplasia |
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Peruvian male; family from Norway (Norwegian) |
| Diagnostic and clinical characteristics of early‐manifesting females with Duchenne or Becker muscular dystrophy |
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| CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases |
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| <i>NDST1</i> missense mutations in autosomal recessive intellectual disability |
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| Arterial tortuosity in patients with <i>Filamin A</i>‐ associated vascular aneurysms |
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| The first case of a patient with de novo partial distal 16q tetrasomy and a data's review |
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| Fetal phenotype associated with the 22q11 deletion |
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| Update on ectodermal dysplasias clinical classification |
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| Differences in perspective on prognosis and treatment of children with trisomy 18 |
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| Laterality defects in the national birth defects prevention study (1998–2007): Birth prevalence and descriptive epidemiology |
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✓ |
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| Deletion of <i>UBE3A</i> in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2 |
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| A mutation in the Kozak sequence of <i>GATA4</i> hampers translation in a family with atrial septal defects |
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| Positive effects of an angiotensin II type 1 receptor antagonist in Camurati–Engelmann disease: A single case observation |
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| Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians |
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✓ |
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✓ |
✓ |
non-Hispanic White populations; Congolese; Vietnamese; Filipinos; Africans |
| Distal arthrogryposis type 5D with a novel <i>ECEL1</i> gene mutation |
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| A novel dominant <i>COL11A1</i> mutation resulting in a severe skeletal dysplasia |
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| What parents want to know about the storage and use of residual newborn bloodspots |
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| Diffuse angiopathy in Adams‐Oliver syndrome associated with truncating <i>DOCK6</i> mutations |
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| Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD) |
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✓ |
✓ |
Hispanic ancestry |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability |
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| Rare functional variants in genome–wide association identified candidate genes for nonsyndromic clefts in the African population |
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| Paternal germline mosaicism for a <i>GPC3</i> deletion in X‐linked Simpson‐Golabi‐Behmel syndrome |
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| Unusual prenatal presentation of Rubinstein–Taybi syndrome: A case report |
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| Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings |
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| Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34–36 weeks) |
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| Interstitial 10p11.23–p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism |
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| Eight year follow‐up of an epidemic of sirenomelia in Cali, Colombia |
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| Poikiloderma with neutropenia: Genotype‐ethnic origin correlation, expanding phenotype and literature review |
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✓ |
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✓ |
✓ |
Turkish ancestry; ethnic origin |
| Diagnostic whole genome sequencing and split‐read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome |
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| Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation |
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| Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country |
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| NIH calls for stronger statistical evidence to support pathogenicity |
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| Study suggests genetic link between Down syndrome and leukemia |
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| An osteosclerotic form of Robinow syndrome |
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| Whole exome sequencing identifies three novel mutations in <i>ANTXR1</i> in families with GAPO syndrome |
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| Table of Contents, Volume 164A, Number 8, August 2014 |
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| Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic <i>PIK3CA</i> mutation in cultured amniocytes |
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| American Journal of Medical Genetics Part A: Volume 164A, Number 8, August 2014 |
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| In this issue |
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| Distal Xq28 microdeletions: Clarification of the spectrum of contiguous gene deletions involving <i>ABCD1</i>, <i>BCAP31</i>, and <i>SLC6A8</i> with a new case and review of the literature |
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| Radiographic evaluation of stillbirth: What does it contribute? |
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| Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2 |
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| A novel <i>WDR45</i> mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) |
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| Whole <i>ARX</i> gene duplication is compatible with normal intellectual development |
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| The historical Coffin–Lowry syndrome family revisited: Identification of two novel mutations of <i>RPS6KA3</i> in three male patients |
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| Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders |
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| Stuve–Wiedemann syndrome: Is it underrecognized? |
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✓ |
✓ |
Turkish population; Arabic and Eastern Mediterranean countries; Turkey |
| Multicentric carpotarsal osteolysis syndrome is caused by only a few domain‐specific mutations in <i>MAFB</i>, a negative regulator of RANKL‐induced osteoclastogenesis |
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| Are 22q11.2 distal deletions associated with math difficulties? |
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| Atypical Aicardi‐Goutieres syndrome: Is the <i>WRN</i> locus a modifier? |
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| Growth charts for individuals with Rubinstein–Taybi syndrome |
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✓ |
✓ |
different ancestries; population of origin; Dutch growth charts; general Dutch population |
| Fetal akinesia deformation sequence: Expanding the phenotypic spectrum |
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| Delineating the phenotype of 1p36 deletion in adolescents and adults |
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| Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation |
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| A double‐blind randomized controlled trial of oxytocin nasal spray in Prader Willi syndrome |
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| Cono‐spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder |
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✓ |
✓ |
consanguineous Arab family |
| Activating <i>PIK3CA</i> somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity |
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| Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation |
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| Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3–q26.12 microdeletion encompassing <i>EMX2</i> |
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| Copy number variation in bronchopulmonary dysplasia |
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| Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader–Willi/Angelman syndrome critical region |
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| Far from the tree: Parents, children, and the search for identity by Andrew Solomon |
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| Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature |
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| Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel <i>FBLN5</i> mutation |
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| Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications |
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| Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1 |
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| QOL in caregivers of Japanese patients with Prader–Willi syndrome with reference to age and genotype |
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| Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i> |
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| New testing guidelines for hearing loss support next‐generation sequencing |
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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—Am J Med Ge |
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| Mutations in <i>NGLY1</i> gene linked with new genetic disorder |
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| Table of Contents, Volume 164A, Number 7, July 2014 |
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| The Habsburg Jaw—Re‐examined |
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| Contribution of <i>RIT1</i> mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 164A, Number 7, July 2014 |
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| Should sex chromosomes be excluded from use in QF‐PCR in prenatal samples with a molecular referral? |
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| A 2q24.3q31.1 microdeletion found in a patient with Filippi‐like syndrome phenotype: A case report |
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| Truncating mutations in <i>LRP4</i> lead to a prenatal lethal form of Cenani–Lenz syndrome |
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| Skin findings in Williams syndrome |
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| A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data |
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| Congenital abnormalities and hepatoblastoma: A report from the Children's Oncology Group (COG) and the Utah Population Database (UPDB) |
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| Severe manifestations of hand‐foot‐genital syndrome associated with a novel <i>HOXA13</i> mutation |
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| Somatic mosaicism for the p.His1047Arg mutation in <i>PIK3CA</i> in a girl with mesenteric lipomatosis |
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| Association between macroorchidism and intelligence in <i>FMR1</i> premutation carriers |
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| Cytogenomic delineation and clinical follow‐up of two siblings with an 8.5 Mb 6q24.2‐q25.2 deletion inherited from a paternal insertion |
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| Maternal exposure to methotrexate and birth defects: A population‐based study |
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| Donor splice‐site mutation in <i>CUL4B</i> is likely cause of X‐linked intellectual disability |
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| Novel de novo heterozygous <i>FGFR1</i> mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism |
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| Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication |
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| De novo deletion of <i>TBL1XR1</i> in a child with non‐specific developmental delay supports its implication in intellectual disability |
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| A <i>PTPN11</i> allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype |
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| Disability training in the genetic counseling curricula: Bridging the gap between genetic counselors and the disability community |
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| Attitudes of non‐African American focus group participants toward return of results from exome and whole genome sequencing |
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✓ |
✓ |
non‐African American; African American (AA); racially and ethnically diverse |
| Phenotypic similarities and differences in patients with a p.Met112Ile mutation in <i>SOX10</i> |
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| Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: Phenotypic expansion and review of the literature |
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| Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader–Willi syndrome: A comparison between maternal uniparental disomy and deletion cases |
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✓ |
✓ |
Japanese; Asian patients; western countries; ethnoregional differences |
| Respiratory problems in patients with ectodermal dysplasia syndromes |
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| Two deletions overlapping a distant <i>FOXF1</i> enhancer unravel the role of lncRNA <i>LINC01081</i> in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins |
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| Severe presentation of <i>WDR62</i> mutation: Is there a role for modifying genetic factors? |
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| De novo <i>ANKRD11</i> and <i>KDM1A</i> gene mutations in a male with features of KBG syndrome and Kabuki syndrome |
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| Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome |
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| Self‐concept in children with Down syndrome |
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| A child with split‐hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3 |
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| Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion |
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| Advanced bone age in a girl with Wiedemann–Steiner syndrome and an exonic deletion in <i>KMT2A</i> (<i>MLL</i>) |
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| Response to “De novo mutation of the <i>TGFB3</i> latency‐associated peptide domain in a patient with overgrowth and Loeys–Dietz syndrome features” |
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| Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of <i>TRPC5</i> and <i>KLHL15</i> as potential XLID genes |
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| De novo microdeletion of <i>BCL11A</i> is associated with severe speech sound disorder |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 164A, Number 6, June 2014 |
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| Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6‐Mb deletion of 13q12.11–13q12.13 |
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| Erratum to perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet Part A 161A: 578–584 |
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| Cell‐free fetal DNA tests for trisomy show promise in women at lower risk of affected pregnancies |
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| Table of Contents, Volume 164A, Number 6, June 2014 |
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| Gene silencing in fragile X syndrome explained |
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| Response to Li and Liu's “Darwin's statements on reversion or atavism” |
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| Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies |
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| Refinement of the deletion in 8q22.2–q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy |
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| Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice |
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| Barraquer–Simons syndrome: A rare clinical entity |
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| Abnormal brain magnetic resonance imaging in two patients with Smith–Magenis syndrome |
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| De novo mutation of the latency‐associated peptide domain of <i>TGFB3</i> in a patient with overgrowth and Loeys–Dietz syndrome features |
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| Exome sequencing identifies compound heterozygous mutations in <i>C12orf57</i> in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intra |
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| Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1 |
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| New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity |
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| Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of <i>LBX</i> |
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✓ |
✓ |
Spanish |
| Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum |
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| Identification of a novel de novo deletion in <i>RAF1</i> associated with biventricular hypertrophy in Noonan syndrome |
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| A novel mutation in the <i>EDAR</i> gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia |
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| Brain magnetic resonance in the routine management of Rubinstein‐Taybi syndrome (RTS) can prevent life‐threatening events and neurological deficits |
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| Mild nasal clefting may be predictive for <i>ALX4</i> heterozygotes |
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| Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10‐year follow‐up of patients who previously participated in an MPS VI survey study |
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| Darwin's statements on reversion or atavism |
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| Enamel–Renal–Gingival syndrome, hypodontia, and a novel <i>FAM20A</i> mutation |
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| Somatic mosaicism in <i>ACVRL1</i> with transmission to several offspring affected with severe pulmonary arterial hypertension |
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| Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), −22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), −22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), |
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| Evidence for increased <i>SOX3</i> dosage as a risk factor for X‐linked hypopituitarism and neural tube defects |
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| Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia‐telangiectasia‐like disorder: Potential diagnostic clues? |
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| Definition of minimal duplicated region encompassing the <i>XIAP</i> and <i>STAG2</i> genes in the Xq25 microduplication syndrome |
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| Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot |
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| Patient advocates as partners in genetic research |
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| Gender plays role in predicting neuronal dysfunction for patients with neurofibromatosis 1 |
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| In this issue |
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| Table of Contents, Volume 164A, Number 5, May 2014 |
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| American Journal of Medical Genetics Part A: Volume 164A, Number 5, May 2014 |
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| Erratum to “Detection of rarely identified multiple mutations in <i>MECP2</i> gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638–1646 |
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| The perinatal presentation of cardiofaciocutaneous syndrome |
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| Blepharo‐cheilo‐dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature |
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| Orodental manifestations in ectodermal dysplasia—A review |
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| Autism traits in children and adolescents with Cornelia de Lange syndrome |
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| Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors |
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| Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion |
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| Genotype–phenotype correlation in boys with X‐linked hypohidrotic ectodermal dysplasia |
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| Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment |
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| Homozygous <i>N540K</i> hypochondroplasia—First report: Radiological and clinical features |
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| Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of <i>MED12</i> mutations |
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| Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals |
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| The high frequency of genetic diseases in hypotonic infants referred by neuropediatrics |
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| Novel <i>SMAD4</i> mutation causing Myhre syndrome |
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| Etiology and pathogenesis of ectodermal dysplasias |
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| The spectrum of <i>ZEB2</i> mutations causing the Mowat–Wilson syndrome in Japanese populations |
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✓ |
✓ |
Japanese; Japanese MWS patients; Japanese populations |
| Phenotypic features in patients with 15q11.2(BP1‐BP2) deletion: Further delineation of an emerging syndrome |
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| Rodriguez syndrome with <i>SF3B4</i> mutation: A severe form of Nager syndrome? |
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| A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension |
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| The society of craniofacial genetics and developmental biology 36th annual meeting |
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| Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3‐q13.1 microdeletion involving <i>SOX10</i> |
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| Expanding the phenotypic profile of boys with 47, XXY: The impact of familial learning disabilities |
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| An excerpt from “The boys, or waiting for the electrician's daughter” |
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| A day in the life |
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| Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion |
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| Complex mosaic <i>CDKL5</i> deletion with two distinct mutant alleles in a 4‐year‐old girl |
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| Confirmation of 6q21–6q22.1 deletion in Acro‐cardio‐facial syndrome and further delineation of this contiguous gene deletion syndrome |
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| Screening children with neurofibromatosis type 1 for autism spectrum disorder |
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| Upper airway surgery of obstructive sleep apnea in pycnodysostosis: Case report and literature review |
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| 7p22.3 microdeletion disrupting <i>SNX8</i> in a patient presenting with intellectual disability but no tetralogy of Fallot |
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| Hepatomegaly and hyperammonemia in a girl with Silver–Russell syndrome caused by maternal uniparental isodisomy of chromosome 7 |
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| Novel <i>TUBB4A</i> mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H‐ABC) |
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| Parents' experiences of receiving their child's genetic diagnosis: A qualitative study to inform clinical genetics practice |
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| Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms—A further patient |
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| Coffin‐Siris syndrome: Phenotypic evolution of a novel <i>SMARCA4</i> mutation |
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| A novel <i>EBP</i> c.224T>A mutation supports the existence of a male‐specific disorder independent of CDPX2 |
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| Academia, advocacy, and industry: A collaborative method for clinical research advancement |
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| Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion |
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| Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2–24.1 |
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| Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain |
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| A novel homozygous <i>ERCC5</i> truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation |
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| Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome |
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| Autosomal recessive spastic tetraplegia caused by <i>AP4M1</i> and <i>AP4B1</i> gene mutation: Expansion of the facial and neuroimaging features |
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| The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications |
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| The WNT10A gene in ectodermal dysplasias and selective tooth agenesis |
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✓ |
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| Xq28 duplication overlapping the <i>int22h‐1/int22h‐2</i> region and including <i>RAB39B</i> and <i>CLIC2</i> in a family with intellectual and developmental disability |
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| Correspondence regarding: <i>PTEN</i> hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow‐up protocol |
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| Epidemiology of fragile X syndrome: A systematic review and meta‐analysis |
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| Papillary thyroid cancer in a patient with interstitial 6q25 deletion including <i>ARID1B</i> |
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| Duplication of <i>AKT3</i> is associated with macrocephaly and speech delay |
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| Response to Stanich et al.: Correspondence regarding—PTEN hamartoma tumor syndromes in childhood—Description of two cases and a proposal for follow‐up protocol |
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| Evaluation of participant recruitment methods to a rare disease online registry |
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✓ |
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| Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model |
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| Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay |
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| <i>FKBP14</i>‐related Ehlers‐Danlos syndrome: Expansion of the phenotype to include vascular complications |
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| Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri‐du‐chat syndrome in addition to a partial duplication of <i>CTNND2</i> |
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| Haploinsufficiency of <i>MEIS2</i> is associated with orofacial clefting and learning disability |
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| Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course |
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✓ |
✓ |
Swedish |
| Formation of a familial ring chromosome 18 investigated by SNP‐array analysis |
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| Mother and daughter with a novel phenotype of hand and foot anomalies and severe pectus excavatum |
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| Cytogenomic and phenotypic analysis in low‐level monosomy 7 mosaicism with non‐supernumerary ring chromosome 7 |
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| Chromosomal‐array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case |
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| Future developments in XLHED treatment approaches |
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| Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families |
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| Early presentation of cystic kidneys in a family with a homozygous <i>INVS</i> mutation |
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| Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome |
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| Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel <i>ARSB</i> mutations |
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✓ |
✓ |
from Thailand, India, and Turkey; Turkish population |
| The E180splice mutation in the <i>GHR</i> gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World? |
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✓ |
✓ |
✓ |
Eastern European Jews; Sephardic Jewish; Spanish descent; Moroccan origin; Middle East; Portugal and Spain; Mexican origin |
| Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams–Oliver syndrome and <i>ARHGAP31</i> mutations |
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| Multiple congenital anomalies‐intellectual disability (MCA‐ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion |
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| Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing |
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| Cervical spine malformation in cornelia de lange syndrome: A report of three patients |
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| Relationship between whole‐body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis |
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| Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including <i>TRPM1</i>: A differential diagnosis of ceroid lipofuscinosis |
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| Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk |
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✓ |
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✓ |
✓ |
Hispanic |
| A three generation X‐linked family with Kabuki syndrome phenotype and a frameshift mutation in <i>KDM6A</i> |
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| Chondrodysplasia punctata associated with maternal Sjögren syndrome |
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| Hyperphosphatemic familial tumoral calcinosis: Response to acetazolamide and postulated mechanisms |
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✓ |
✓ |
African American |
| A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature |
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| Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous <i>ALX4</i> gene mutation |
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| Identification of a novel missense mutation of <i>MAF</i> in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature |
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| An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies |
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| X‐linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry |
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| A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the <i>HMGB1</i> and <i>KATNAL1</i> genes |
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| Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome |
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| Phenotype of a patient with contiguous deletion of <i>TBX5</i> and <i>TBX3</i>: Expanding the disease spectrum |
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| Modeling AEC—New approaches to study rare genetic disorders |
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| The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases |
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| Outfoxed by <i>RBFOX1</i>‐A caution about ascertainment bias |
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| Chromosomal rearrangements in patients with clinical features of Silver–Russell syndrome |
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| Lymphedema in tuberous sclerosis complex |
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| Craniofacial and dental development in Costello syndrome |
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| Novel <i>FBN1</i> gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome |
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| Mutation spectrum of <i>COL1A1</i> and <i>COL1A2</i> genes in Indian patients with osteogenesis imperfecta |
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| A new intellectual disability syndrome caused by <i>CTNNB1</i> haploinsufficiency |
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| Whole genome sequencing identifies a novel occludin mutation in microcephaly with band‐like calcification and polymicrogyria that extends the phenotypic spectrum |
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| Mutations in <i>HADHB</i>, which encodes the β‐subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy |
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| The Still Point of the Turning World, Emily Rapp, Penguin Press, 2013. |
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| An intragenic deletion of the gene <i>MNAT1</i> in a family with pectus deformities |
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| Challenges of classifying double outlet right ventricle: Importance for genotype–phenotype analyses |
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| Holt–Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo <i>TBX5</i> mutation |
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| Autism and anxiety in males with fragile X syndrome: An exploratory analysis of neurobehavioral profiles from a parent survey |
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| De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity |
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| Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene |
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| Novel homozygous <i>DEAF1</i> variant suspected in causing white matter disease, intellectual disability, and microcephaly |
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| Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5‐year‐old boy—Report of the second family with <i>B3GAT3</i> mutation and expansion of the phenotype |
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| Analysis of two candidate genes for Basan syndrome |
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| De novo heterozygous <i>FBN1</i> mutations in the extreme C‐terminal region cause progeroid fibrillinopathy |
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| A tortuous proximal urethra in urorectal septum malformation sequence? |
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| Segmental overgrowth syndrome due to an activating <i>PIK3CA</i> mutation identified in affected muscle tissue by exome sequencing |
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| Exome analysis of connective tissue dysplasia: Death and rebirth of clinical genetics? |
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| <i>L1CAM</i> whole gene deletion in a child with L1 syndrome |
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| Unexpected exome sequencing result: De novo <i>TRPS1</i> mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity |
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| <i>MMP13</i> mutations are the cause of recessive metaphyseal dysplasia, Spahr type |
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| Encephalocele—radial, cardiac, gastrointestinal, anal/renal anomalies: Novel evidence for a new condition? |
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| Report of a newly indentified patient with mutations in <i>BMP1</i> and underlying pathogenetic aspects |
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| Maternal complex chromosomal rearrangement leads to <i>TCF12</i> microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability |
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|
| American Journal of Medical Genetics Part A: Volume 164A, Number 4, April 2014 |
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| Cell‐free Fetal DNA Tests Appropriately Used by Geneticists, Often Misunderstood by Patients |
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| Online Healthcare Network To Promote Data Sharing, Communication About Genetic Conditions |
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| Corrigendum to “Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A:2316–2320” |
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| In this issue |
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|
| Table of Contents, Volume 164A, Number 4, April 2014 |
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| Gene‐targeted deletion of <i>OPCML</i> and <i>Neurotrimin</i> in mice does not yield congenital heart defects |
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| Yunis–varon syndrome: Further delineation of cardiovascular and endocrine outcome |
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| Occurrence of nephroblastomatosis with dup(18)(q11.2‐q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication |
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| Genetic testing using array comparative genomic hybridization may benefit newborns with congenital heart disease |
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| FDA‐approved Next‐Generation sequencing system could expand clinical genomic testing |
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| In this issue |
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|
|
| American Journal of Medical Genetics Part A: Volume 164A, Number 3, March 2014 |
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| Table of Contents, Volume 164A, Number 3, March 2014 |
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| Cardiac manifestations of Pallister–Killian syndrome |
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| Towards a re‐thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers‐Danlos syndrome, hypermobility type |
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| Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts |
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| Summarizing craniofacial genetics and developmental biology (SCGDB) |
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| A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia |
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| Two mutations in <i>IFITM5</i> causing distinct forms of osteogenesis imperfecta |
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| Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion |
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| Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers‐Danlos syndrome by its dermatological manifestations: Report of three affected patients |
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| Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism |
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| Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a <i>SCARF2</i> microdeletion |
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| Congenital nasal pyriform aperture stenosis and ocular albinism co‐occurring in a sibship with a maternally‐inherited 97 kb Xp22.2 microdeletion |
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| Frequency of <i>FMR1</i> gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan |
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| Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including <i>MECP2</i> |
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✓ |
✓ |
Japanese |
| <i>Klippel‐Trenaunay syndrome</i>in a boy with concomitant ipsilateral overgrowth and undergrowth |
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| If not Angelman, what is it? a review of Angelman‐like syndromes |
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| Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement |
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| Lack of consensus on tests and criteria for generalized joint hypermobility, Ehlers–Danlos syndrome: Hypermobile type and joint hypermobility syndrome |
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| Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly |
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| <i>TBR1</i> is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion |
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| Proposed regulations for research with biospecimens: Responses from stakeholders at CTSA consortium institutions |
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| A novel <i>WTX</i> mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma |
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| Germline <i>CBL</i> mutation associated with a noonan‐like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23 |
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| A de novo 1.4‐Mb deletion at 21q22.11 in a boy with developmental delay |
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✓ |
✓ |
Japanese (Japanese boy) |
| A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis |
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| Tricho‐odonto‐onycho‐dermal dysplasia and <i>WNT10A</i> mutations |
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| A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract |
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| Amyoplasia revisited |
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| Laboratory policies on reporting secondary findings in clinical whole exome sequencing: Initial uptake of the ACMG's recommendations |
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| A case of Rubinstein‐Taybi syndrome and congenital neuroblastoma |
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| An amnion implantation hypothesis: A conceptual framework for mechanism‐based studies of amnion adhesion |
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| Pneumothorax from subpleural blebs—A new association of sotos syndrome? |
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| Somatic <i>CTNNB1</i> mutation in hepatoblastoma from a patient with Simpson–Golabi–Behmel syndrome and germline <i>GPC3</i> mutation |
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| An unusual phenotype of X‐linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene |
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| A vascular and thrombotic model of gastroschisis |
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| Duplication at Xq13.3–q21.1 with syndromic intellectual disability, a probable role for the <i>ATRX</i> gene |
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| A second family with autosomal recessive spondylometaphyseal dysplasia and early death |
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✓ |
✓ |
Lebanese |
| Behavioral Profile in RASopathies |
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| Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G <i>SHOC2</i> mutation |
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| Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia |
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| An individual with blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in <i>KAT6B</i> |
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| <i>MECP2</i>duplication: Possible cause of severe phenotype in females |
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| Keutel syndrome: Report of two novel <i>MGP</i> mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis |
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✓ |
✓ |
Turkish |
| De novo single exon deletion of <i>AUTS2</i> in a patient with speech and language disorder: A review of disrupted <i>AUTS2</i> and further evidence for its role in neurodevelopmental disorders |
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| Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses |
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| Coarctation of the aorta in Noonan‐like syndrome with loose anagen hair |
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| Epidemiologic features of male genital malformations and subtypes in Texas |
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| The smallest de novo deletion of 20q11.21–q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities |
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| Molecular characterization of distal 4q duplication in two patients using oligonucleotide array‐based comparative genomic hybridization (oaCGH) analysis |
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| Hypoglycemia in Prader–Willi syndrome |
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| Monochorionic twins discordant for mosaic trisomy 14 |
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| Long‐term observation of a patient with dominant omodysplasia |
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| Stillbirth: The heart of the matter |
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| Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement |
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| In this issue |
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| Table of Contents, Volume 164A, Number 2, Feabruary 2014 |
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| Patients and families generally welcome secondary genomic findings |
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| Court ruling invalidates patent on noninvasive test for down syndrome |
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| American Journal of Medical Genetics Part A: Volume 164A, Number 2, February 2014 |
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| Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13‐q13.2 microdeletion partially involving the <i>HOXC</i> gene cluster |
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| CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies |
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| <i>SNAI2</i> mutation causes human piebaldism |
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| Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), ‐21 |
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| Exacerbation of BMI after cessation of growth hormone therapy in patients with Prader–Willi syndrome |
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