| A mutation in <i>COL4A2</i> causes autosomal dominant porencephaly with cataracts |
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| Further evidence of a mutation in <i>CDC42</i> as a cause of a recognizable syndromic form of thrombocytopenia |
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| Inaccuracy of non‐invasive prenatal screening demands cautious counsel and follow‐up |
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| Mild humoral immunodeficiency in a patient with X‐linked Kabuki syndrome |
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| Duplications upstream and downstream of <i>SHOX</i> identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature |
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| Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation |
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| <i>FTO</i> variant associated with malformation syndrome |
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✓ |
✓ |
consanguineous Yemeni family |
| Compound heterozygous mutations in <i>NEK8</i> in siblings with end‐stage renal disease with hepatic and cardiac anomalies |
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| Novel X‐linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R |
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| Sleep disturbance in Mowat–Wilson syndrome |
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| Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 167A, Number 12, December 2015 |
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| Table of Contents, Volume 167A, Number 12, December 2015 |
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| Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods |
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| Sweeping changes proposed for “Common rule” |
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| Medical foods prescribed to treat methylmalonic acidemia linked with adverse outcomes for some patients |
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| Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo–Cardio–Facial) syndrome |
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| Coronary artery ectasia in Noonan syndrome: Report of an individual with <i>SOS1</i> mutation and literature review |
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| Distinctive findings in a boy with Simpson–Golabi–Behmel syndrome |
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| Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications |
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| Family perspectives about Down syndrome |
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| Good response to long‐term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature |
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| Table of Contents, Volume 170A, Number 1, January 2016 |
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| Dual testing strategy in autism increases diagnostic yield |
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| Genetic counselor licensure proponents call for more states to adopt licensing laws |
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| In this issue |
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| A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in <i>WDR35</i> |
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| Publication schedule for 2016 |
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| American Journal of Medical Genetics Part A: Volume 170A, Number 1, January 2016 |
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| Survival of children with trisomy 13 and trisomy 18: A multi‐state population‐based study |
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| Rare copy number variants implicated in posterior urethral valves |
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| Phenotypes of 8q13.2–q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome |
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| Microdeletions of the 7q32.2 imprinted region are associated with Silver–Russell syndrome features |
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| Two unique <i>TUBB3</i> mutations cause both CFEOM3 and malformations of cortical development |
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| Report of two novel mutations in <i>PTHLH</i> associated with brachydactyly type E and literature review |
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| Gershoni‐Baruch syndrome: First report of a surviving child |
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| A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous <i>KATNB1</i> mutation |
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✓ |
✓ |
consanguineous Turkish family |
| Book review: Signs and symptoms of genetic conditions—A handbook by LouanneHudgins, Helga V.Toriello, Gregory M.Enns, H. EugeneHoyme, Oxford University Press, 2014; i‐540. |
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| Genotype‐phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature |
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| Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features |
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| MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis |
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| Severe connective tissue laxity including aortic dilatation in Sotos syndrome |
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| Erratum |
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| Massive hemoptysis in Loeys–Dietz syndrome |
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| Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound? |
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| Elevated plasma oxytocin levels in children with Prader–Willi syndrome compared with healthy unrelated siblings |
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| Atypical phenotypes associated with pathogenic <i>CHD7</i> variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria |
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| Novel <i>FANCI</i> mutations in Fanconi anemia with VACTERL association |
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| Dual genetic diagnoses: Atypical hand‐foot‐genital syndrome and developmental delay due to de novo mutations in <i>HOXA13</i> and <i>NRXN1</i> |
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| Complete and partial <i>XYLT1</i> deletion in a patient with neonatal short limb skeletal dysplasia |
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| Hepatoblastoma in a male with <i>MECP2</i> duplication syndrome |
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| SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings |
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| Multigenerational autosomal dominant inheritance of 5p chromosomal deletions |
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| Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy |
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| Whole exome sequencing identified a novel <i>COL2A1</i> mutation that causes mild Spondylo‐epiphyseal dysplasia mimicking autosomal dominant brachyolmia |
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| Depression and hyperactivity in two patients with craniofrontonasal syndrome |
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| A new frontonasal dysplasia syndrome associated with deletion of the <i>SIX2</i> gene |
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| A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation |
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| Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith–Wiedemann sy |
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| A new case of bent bone dysplasia—FGFR2 type and review of the literature |
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| Correspondence to Vorselaars et al. thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation |
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| <i>KIAA2022</i> nonsense mutation in a symptomatic female |
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| Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology? |
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| Corrigendum to “Congenital microcephaly and chorioretinopathy due to de novo heterozygous <i>KIF11</i> mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:287 |
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| Acromesomelic dysplasia, type maroteaux caused by novel loss‐of‐function mutations of the NPR2 gene: Three case reports |
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✓ |
✓ |
Korean |
| “This lifetime commitment”: Public conceptions of disability and noninvasive prenatal genetic screening |
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| Thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation |
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| Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive |
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| Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion |
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| Body proportions in children with Kabuki syndrome |
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| Non‐invasive prenatal screening for trisomy 21: Consumers' perspectives |
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| Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31 |
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| A recurrent germline mutation in the <i>PIGA</i> gene causes Simpson‐Golabi‐Behmel syndrome type 2 |
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| Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus |
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| Microdeletion del(22)(q12.1) excluding the <i>MN1</i> gene in a patient with craniofacial anomalies |
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| Exonic deletions of <i>AUTS2</i> in Chinese patients with developmental delay and intellectual disability |
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| Factors influencing uptake of familial long QT syndrome genetic testing |
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| Russel–Silver syndrome: A historical note and comment on an older adult |
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| Interactions between <i>RAD51</i> rs1801321 and maternal cigarette smoking as risk factor for nonsyndromic cleft lip with or without cleft palate |
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| Prenatal findings in cardio‐facio‐cutaneous syndrome |
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| The categories of cutaneous mosaicism: A proposed classification |
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| <i>BRAT1</i>‐related disease—identification of a patient without early lethality |
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| Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation |
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| The neuromuscular differential diagnosis of joint hypermobility; S. Donkervoort, C. G. Bönnemann, B. Loeys, H. Jungbluth, and N. C. Voermans; Am J Med Genet C Semin Med Genet. 2015 Mar;169(1):23–42 |
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| Informed consent required for federally funded studies on bloodspots |
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| Research sheds light on gene expression differences in 22q11.2 deletion syndrome |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 167A, Number 11, November 2015 |
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| Table of Contents, Volume 167A, Number 11, November 2015 |
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| Elevation of neuron specific enolase and brain iron deposition on susceptibility‐weighted imaging as diagnostic clues for beta‐propeller protein‐associated neurodegeneration in early childhood: Additi |
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| All enamel is not created equal:Supports from a novel <i>FAM83H</i> mutation |
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| Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta |
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| Clinical presentation and survival in a population‐based cohort of infants with gastroschisis in Utah, 1997–2011 |
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| Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival |
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| Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals |
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| Preaxial polydactyly associated with a <i>MSX1</i> mutation and report of two novel mutations |
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| Associated congenital anomalies in infants with isolated gastroschisis: A single‐institutional experience |
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| Novel <i>DDR2</i> mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type |
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✓ |
✓ |
Moroccan |
| Coexistence of neuroblastoma and ganglioneuroma in a girl with a hemizygous deletion of chromosome 11q14.1–23.3 |
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| Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates |
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| Novel loss‐of‐function variants in <i>DIAPH1</i> associated with syndromic microcephaly, blindness, and early onset seizures |
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| Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors |
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| In this issue |
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| An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18 |
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| No major contribution of <i>IGF2</i> variants to the etiology of sporadic 11p15‐associated imprinting disorders |
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| Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes |
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| Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma? |
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| Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review |
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✓ |
✓ |
Mexican mestizo origin; Mexican ancestry |
| Epilepsy is a possible feature in Williams‐Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region |
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| A novel missense mutation in the gene <i>EDARADD</i> associated with an unusual phenotype of hypohidrotic ectodermal dysplasia |
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| Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family |
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| Mosaic deletion of 20pter due to rescue by somatic recombination |
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| First fetal case of the 8q24.3 contiguous genes syndrome |
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| Recurrent duplications of 17q12 associated with variable phenotypes |
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| Large national series of patients with Xq28 duplication involving <i>MECP2</i>: Delineation of brain MRI abnormalities in 30 affected patients |
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| Pathogenenic variant in the <i>COL2A1</i> gene is associated with Spondyloepiphyseal dysplasia type Stanescu |
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| Long‐term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18‐year‐old male with g.55G>A homozygous mutation in <i>RNU4ATAC</i> |
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| Myhre syndrome: Clinical features and restrictive cardiopulmonary complications |
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| A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163kb and microduplication of 288kb at 11p13 and 11q22.3 without aniridia or eye anomalies |
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| A novel <i>PIGN</i> mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency |
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| Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion |
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| Rare genomic rearrangement in a boy with Williams–Beuren syndrome associated to XYY syndrome and intriguing behavior |
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| Work participation in adults with Marfan syndrome: Demographic characteristics, MFS related health symptoms, chronic pain, and fatigue |
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| <i>PDZD7</i> and hearing loss: More than just a modifier |
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| The behavioral characteristics of Sotos syndrome |
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| Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management |
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| Congenital heart defects common in rhizomelic chondrodysplasia punctata |
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| Down syndrome birth weight in England and Wales: Implications for clinical practice |
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| Editorial comment on McPherson and Cold |
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| Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy |
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| Nosology and classification of genetic skeletal disorders: 2015 revision |
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| Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy |
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✓ |
✓ |
panethnic |
| Vici syndrome in siblings born to consanguineous parents |
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| Identification of a novel nonsense mutation in the <i>FOXP3</i> gene in a fetus with hydrops—Expanding the phenotype of IPEX syndrome |
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| Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? |
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| Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region |
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✓ |
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| Gonadal mosaicism in <i>ARID1B</i> gene causes intellectual disability and dysmorphic features in three siblings |
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| Hearing impairment and renal failure associated with <i>RMND1</i> mutations |
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| Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy |
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| Macrothrombocytopenia and developmental delay with a <i>de novo CDC42</i> mutation: Yet another locus for thrombocytopenia and developmental delay |
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| Compound heterozygous <i>PKHD1</i> variants cause a wide spectrum of ductal plate malformations |
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| Duplication of 10q22.3–q23.3 encompassing <i>BMPR1A</i> and <i>NGR3</i> associated with congenital heart disease, microcephaly, and mild intellectual disability |
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| Fetal alcohol spectrum disorders: Clinical phenotype among a high‐risk group of children and adolescents in Korea |
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| The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to <i>CHST14</i> mutations |
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| A novel missense mutation of <i>TNNI2</i> in a Chinese family cause distal arthrogryposis type 1 |
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✓ |
✓ |
Chinese |
| Minor anomalies in stillborn and second trimester miscarried fetuses |
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| Compound heterozygous variants in the <i>LARP7</i> gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability |
✓ |
✓ |
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✓ |
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Northern European/Caucasian female |
| Two novel <i>POC1A</i> mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations |
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| A novel mutation in two Hmong families broadens the range of <i>STRA6</i>‐related malformations to include contractures and camptodactyly |
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✓ |
✓ |
Hmong ancestry |
| Bohring–Opitz syndrome (BOS) with a new <i>ASXL1</i> pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome |
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| Report of a patient with a constitutional missense mutation in <i>SMARCB1</i>, Coffin–Siris phenotype, and schwannomatosis |
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| A <i>PIGN</i> mutation responsible for multiple congenital anomalies–hypotonia–seizures syndrome 1 (MCAHS1) in an Israeli–Arab family |
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| Familial recurrences of <i>FOXG1</i>‐related disorder: Evidence for mosaicism |
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| Quality of life in osteogenesis imperfecta: A mixed‐methods systematic review |
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| American society of human genetics updates guidance on genetic testing in children |
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| Young Italian clinician wins opitz award |
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| Table of Contents, Volume 167A, Number 10, October 2015 |
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| American Journal of Medical Genetics Part A: Volume 167A, Number 10, October 2015 |
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| Association between Kniest dysplasia and chondrosarcoma in a child |
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| Congenital anomalies associated with trisomy 18 or trisomy 13: A registry‐based study in 16 european countries, 2000–2011 |
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✓ |
✓ |
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in Europe; 16 European countries |
| Severe CNS involvement in <i>WWOX</i> mutations: Description of five new cases |
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| Confirmation of autosomal recessive inheritance of <i>COL2A1</i> mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling |
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| Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities |
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| Tentative clinical diagnosis of Lujan‐Fryns syndrome—A conglomeration of different genetic entities? |
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| Expanding the phenotype of feingold syndrome‐2 |
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| Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of <i>CDKN1C</i> in a child with Russell–Silver syndrome |
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| Early‐onset encephalopathy with epilepsy associated with a novel splice site mutation in <i>SMC1A</i> |
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| Xq21.31–q21.32 duplication underlies intellectual disability in a large family with five affected males |
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| Severe congenital neutropenia with neurological impairment due to a homozygous <i>VPS45</i> p.E238K mutation: A case report suggesting a genotype–phenotype correlation |
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| Intellectual disability and overgrowth—A new case of 19p13.13 microdeletion syndrome with digital abnormalities |
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| A unique <i>TBX5</i> microdeletion with microinsertion detected in patient with Holt–Oram syndrome |
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| 7q11.23 Duplication syndrome: Physical characteristics and natural history |
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| A microdeletion encompassing <i>PHF21A</i> in an individual with global developmental delay and craniofacial anomalies |
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| New patients with Temple syndrome caused by 14q32 deletion: Genotype‐phenotype correlations and risk of thyroid cancer |
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| Beyond Ohdo syndrome: A familial missense mutation broadens the <i>MED12</i> spectrum |
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| 6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities |
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| Femoral‐tibial‐digital malformations in a boy with the Japanese founder triplication of <i>BHLHA9</i> |
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✓ |
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Japanese |
| Paternal uniparental disomy chromosome 14‐like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG‐ and the MEG3‐DMRs: Patient report and genotype–phenotype c |
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| <i>RBBP8</i> syndrome with microcephaly, intellectual disability, short stature and brachydactyly |
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| Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199–214 cluster in the skeletal features of the condition |
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| A recurrent synonymous <i>KAT6B</i> mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing |
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| Identification of disrupted <i>AUTS2</i> and <i>EPHA6</i> genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disord |
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| 11q24.2‐25 micro‐rearrangements in autism spectrum disorders: Relation to brain structures |
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| Thyroid nodules on chest CT of patients with tuberous sclerosis complex |
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| Autism spectrum disorder in Prader–Willi syndrome: A systematic review |
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| Female patient with autistic disorder, intellectual disability, and co‐morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2–q13.31 microdeletion |
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| Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18 |
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| Resolution of refractory hypotension and anuria in a premature newborn with loss‐of‐function of ACE |
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| Chronic pain in Noonan Syndrome: A previously unreported but common symptom |
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| Homozygous deletion of <i>TRMT10A</i> as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus |
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| In this issue |
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| De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome |
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| NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina |
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✓ |
✓ |
✓ |
a group of patients of European descent; Siberian Yakut population |
| American Journal of Medical Genetics Part A: Volume 167A, Number 9, September 2015 |
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| Copy number variants linked to intellectual disability, less education |
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| Phosphoglucomutase‐1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency |
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✓ |
✓ |
different ethnic backgrounds |
| Co‐occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in <i>PTPN11</i> |
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✓ |
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Japanese |
| Genetic factors may underlie many cerebral palsy cases |
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| Table of Contents, Volume 167A, Number 9, September 2015 |
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| Presentation of m.3243A>G (MT‐TL1; tRNALeu) variant with focal neurology in infancy |
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| Clinical and genetic characteristics of craniosynostosis in Hungary |
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| Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel <i>ROR2</i> gene mutations |
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| Interstitial microdeletions including the chromosome band 4q13.2 and the <i>UBA6</i> gene as possible causes of intellectual disability and behavior disorder |
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| The effect of genetic test‐based risk information on behavioral outcomes: A critical examination of failed trials and a call to action |
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| Exome analysis of a family with Wolff–Parkinson–White syndrome identifies a novel disease locus |
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| Atypical Williams syndrome in an infant with complete atrioventricular canal defect |
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| Marfan syndrome patient experiences as ascertained through postings on social media sites |
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| Craniosynostosis and Noonan syndrome with<i>KRAS</i>mutations: Expanding the phenotype with a case report and review of the literature |
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| National down syndrome patient database: Insights from the development of a multi‐center registry study |
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| <i>SOX2</i> anophthalmia syndrome and dental anomalies |
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| Dysspondyloenchondromatosis (DSC) associated with <i>COL2A1</i> mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia‐Strudwick type (SEMD‐S) |
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| Mosaic partial deletion of <i>PTPN12</i> in a child with interrupted aortic arch type A |
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| A mutation in <i>TRPV4</i> results in altered chondrocyte calcium signaling in severe metatropic dysplasia |
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| Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta |
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| Menkes disease with discordant phenotype in female monozygotic twins |
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| Progressive hip joint subluxation in Saul‐Wilson syndrome |
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| Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome |
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| Silver‐Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor sperm |
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| A novel 2q37 microdeletion containing human neural progenitors genes including <i>STK25</i> results in severe developmental delay, epilepsy, and microcephaly |
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| New insights into central nervous system involvement in FOP: Case report and review of the literature |
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| Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2? |
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| Elucidating discrepant results in a prenatal diagnosis of 48,XXY,+18 (Edwards and Klinefelter syndromes) |
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| Response to long‐term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data |
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| Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes |
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| Canaries in the coal mine: Personal and professional impact of undergoing whole genome sequencing on medical professionals |
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| Comment: The midline |
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| Mosaic paternal genome‐wide uniparental isodisomy with down syndrome |
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| The neurobehavioral and molecular phenotype of Angelman Syndrome |
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| American Journal of Medical Genetics Part A: Volume 167A, Number 8, August 2015 |
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| Whole‐genome sequencing can improve care of severely ill infants |
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| Table of Contents, Volume 167A, Number 8, August 2015 |
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| Can adolescents make predictive genetic testing decisions? |
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| In this issue |
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| Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry |
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✓ |
✓ |
✓ |
European‐derived; African ancestry; Asian populations; 'ethnic' differences |
| Experiences with obtaining informed consent for genomic sequencing |
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| Detection of mutually exclusive mosaicism in a girl with genotype‐phenotype discrepancies |
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| Atypical presentation of moyamoya disease in an infant with a de novo <i>RNF213</i> variant |
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| <i>Sonic Hedgehog</i>, VACTERL, and Fanconi anemia: Pathogenetic connections and therapeutic implications |
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| Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14 |
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| Behavioral characteristics associated with 19p13.2 microdeletions |
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| Targeted leukodystrophy diagnosis based on charges and yields for testing |
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| Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3–p25.3 |
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✓ |
✓ |
Iranian parents |
| Response to Finsterer and Stöllberger “Explanations for discordance of noncompaction in monozygotic twins” |
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| Blastogenetic associations: General considerations |
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| Genochondromatosis type I: A clinicoradiological study of four family members |
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| The VACTERL Association as a disturbance of cell fate determination |
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| Novel <i>KIF7</i> missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome |
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| Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex |
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| Volvulus and bowel obstruction in ATR‐X syndrome—clinical report and review of literature |
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| Pseudoachondroplasia and painful sequelae |
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| Significance and reporting of incidental findings concerning family medical history |
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| Congenital limb deficiencies in Alberta—a review of 33 years (1980–2012) from the Alberta Congenital Anomalies Surveillance System (ACASS) |
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| An inner god: BEN E. KATZ (1921–2015) as geneticist |
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| Is VACTERL a laterality defect? |
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| Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype |
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| Differentiating between copy‐number‐variation and gain‐of‐function mutation |
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| Familial <i>TAB2</i> microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot |
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| <i>Drosophila</i> model of Meier‐Gorlin syndrome based on the mutation in a conserved C‐Terminal domain of Orc6 |
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| Refinement of the postnatal growth restriction locus of chromosome 5q12‐13 deletion syndrome |
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| Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields |
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| Aortic dimensions in Turner syndrome |
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| ALG3‐CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation |
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| A novel mutation Ser344Cys in <i>FGFR3</i> causes achondroplasia with severe platyspondyly |
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| Identification of a novel mutation in <i>RIPK4</i> in a kindred with phenotypic features of Bartsocas‐Papas and CHAND syndromes |
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| Trisomy 15 mosaicism: Challenges in prenatal diagnosis |
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| Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents |
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| 10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies |
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| Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders |
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| Expanding the <i>SPECC1L</i> mutation phenotypic spectrum to include Teebi hypertelorism syndrome |
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| A girl with incomplete Prader–Willi syndrome and negative MS‐PCR, found to have mosaic maternal UPD‐15 at SNP array |
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| A 3‐year‐old girl with Trisomy 18 and intussusception with Meckel's diverticulum |
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| Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation |
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| Dandy–Walker malformation, genitourinary abnormalities, and intellectual disability in two families |
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| When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina |
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✓ |
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| Familial 7q11.23 duplication with variable phenotype |
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| Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including <i>TUBB</i>3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation |
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| Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17–19, 2014 |
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| De novo 4q duplication/deletion in a fetus with a congenital heart defect |
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| Intestinal malrotation in Rubinstein–Taybi syndrome |
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| Marfan syndrome database information unreliable for diagnoses |
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| Respectful communication by geneticists important for parents of children with undiagnosed disorders |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 167A, Number 7, July 2015 |
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| Table of Contents, Volume 167A, Number 7, July 2015 |
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| Erratum to Coffin–Siris Syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing—Am J Med Genet Part C |
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| Improved growth velocity of a patient with Noonan‐like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low‐dose growth hormone therapy |
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| Heterozygous mutations in <i>ERF</i> cause syndromic craniosynostosis with multiple suture involvement |
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| Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys‐Dietz syndrome |
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| Sleep profiles in children with down syndrome |
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| Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance |
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| Maternal and fetal capillary malformation–arteriovenous malformation (CM–AVM) due to a novel <i>RASA1</i> mutation presenting with prenatal non‐immune hydrops fetalis |
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| Multi‐system involvement in a severe variant of fibrodysplasia ossificans progressiva (<i>ACVR1</i>c.772G>A; R258G): A report of two patients |
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| Total body irradiation in a patient with fragile X syndrome for acute lymphoblastic leukemia in preparation for stem cell transplantation: A case report and literature review |
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| Targeted gene capture and massively parallel sequencing identify <i>TMC1</i> as the causative gene in a six‐generation Chinese family with autosomal dominant hearing loss |
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✓ |
✓ |
Chinese; Chinese population |
| Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome |
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| Beyond the Pale. Folklore, family and the mystery of our hidden genes by Emily Urquhart. Harper collins, Canada. ISBN: 9780062389169/10: 0062389165, 288 p |
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| De novo, heterozygous, loss‐of‐function mutations in <i>SYNGAP1</i> cause a syndromic form of intellectual disability |
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| A homozygous<i>B3GAT3</i>mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes |
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| Enhancing genomic laboratory reports from the patients' view: A qualitative analysis |
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| Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX |
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| Prevalence and clinical presentation of headache in a National Neurofibromatosis 1 Service and impact on quality of life |
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| Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects |
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| Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study |
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| Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies |
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| Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report |
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| De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter |
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| Explanations for discordance of noncompaction in monozygotic twins |
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| Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear <i>MTO1</i> and a mitochondrial <i>MT‐TF</i> variant |
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| Corrigendum to “Improvement of regressive autism symptoms in a child with <i>TMLHE</i> deficiency following carnitine supplementation” |
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| SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia |
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| A de novo 1.58 Mb deletion, including <i>MAP2K6</i> and mapping 1.28 Mb upstream to <i>SOX9</i>, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures |
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| Etiology and pathogenesis of robin sequence in a large Dutch cohort |
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| Fetal akinesia deformation sequence due to a congenital disorder of glycosylation |
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| De Novo 17q24.2–q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features |
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| Disclosure of psychiatric manifestations of 22q11.2 deletion syndrome in medical genetics: A 12‐year retrospective chart review |
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| Polymicrogyria in a 10‐month‐old boy with Mowat–Wilson syndrome |
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| Paroxysmal supraventricular tachycardia in pregnant women and birth outcomes of their children: A population‐based study |
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| Genetic pathways explored for role in cystic fibrosis |
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| 23andme obtains permission to market bloom syndrome test |
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| Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 167A, Number 6, June 2015 |
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| Compound heterozygous myotonic dystrophy type 1 |
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| Table of Contents, Volume 167A, Number 6, June 2015 |
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| 35<sup>th</sup> Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting |
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| A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding <i>inositol polyphosphate phosphatase‐like 1</i> (<i>INPPL1</i>) |
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| Intrafamilial clinical heterogeneity of <i>CSPP1</i>‐related ciliopathy |
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| Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay |
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| Birth prevalence of Robin sequence in the Netherlands from 2000‐2010: a retrospective population‐based study in a large Dutch cohort and review of the literature |
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| A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations |
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| Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening |
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✓ |
✓ |
Chinese |
| Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction |
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| Novel and recurrent mutations in <i>WISP3</i> and an atypical phenotype |
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| Ketotifen suppression of NF1 neurofibroma growth over 30 years |
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| Pain interference in youth with neurofibromatosis type 1 and plexiform neurofibromas and relation to disease severity, social‐emotional functioning, and quality of life |
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| ADAMTSL4‐associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description |
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✓ |
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European founder mutation |
| Copy number variants including RAS pathway genes—How much RASopathy is in the phenotype? |
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| The fetal brain transcriptome and neonatal behavioral phenotype in the Ts1Cje mouse model of Down syndrome |
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| Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature |
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| Consider the neuro‐cardiac continuum of Coffin‐Lowry syndrome! |
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| Report of a case of Raine syndrome and literature review |
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| <i>GLI2</i> mutations typically result in pituitary anomalies with or without postaxial polydactyly |
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| In response to “In utero exposure to methotrexate and risk of congenital malformations” |
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| Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA) |
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| Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations |
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| Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population |
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| Glioblastoma multiforme in a child with tuberous sclerosis complex |
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| Chromosome fragility at FRAXA in human cleavage stage embryos at risk for fragile X syndrome |
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| Response to Phelan K. et al.: 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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| Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature |
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| Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC) |
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| Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathy |
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| Of mice and cats (both calico): Mary F Lyon, FRS (1925–2014) |
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| Improvement of regressive autism symptoms in a child with <i>TMLHE</i> deficiency following carnitine supplementation |
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| In utero exposure to methotrexate and risk of congenital malformations |
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| Somatic mosaicism of a novel <i>IKBKG</i> mutation in a male patient with incontinentia pigmenti |
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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” <i>American Journal of Medical Geneti |
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| Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation |
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| Partial trisomy 21: A fifty‐year follow‐up visit |
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| A familial 7q36.3 duplication associated with agenesis of the corpus callosum |
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| A novel splice site mutation in <i>SMARCAL1</i> results in aberrant exon definition in a child with schimke immunoosseous dysplasia |
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| An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome |
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| Risk factors for Dandy–Walker malformation: A population‐based assessment |
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| 10 years later: Assessing the impact of public health efforts on the collection of family health history |
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| A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity |
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| A de novo Mutation in <i>KMT2A</i> (<i>MLL</i>) in monozygotic twins with Wiedemann–Steiner Syndrome |
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| Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome‐Hereditary Hemorrhagic Telangiectasia due to <i>SMAD4</i> |
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| The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects |
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| De novo <i>SHANK3</i> mutation causes Rett syndrome‐like phenotype in a female patient |
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| Experience of a skeletal dysplasia registry in Turkey: A five‐years retrospective analysis |
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| The phenotype of multiple congenital anomalies‐hypotonia‐seizures syndrome 1: Report and review |
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✓ |
✓ |
Mexican American |
| Parental strategies to help children with phenylketonuria (PKU) cope with feeling different |
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| Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo <i>NDUFB11</i> mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy |
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| High functioning male with fragile X syndrome and fragile X‐associated tremor/ataxia syndrome |
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| Clinical management of patients with <i>ASXL1</i> mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance |
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| Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery |
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| Identification of a premature stop codon mutation in the <i>PHGDH</i> gene in severe Neu‐Laxova syndrome—evidence for phenotypic variability |
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| Maternal factors associated with the occurrence of gastroschisis |
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| Ataxia‐telangiectasia with female fertility |
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| Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses |
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| A postzygotic <i>NRAS</i> mutation in a patient with Schimmelpenning syndrome |
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| An attenuated phenotype of Costello syndrome in three unrelated individuals with a <i>HRAS</i> c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences |
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| Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome |
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| Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia |
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| Importance of a multidisciplinary approach and monitoring in fetal warfarin syndrome |
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| Frontometaphyseal dysplasia and keloid formation without <i>FLNA</i> mutations |
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| Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium |
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| Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects |
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| Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome |
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| New recessive truncating mutation in <i>LTBP3</i> in a family with oligodontia, short stature, and mitral valve prolapse |
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| Resolution of refractory hypotension and anuria in a premature newborn with loss‐of‐function of ACE |
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| Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13 |
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| Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing |
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| Community dissemination and genetic research: Moving beyond results reporting |
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✓ |
✓ |
Yup'ik Alaska Native people; Alaska Native participants |
| <i>FBXO28</i> is a critical gene of the 1q41q42 microdeletion syndrome |
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| Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect |
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| Remembered: F. Clarke Fraser |
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| Phenotypic variation of <i>TTC19</i>‐deficient mitochondrial complex III deficiency: A case report and literature review |
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| Autistic and Rett‐like features associated with 2q33.3–q34 interstitial deletion |
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| Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome |
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| A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction |
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| Methadone use in a male with the <i>FMRI</i> premutation and FXTAS |
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| Tetrasomy 18p: Report of cognitive and behavioral characteristics |
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| Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome |
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| Children with 7q11.23 duplication syndrome: Psychological characteristics |
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| Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD) |
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| 3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients |
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| Deletion 1q43‐44 in a patient with clinical diagnosis of Warburg–Micro syndrome |
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| Erratum to “The spectrum of <i>ZEB2</i> mutations causing the Mowat‐Wilson syndrome in Japanese populations” |
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| Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012] |
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| Elevation of insulin‐like growth factor binding protein‐2 level in Pallister–Killian syndrome: Implications for the postnatal growth retardation phenotype |
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| Successful use of acetazolamide for central apnea in a child with Pitt–Hopkins syndrome |
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| Patients with isolated oligo/hypodontia caused by RUNX2 duplication |
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| Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1 |
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| Duplication of <i>SOX3</i> (Xq27) may be a risk factor for Neural Tube Defects |
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| The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach |
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| Co‐occurrence of a de novo Williams and 22q11.2 microdeletion syndromes |
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| A novel missense mutation in the <i>NSDHL</i> gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome |
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| Delineation of the <i>KIAA2022</i> mutation phenotype: Two patients with X‐linked intellectual disability and distinctive features |
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| Early onset ectopia lentis due to a <i>FBN1</i> mutation with non‐penetrance |
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| Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in <i>COL2A1</i> |
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| Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures |
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| Concurrent diagnoses of Prader–Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15 |
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| Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date |
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| Compound heterozygote <i>CDK5RAP2</i> mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay |
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| 46,XY disorders of sex development and congenital diaphragmatic hernia: A case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly |
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| Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay |
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| Whole exome sequencing identifies de novo heterozygous <i>CAV1</i> mutations associated with a novel neonatal onset lipodystrophy syndrome |
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✓ |
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|
of European origin |
| Autism in siblings often caused by different faulty genes, study says |
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| Table of Contents, Volume 167A, Number 5, May 2015 |
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| Maternal germinal mosaicism for <i>SCN1A</i> in sibs with a mild form of Dravet syndrome |
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| American Journal of Medical Genetics Part A: Volume 167A, Number 5, May 2015 |
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| Further supporting evidence for the <i>SATB2</i>‐associated syndrome found through whole exome sequencing |
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| Federal plan to advance targeted disease treatment unclear on benefits for children with rare diseases |
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| In this issue |
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| Cardiovascular malformations in Adams–Oliver syndrome |
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| <i>TCF12</i> microdeletion in a 72‐year‐old woman with intellectual disability |
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| A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders |
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| Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia |
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| Severe osteogenesis imperfecta caused by double glycine substitutions near the amino‐terminal triple helical region in <i>COL1A2</i> |
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| Moyamoya disease in two patients with Noonan‐like syndrome with loose anagen hair |
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| Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in turner syndrome |
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| Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome |
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| An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs |
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| Overlap of juvenile polyposis syndrome and cowden syndrome due to de novo chromosome 10 deletion involving <i>BMPR1A</i> and <i>PTEN</i>: Implications for treatment and surveillance |
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| Characterization of facial phenotypes of children with congenital hypopituitarism and their parents: A matched case‐control study |
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✓ |
✓ |
French Canadian ancestry; French Canadian patients |
| Noonan syndrome‐like disorder with loose anagen hair: A second case with neuroblastoma |
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| High plasma neurotensin levels in children with Prader–Willi syndrome |
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| Medical procedures and outcomes of Japanese patients with trisomy 18 or trisomy 13: Analysis of a nationwide administrative database of hospitalized patients |
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| Summary of the 2nd international symposium on arthrogryposis, St. Petersburg, Russia, September 17‐19, 2014 |
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| Clinical, structural, biochemical and X‐ray crystallographic correlates of pathogenicity for variants in the C‐propeptide region of the <i>COL3A1</i> gene |
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| A familial interstitial 4q35 deletion with no discernible clinical effects |
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| Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18 |
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| Developmental status of 22 children with trisomy 18 and eight children with trisomy 13: Implications and recommendations |
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| Novel homozygous mutation in <i>KPTN</i> gene causing a familial intellectual disability‐macrocephaly syndrome |
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✓ |
✓ |
Amish; Estonian |
| A germline <i>MTOR</i> mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces |
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✓ |
✓ |
Aboriginal Australian |
| Mutations in <i>FARS2</i> and non‐fatal mitochondrial dysfunction in two siblings |
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| De novo exon 1 deletion of <i>AUTS2</i> gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review |
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| Molecular cytogenetic characterization of a 2q35‐q37 duplication and a 4q35.1‐q35.2 deletion in two cousins: A genotype–phenotype analysis |
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| 12q21.2q22 deletion: A new patient |
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| STAR syndrome is part of the differential diagnosis of females with anorectal malformations |
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| <i>RPL10</i> mutation segregating in a family with X‐linked syndromic Intellectual Disability |
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| Geleophysic dysplasia: A novel in‐frame deletion of a tandem repeat in the <i>ADAMTSL2</i> gene |
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| The unprecedented recurrent diploid/tetraploid mosaicism of trisomy‐18 (mixoploidy; 4n+18/2n+18): Clinical report |
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| Pericardial effusion associated with hypothyroidism in an adult female with down syndrome |
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| Allan–Herndon–Dudley syndrome with unusual profound sensorineural hearing loss |
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| Haploinsufficiency of<i>ANO6, NELL2</i>and<i>DBX2</i>in a boy with intellectual disability and growth delay |
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| Exome sequencing identifies a homozygous <i>C5orf42</i> variant in a Turkish kindred with oral‐facial‐digital syndrome type VI |
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| Deletion of chromosome 8q22.1, a critical region for Nablus mask‐like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype |
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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: Additional information |
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| 4q21 microdeletion in a patient with epilepsy and brain malformations |
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| The <i>ACVRL1</i> c.314—35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with <i>ENG</i> mutations, but not in patients with <i>A |
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| Duplication of <i>HEY2</i> in cardiac and neurologic development |
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| Comment on The extraordinary career of Professor Dr Simon van Creveld |
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| Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review |
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| <i>MED23</i>‐associated intellectual disability in a non‐consanguineous family |
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| Goldberg–Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy |
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| Adult presentation of X‐linked Conradi‐Hünermann‐Happle syndrome |
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| A maternally inherited 16p13.11‐p12.3 duplication concomitant with a de novo <i>SOX5</i> deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmor |
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| Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy |
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| Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in <i>COL5A1</i> |
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| Catatonia in an adolescent with velo‐cardio‐facial syndrome |
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| Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation |
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| <i>ELP2</i> is a novel gene implicated in neurodevelopmental disabilities |
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| Persistence of müllerian duct structures in a genetic male with distal monosomy 10q |
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| Phenotype of a child with Angelman syndrome born to a woman with Prader–Willi syndrome |
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| Table of Contents, Volume 167A, Number 4, April 2015 |
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| Re‐evaluation casts doubt on the pathogenicity of homozygous <i>USH2A</i> p.C759F |
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| The society for craniofacial genetics and developmental biology 37th annual meeting |
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| Legal, ethical issues loom over topic of recontacting patients |
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| Settlement reached over medicaid coverage of cystic fibrosis drug |
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| An atypical 0.73 MB microduplication of 22q11.21 and a novel <i>SALL4</i> missense mutation associated with thumb agenesis and radioulnar synostosis |
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| American Journal of Medical Genetics Part A: Volume 167A, Number 4, April 2015 |
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| In this issue |
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| Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients |
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| A case study of brain morphometry in triplets discordant for Down syndrome |
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| Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in <i>FLNA</i> and an atypical paternal phenotype: Insights into genotype–phenotype correlation |
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| Facing up to the challenges of advancing Craniofacial Research |
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| A familial<i>GLI2</i>deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype |
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| A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health |
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| Two novel homozygous missense mutations in the <i>GDF5</i> gene cause brachydactyly type C |
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| Borderline cognitive level in a family with Bazex‐Dupré‐Christol syndrome |
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✓ |
✓ |
Italian |
| In Memoriam: S. Harvey Mudd |
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| Carlos F. Salinas, DMD (April 9, 1941–January 14, 2015) |
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| De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay |
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| <i>FLCN</i> intragenic deletions in Chinese familial primary spontaneous pneumothorax |
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✓ |
✓ |
Chinese |
| Mutations in <i>LONP1</i>, a mitochondrial matrix protease, cause CODAS syndrome |
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| Oculoectodermal syndrome is a mosaic RASopathy associated with <i>KRAS</i> alterations |
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| Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the <i>MN1</i> gene |
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| Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification |
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| Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans |
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✓ |
✓ |
✓ |
|
|
European (US white and Danish) |
| Infantile onset Vanishing White Matter disease associated with a novel <i>EIF2B5</i> variant, remarkably long life span, severe epilepsy, and hypopituitarism |
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| Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype |
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| Twenty‐five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status |
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| A 7‐month‐old male with Allan‐Herndon‐Dudley syndrome and the power of T3 |
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| Speech and language in a genotyped cohort of individuals with Kabuki syndrome |
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| Stress and coping in parents of children with Prader‐Willi syndrome: Assessment of the impact of a structured plan of care |
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| <i>CNKSR2</i> deletions: A novel cause of X‐linked intellectual disability and seizures |
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| Derogatory nomenclature is still being used: The example of split hand/foot |
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| Partial monosomy of 11q22.2q22.3 including the <i>SDHD</i> gene in individuals with developmental delay |
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| Mosaic overgrowth with fibroadipose hyperplasia due to <i>AKT1</i> mutation |
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| An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation |
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| Effective provision of a genetic screening program delivered to University students with limited resources |
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| A novel mutation in <i>RNU4ATAC</i> in a patient with microcephalic osteodysplastic primordial dwarfism type I |
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| Mosaic trisomy 15 in a liveborn infant |
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| Exome sequencing reveals compound heterozygous mutations in <i>ATP8B1</i> in a <i>JAG1/NOTCH2</i> mutation‐negative patient with clinically diagnosed Alagille syndrome |
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| Novel de novo mutations in <i>EFTUD2</i> detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome |
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| A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum |
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| Constitutional chromothripsis involving chromosome 19 in a child with subtle dysmorphic features |
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| Six additional cases of SEDC due to the same and recurrent R989C mutation in the <i>COL2A1</i> gene—the clinical and radiological follow‐up |
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| Long term follow‐up in a patient with a de novo microdeletion of 14q11.2 involving <i>CHD8</i> |
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| <i>FBN1</i> contributing to familial congenital diaphragmatic hernia |
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| Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology |
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| Skeletal overgrowth syndrome caused by overexpression of C‐type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1) |
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| Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment |
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| Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III) |
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| Genetic causes of intellectual disability in a birth cohort: A population‐based study |
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| Expanding the phenotypic spectrum in <i>EP300</i>‐related Rubinstein–Taybi syndrome |
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| Etiology of non‐immune hydrops fetalis: An update |
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| <i>MEIS2</i> involvement in cardiac development, cleft palate, and intellectual disability |
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| Psychiatric disorders in children with Prader–Willi syndrome—Results of a 2‐year longitudinal study |
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| Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes |
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| Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion |
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| Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997–2009 |
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✓ |
✓ |
race/ethnicity |
| Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization |
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| A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders |
|
✓ |
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✓ |
✓ |
mixed race; Cape Coloured (mixed race) population |
| A family of distal arthrogryposis type 5 due to a novel <i>PIEZO2</i> mutation |
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| A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome |
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| Anticipation in myotonic dystrophy type 1 parents with small CTG expansions |
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| Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog |
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| Multi‐systemic involvement in NGLY1‐related disorder caused by two novel mutations |
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| A novel mutation in <i>COL4A1</i> gene: A possible cause of early postnatal cerebrovascular events |
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| Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies |
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| Sex‐discordant monochorionic twins with blood and tissue chimerism |
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| Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro‐dermato‐osseous‐dysplasia |
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| Neonatal diabetes mellitus due to a novel mutation in the <i>GATA6</i> gene accompanying renal dysfunction: A case report |
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| Beare–Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve |
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| Mutations in <i>PIGL</i> in a patient with Mabry syndrome |
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| Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy |
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| Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non‐syndromic dilated cardiomyopathy |
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| Thiamine responsive megaloblastic anemia syndrome: A novel homozygous <i>SLC19A2</i> gene mutation identified |
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| Neonatal pulmonary arterial hypertension and Noonan syndrome: Two fatal cases with a specific <i>RAF1</i> mutation |
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| An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome? |
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| Longitudinal polysomnographic findings in infantile Pompe disease |
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| Grade II pilocytic astrocytoma in a 3‐month‐old patient with encephalocraniocutaneous lipomatosis (ECCL): Case report and literature review of low grade gliomas in ECCL |
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| <i>ECEL1</i> mutation causes fetal arthrogryposis multiplex congenita |
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| Anirdia‐like phenotype caused by 6p25 dosage aberrations |
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| Partial <i>MEF2C</i> deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature |
|
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|
✓ |
✓ |
Cypriot descent; Cypriot descent |
| “X‐linked mental retardation and conjuntival teleangectasias”: Correction of the previously reported karyotype |
|
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| Response to “Prenatal genetic counseling in klinefelter syndrome: Comments on the article by Lalatta and Tint [2013] and a proposal of a new approach” by Pimpolari et al. |
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| Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: Illuminating the developmental relationship to risk for psychosis |
|
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| 17q12 Microduplications: A challenge for clinicians |
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| Further insight into the phenotype associated with a mutation in the <i>ORC6</i> gene, causing Meier–Gorlin syndrome 3 |
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| Recurrent enlarged nuchal translucency: First trimester presentation of a familial 15q26→qter deletion |
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| Renal complications in 6p duplication syndrome: Microarray‐based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal se |
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| Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in <i>UBE3B</i> |
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| Research delves into role of key proteins in fragile X syndrome |
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| Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders |
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| Increased plasma chemokine levels in children with Prader–Willi syndrome |
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| Significant clinical benefits of molecular studies in the skeletal dysplasias |
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| Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? |
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| Biochemical abnormalities in Pearson syndrome |
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| Benefits of genomic sequencing evident in pediatric diagnoses |
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| In this issue |
|
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| Identification of the fourth duplication of upstream <i>IHH</i> regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regul |
|
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| Copy number variations in children with brain malformations and refractory epilepsy |
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| Are Angelman and Prader‐Willi syndromes more similar than we thought? Food‐related behavior problems in Angelman, Cornelia de Lange, Fragile X, Prader‐Willi and 1p36 deletion syndromes |
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| Expanding the phenotype of Timothy syndrome type 2: An adolescent with ventricular fibrillation but normal development |
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| Apneas observed in trisomy 18 neonates should be differentiated from epileptic apneas |
|
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|
|
| American Journal of Medical Genetics Part A: Volume 167A, Number 3, March 2015 |
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|
|
| Table of Contents, Volume 167A, Number 03, March 2015 |
|
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|
|
| Novel <i>STAMBP</i> mutation and additional findings in an Arabic family |
|
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|
✓ |
✓ |
Arab family |
| A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate |
|
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| Duplication Xp11.22‐p14 in females: Does X‐inactivation help in assessing their significance? |
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| Hepatoblastoma in a patient with methylmalonic aciduria |
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| Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms |
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| Remembered: Elisabeth G. Kaveggia |
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| Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome |
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| Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in <i>SETBP1</i> and literature review of the clinical features |
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|
✓ |
✓ |
Brazilian |
| Hypoplastic left heart syndrome and 21q22.3 deletion |
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| Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a <i>FOXI3</i> deletion |
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| Analysis of <i>CHRNA7</i> rare variants in autism spectrum disorder susceptibility |
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| Phenotypic sub‐grouping in microtia using a statistical and a clinical approach |
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| Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome? |
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| Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies |
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| Craniosynostosis and risk factors related to thyroid dysfunction |
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| Table of Contents, Volume 167A, Number 02, February 2015 |
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| ADAM “sequence” part II: Hypothesis and speculation |
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| Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister‐Hall syndrome |
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| <i>CRTAP</i>mutation in a patient with Cole‐Carpenter syndrome |
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| A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype |
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| American Journal of Medical Genetics Part A: Volume 167A, Number 2, February 2015 |
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| Whole‐exome sequencing effective at diagnosing elusive genetic disorders |
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| FDA proposes tighter regulation over genetic lab tests |
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| In This Issue |
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| Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States |
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| Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> |
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| Whole arm deletions of 18p: Medical and developmental effects |
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| Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients |
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| Obstructive sleep apnea in young infants with Down Syndrome evaluated in a Down Syndrome specialty clinic |
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