| Surviving with trisomy 13: Provider and parent perspectives and the role of the pediatric palliative care program |
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| Is cutis verticis Gyrata‐Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases |
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| Advocates call for long‐term extension of the FDA's rare pediatric disease priority review program |
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| Geneticists, health professionals suggest recasting requests to test children for adult‐onset diseases |
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| Table of Contents & Publication Schedule, Volume 173A, Number 1, January 2017 |
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| In this issue |
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| Cover Image, Volume 173A, Number 1, January 2017 |
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| Down syndrome in diverse populations |
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✓ |
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| Out‐of‐pocket medical costs and third‐party healthcare costs for children with Down syndrome |
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| Copy number variants in a population‐based investigation of Klippel–Trenaunay syndrome |
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| <i>CRTAP</i> variants in early‐onset osteoporosis and recurrent fractures |
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| Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies |
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| Standing on the shoulders of giants |
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| A novel recurrent <i>LIS1</i> splice site mutation in classic lissencephaly |
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| An elderly Jervell and Lange‐Nielsen patient heterozygous compound for two new <i>KCNQ1</i> mutations |
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| Acute myeloid leukemia in Baraitser–Winter cerebrofrontofacial syndrome |
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| Further evidence that variants in <i>PPP1CB</i> cause a rasopathy similar to Noonan syndrome with loose anagen hair |
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| Incomplete Timothy syndrome secondary to a mosaic mutation of the <i>CACNA1C</i> gene diagnosed using next‐generation sequencing |
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| High incidence of <i>BSCL2</i> intragenic recombinational mutation in Peruvian type 2 Berardinelli–Seip syndrome |
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✓ |
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Mestizo |
| Novel <i>EED</i> mutation in patient with Weaver syndrome |
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| Cover Image, Volume 170A, Number 12, December 2016 |
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| In this issue |
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| Need for greater racial, ethnic diversity in genetic research |
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| New Fragile X tests may improve research on the disorder |
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| Table of Contents, Volume 170A, Number 12, December 2016 |
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| Publication schedule for 2016 |
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| Variability in clinical and neuropsychological features of individuals with <i>MAP2K1</i> mutations |
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| Clinical and molecular diagnosis of a cartilage‐hair hypoplasia with IGF‐1 deficiency |
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| De novo microdeletions and point mutations affecting <i>SOX2</i> in three individuals with intellectual disability but without major eye malformations |
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| Maternally derived 15q11.2‐q13.1 duplication in a child with Lennox–Gastaut‐type epilepsy and dysmorphic features: Clinical‐genetic characterization of the family and review of the literature |
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| Characterization of pain, disability, and psychological burden in Marfan syndrome |
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| Homozygous <i>LIPE</i> mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy |
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✓ |
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Israeli–Arab pedigree |
| Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity |
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| Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1 |
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| Homozygous variants in <i>pyrroline‐5‐carboxylate reductase 2</i> (<i>PYCR2</i>) in patients with progressive microcephaly and hypomyelinating leukodystrophy |
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| A de novo missense mutation in the inositol 1,4,5‐triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of <i>ITPR1</i>‐related spinocerebellar at |
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| Novel findings of left ventricular non‐compaction cardiomyopathy, microform cleft lip and poor vision in patient with <i>SMC1A</i>‐associated Cornelia de Lange syndrome |
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| <i>KMT2D</i> p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection |
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| “<i>They Can't Find Anything Wrong with Him, Yet</i>”: Mothers’ experiences of parenting an infant with a prenatally diagnosed copy number variant (CNV) |
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| Hyperinsulinemic hypoglycemia in Beckwith–Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan |
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| Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in <i>COL1A1</i>: Report on a three‐generation family without cardiovascular events, and literature revie |
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| A case for cannabidiol in Wolf–Hirschhorn syndrome seizure management |
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| Acute myeloid leukemia‐associated <i>DNMT3A</i> p.Arg882His mutation in a patient with Tatton‐Brown–Rahman overgrowth syndrome as a constitutional mutation |
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| Six uneventful pregnancy outcomes in an extended vascular Ehlers–Danlos syndrome family |
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| Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum |
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| Sudden infant death “syndrome”—Insights and future directions from a Utah population database analysis |
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| Trisomy 18 and eye anomalies |
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| Much ado about something 2: Reflections on the state of the <i>American Journal of Medical Genetics</i> 2016 |
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| Review of familial cerebral cavernous malformations and report of seven additional families |
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| Camptodactyly and the 22q11.2 deletion syndrome |
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| Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families |
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| Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open‐label, phase 2 study |
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| Abdominal paraganglioma in a young woman with 1p36 deletion syndrome |
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| Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation |
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| Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients |
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| <i>SATB2</i>‐associated syndrome: Mechanisms, phenotype, and practical recommendations |
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| Smith–Kingsmore syndrome: A third family with the <i>MTOR</i> mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism |
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German family |
| A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for <i>MBNLI</i> |
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| Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families |
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| Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders |
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| Subclinical dysphagia in persons with Prader–Willi syndrome |
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| Distal limb anomalies in patients with congenital dyserythropoietic anemia |
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| Creation of an international registry to support discovery in schwannomatosis |
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| Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation |
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| Further delineation of the phenotype of truncating <i>KMT2A</i> mutations: The extended Wiedemann–Steiner syndrome |
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"two Chinese boys"; "ethnic background"; "Chinese" |
| Table of Contents, Volume 170A, Number 11, November 2016 |
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| <i>Annals of morphology</i> THEODOR BOVERI (1862–1915) To commemorate the centenary of his death and contributions to the Sutton–Boveri hypothesis |
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| Cover Image, Volume 170A, Number 11, November 2016 |
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| Testing cell‐free fetal DNA emerges as trisomy screen of choice |
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| A Chinese patient with Toriello–Carey syndrome and an interstitial deletion of 3q |
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Chinese |
| Publication schedule for 2016 |
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| Role of inherited variants in nonsyndromic heart defects confirmed |
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| Unusual skin manifestations in a patient with menkes disease |
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| In this issue |
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| TBCK‐related intellectual disability syndrome: Case study of two patients |
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| Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes |
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| Learning the importance of double diagnosis |
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| Middle ear abnormalities in Van Maldergem syndrome |
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| A Marfan syndrome‐like phenotype caused by a neocentromeric supernumerary ring chromosome 15 |
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| Correspondence to Hale et al. atypical phenotypes associated with pathogenic <i>CHD7</i> variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria |
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| The prevalence of amnion rupture sequence, limb body wall defects and body wall defects in Alberta 1980–2012 with a review of risk factors and familial cases |
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| Ehlers–Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in <i>FLNA</i> |
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Italian family |
| Critical congenital heart defects and abnormal levels of routinely collected first‐ and second‐trimester biomarkers |
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| Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue |
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| Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22 |
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| Phenotypic variability in patients with Fanconi anemia and biallelic <i>FANCF</i> mutations |
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| Familial Gordon syndrome associated with a <i>PIEZO2</i> mutation |
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| First report of congenital adrenal cysts and pheochromocytoma in a patient with mosaic genome‐wide paternal uniparental disomy |
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| Making extra teeth: Lessons from a <i>TRPS1</i> mutation |
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| Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report |
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| First evidence of Smith–Magenis syndrome in mother and daughter due to a novel RAI mutation |
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| Mutation analysis of <i>FGFR1‐3</i> in 11 Japanese patients with syndromic craniosynostoses |
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✓ |
✓ |
Japanese |
| Congenital diaphragmatic hernia in 22q11.2 deletion syndrome |
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| <i>SDHA</i> mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement |
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| A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population |
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✓ |
Hutterite descent / Hutterite individuals |
| Clinical and genetic aspects of KBG syndrome |
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| Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan |
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| New <i>SMARCA2</i> mutation in a patient with Nicolaides–Baraitser syndrome and myoclonic astatic epilepsy |
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| Identification of 11p14.1‐p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles |
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| Embryonic hypocellularity, blastogenetic malformations, and fetal growth restriction |
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| Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations |
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| Health‐related quality of life in children with Robin sequence |
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| Familial deletion of the<i>HOXA</i>gene cluster associated with Hand–Foot–Genital syndrome and phenotypic variability |
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| Importance of a specialty clinic for individuals with fragile X syndrome |
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| Table of Contents, Volume 170A, Number 10, October 2016 |
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| Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis |
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| Publication schedule for 2016 |
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| Renal angiomyolipoma in Birt–Hogg–Dube syndrome: A case study supporting overlap with tuberous sclerosis complex |
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| Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the <i>SF3B4</i> gene |
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| In this issue |
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| The U.S. FDA focuses on next‐generation sequencing |
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| Cover Image, Volume 170A, Number 10, October 2016 |
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| Opitz award‐winning paper details genetic cause of CODAS syndrome |
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| A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (<i>YARS</i>) gene |
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| A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype–phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature |
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| A novel mutation in <i>PIGW</i> causes glycosylphosphatidylinositol deficiency without hyperphosphatasia |
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| Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature |
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| Nance–Horan syndrome—The oral perspective on a rare disease |
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| Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability |
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| Growth charts for individuals with rhizomelic chondrodysplasia punctata |
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| Phenotype of 7q11.23 duplication: A family clinical series |
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| Gene variants as risk factors for gastroschisis |
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| The Bedside Dysmorphologist A Guide to Identifying and Assessing Congenital Malformations Second Edition |
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| Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing <i>FBN1</i>, and literature review |
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| Somatic‐gonadal mosaicism causing Sotos syndrome |
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| Genetic variation of <i>FOXE1</i> and risk for orofacial clefts in a California population |
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✓ |
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| Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel <i>MITF</i> gene mutations |
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| The importance of chilblains as a diagnostic clue for mild Aicardi–Goutières syndrome |
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| 11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome |
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| Evidence for troponin C (<i>TNNC1</i>) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy |
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| Vesicourethral reflux‐induced renal failure in a patient with ICF syndrome due to a novel <i>DNMT3B</i> mutation |
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| Detecting celiac disease in patients with Down syndrome |
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| Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit |
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| Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome |
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| Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate |
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✓ |
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| Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of <i>ANKRD11</i> |
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| Further evidence for <i>GRIN2B</i> mutation as the cause of severe epileptic encephalopathy |
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| Clinicians’ experiences with the fragile X clinical and research consortium |
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| The neuropsychological function of children with achondroplasia |
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| Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing |
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| Unusual X‐chromosome inactivation pattern in patients with Xp11.23‐p11.22 duplication: Report and review |
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| Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry |
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| Further defining the critical genes for the 4q21 microdeletion disorder |
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| Prenatal diagnosis of Simpson–Golabi–Behmel syndrome |
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| Neonatal progeriod syndrome associated with biallelic truncating variants in <i>POLR3A</i> |
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| A novel <i>IGF2/H19</i> domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family |
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| Phenotypic variability in patients with osteogenesis imperfecta caused by <i>BMP1</i> mutations |
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| Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma |
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| Chromosome 5q33 deletions associated with congenital heart defects |
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| Jacobsen syndrome, Braddock–Carey syndrome, and Beyond: Reflections on intellectual disability accompanied with thrombocytopenia |
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| Hypomorphic <i>MKS1</i> mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of <i>MKS1</i>‐related ciliopathies |
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✓ |
✓ |
Pakistani origin ("consanguineous family of Pakistani origin") |
| A novel familial autosomal dominant mutation in <i>ARID1B</i> causing neurodevelopmental delays, short stature, and dysmorphic features |
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| Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis |
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✓ |
✓ |
Mexican |
| Kabuki syndrome as a cause of non‐immune fetal hydrops/ascites |
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| Maternal hypertension and risk for hypospadias in offspring |
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| Exome sequencing‐based identification of mutations in non‐syndromic genes among individuals with apparently syndromic features |
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| Braddock–Carey syndrome: A 21q22 contiguous gene syndrome encompassing <i>RUNX1</i> |
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| Concomitant 11p15.4‐p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith–Wiedemann syndrome |
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| Somatic <i>AKT1</i> mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis |
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| Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C‐propeptide mutation in <i>COL1A1</i> associated with a severe presentation of osteogenesis |
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| Clinical findings in a patient with <i>FARS2</i> mutations and early‐infantile‐encephalopathy with epilepsy |
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| AUTS2 Syndrome in a 68‐year‐old female: Natural history and further delineation of the phenotype |
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| An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity |
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| Cognitive, adaptive, and behavioral features in Joubert syndrome |
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| Microcephaly‐capillary malformation syndrome: Brothers with a homozygous <i>STAMBP</i> mutation, uncovered by exome sequencing |
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✓ |
✓ |
Egyptian ancestry |
| Growth pattern in Kabuki syndrome with a <i>KMT2D</i> mutation |
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| Pseudo‐dominant inheritance of a novel double <i>GLA</i> mutation associated with Fabry disease mimicking familial episodic pain |
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| Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia |
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| Somatic mosaicism for a lethal <i>TRPV4</i> mutation results in non‐lethal metatropic dysplasia |
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| Functional abilities in children and adults with the CDKL5 disorder |
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| Dr. Edward Lammer: A man of great stature |
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| Joint laxity in homozygotes for severe <i>POU1F1</i> mutations |
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| Review of the recurrent 8q13.2q13.3 branchio‐oto‐renal related microdeletion, and report of an additional case with associated distal arthrogryposis |
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| Precision assessment of public attitudes toward genetic testing |
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| Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a <i>CLCN7</i> mutation |
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| Two cases with de novo 3q26.31 microdeletion suggest a role for <i>FNDC3B</i> in human craniofacial development |
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| GAUDEAMUS IGITUR…In gratitude to John Carey for his stewardship of the <i>American Journal of Medical Genetics</i> 2001–2016 |
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| Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations |
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| Tumor screening in Beckwith–Wiedemann syndrome—To screen or not to screen? |
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| Role of <i>CFTR</i> variants explored in developing cystic fibrosis symptoms |
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| Table of Contents, Volume 170A, Number 9, September 2016 |
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| Publication schedule for 2016 |
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| In this issue |
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| Higher plasma orexin a levels in children with Prader–Willi syndrome compared with healthy unrelated sibling controls |
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| Cover Image, Volume 170A, Number 9, September 2016 |
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| HIPAA complaint alleges myriad genetics withheld variant data from patients |
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| Hirschsprung disease as a yet undescribed phenotype in a patient with <i>ARID1B</i> mutation |
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| Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome |
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| Attitudes toward carrier screening and prenatal diagnosis for recessive hereditary deafness among the educated population in urban China |
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| Update on the Toriello–Carey syndrome |
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| Phenotypic evolution of UNC80 loss of function |
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| Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures |
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| <i>FGFR‐</i>associated craniosynostosis syndromes and gastrointestinal defects |
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| Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques |
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| <i>BRAT1</i>‐associated neurodegeneration: Intra‐familial phenotypic differences in siblings |
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| Remembering Edward J. Lammer, MD |
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| SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features |
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| Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic |
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| Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes |
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| Typical facial gestalt in X‐linked Kabuki syndrome |
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| 3D morphometry aids facial analysis of individuals with a childhood cancer |
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| Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures |
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| The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM‐PL): Report of two additional patients |
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| Syringomyelia in hereditary multiple exostosis |
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| Desbuquois dysplasia type II in a patient with a homozygous mutation in <i>XYLT1</i> and new unusual findings |
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| Status dystonicus in two patients with SOX2‐anophthalmia syndrome and nonsense mutations |
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| Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups |
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| <i>Annals of morphology fields and prepatterns</i>. Editorial Festschrift for John C. Carey, MD, MPH |
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| Nine year old boy with chromosome 1q23.3‐q25.1 deletion |
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| Gene therapy for severe combined immune deficiency poised for European approval |
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| Failure of ossification of the occipital bone in mandibuloacral dysplasia type B |
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| Cover Image, Volume 170A, Number 8, August 2016 |
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| Table of Contents, Volume 170A, Number 8, August 2016 |
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| Facial malformation atlas aims to aid diagnosis of genetic disorders in patients of non‐European descent |
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✓ |
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non‐European descent |
| 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort |
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| Atypical presentation of infantile‐onset farber disease with novel <i>ASAH1</i> mutations |
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| Biallelic mutations in <i>CYP26B1</i>: A differential diagnosis for Pfeiffer and Antley–Bixler syndromes |
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| In this issue |
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| Neonatal McCune–Albright syndrome with survival beyond two years |
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| 17q12 deletion and duplication syndrome in Denmark—A clinical cohort of 38 patients and review of the literature |
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| Publication schedule for 2016 |
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| “It wasn't a disaster or anything”: Parents’ experiences of their child's uncertain chromosomal microarray result |
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| Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final‐exon <i>SATB2</i> frameshift mutation |
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| Further evidence of <i>POP1</i> mutations as the cause of anauxetic dysplasia |
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| 8q21.11 microdeletion in two patients with syndromic peters anomaly |
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| Mandibular dysostosis without microphthalmia caused by <i>OTX2</i> deletion |
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| Phenotypic expansion of <i>TBX4</i> mutations to include acinar dysplasia of the lungs |
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| Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy |
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| Diagnosis of Van den Ende–Gupta syndrome: Approach to the Marden–Walker‐like spectrum of disorders |
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| Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell–Silver syndrome |
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| In memoriam: Dr. Andrew E. Czeizel (April 03, 1935–August 10, 2015) |
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| <i>SETD5</i> loss‐of‐function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression |
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| A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features |
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| A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver–Russell syndrome |
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| De novo frameshift mutation in <i>COUP‐TFII</i> (<i>NR2F2</i>) in human congenital diaphragmatic hernia |
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| Siblings with severe pyruvate kinase deficiency and a complex genotype |
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| Oro‐dental features of Pallister–Killian syndrome: Evaluation of 21 European probands |
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✓ |
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✓ |
✓ |
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European probands |
| Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for <i>TP63</i> mutation |
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| A novel homozygous <i>PAM16</i> mutation in a patient with a milder phenotype and longer survival |
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| Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study |
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| Spectrum of <i>SMPD1</i> mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease |
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✓ |
✓ |
Asian-Indian; Indian population |
| Expanding the genotypic spectrum of <i>CCBE1</i> mutations in Hennekam syndrome |
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| Analysis of peripheral amyloid precursor protein in Angelman Syndrome |
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| The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization |
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| In memoriam: Dr. Andrew Czeizel |
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| Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives |
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| Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by <i>STX16</i> deletion |
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| Two novel <i>EIF2S3</i> mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy |
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| Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in <i>KMT2A</i> |
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| Corneal clouding, cataract, and colobomas with a novel missense mutation in<i>B4GALT7</i>—a review of eye anomalies in the linkeropathy syndromes |
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| Publication schedule for 2016 |
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| A novel <i>MED12</i> mutation: Evidence for a fourth phenotype |
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| Cover Image, Volume 170A, Number 7, July 2016 |
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| <i>MED23</i>‐associated refractory epilepsy successfully treated with the ketogenic diet |
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| Prenatal diagnosis of Chudley–McCullough syndrome |
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| Trisomy 18: A survey of opinions, attitudes, and practices of neonatologists |
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✓ |
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| Elastins from patients with Williams–Beuren syndrome and healthy individuals differ on the molecular level |
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| Autism variants can influence behavior, communication traits in general population |
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| Online platform to embrace wide community of people affected by genetic diseases |
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| <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype |
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| Table of Contents, Volume 170A, Number 7, July 2016 |
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| In this issue |
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| Delayed diagnosis in a house of correction: Smith–Magenis syndrome due to a de novo nonsense <i>RAI1</i> variant |
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| Recognizable facial features in patients with alternating hemiplegia of childhood |
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| Gain‐of‐function mutations in <i>SMAD4</i> cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome |
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| A de novo microtriplication at 4q21.21‐q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech |
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| Genotype–phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review |
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| Temporal changes in chromosome abnormalities in human spontaneous abortions: Results of 40 years of analysis |
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| 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions |
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| Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in <i>IRF6</i> |
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| Deletion upstream of <i>SALL1</i> producing Townes–Brocks syndrome |
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| RIN2 syndrome: Expanding the clinical phenotype |
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✓ |
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| Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers–Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome |
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| Chronic intestinal pseudo‐obstruction in a child harboring a founder Hirschsprung RET mutation |
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✓ |
✓ |
Chinese; Asian; Asia |
| Urorectal septum malformation sequence—Fetal series with the description of a new “intermediate” variant. Time to refine the terminology? |
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| Quality of life in adolescents and adults with CHARGE syndrome |
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| Etiologies of uterine malformations |
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| Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C |
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| Is one diagnosis the whole story? patients with double diagnoses |
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| Deletion 2q37 syndrome: Cognitive‐behavioral trajectories and autistic features related to breakpoint and deletion size |
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| <i>BRAT1</i> mutations present with a spectrum of clinical severity |
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| <i>BRAT1</i> mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood |
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| Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a <i>COL1A2</i> cleavage site mutation |
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| Clinical features of <i>SMARCA2</i> duplication overlap with Coffin–Siris syndrome |
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| <i>SMARCE1</i>, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases |
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| A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair |
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| Achondroplasia: Really rhizomelic? |
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| Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease |
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| Establishing <i>SON</i> in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock–Carey syndrome phenotype |
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| Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing |
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| A new family with an <i>SLC9A6</i> mutation expanding the phenotypic spectrum of Christianson syndrome |
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| Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype |
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| Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability |
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| Molecular and phenotypic spectrum of <i>ASPM</i>‐related primary microcephaly: Identification of eight novel mutations |
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| Syndromes with supernumerary teeth |
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| Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements |
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| Biallelic <i>CACNA1A</i> mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy |
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| <i>CRIPT</i> exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities |
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| Physical measurements of Chinese children in Hong Kong—A pilot study in preschools and kindergartens |
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✓ |
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✓ |
✓ |
Chinese; ethnicity-specific; ethnic variability |
| Gonadal mosaicism for <i>ACTA1</i> gene masquerading as autosomal recessive nemaline myopathy |
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| Update on the <i>ACTG1</i>‐associated Baraitser–Winter cerebrofrontofacial syndrome |
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| Clinical and radiographic delineation of Bent Bone Dysplasia‐FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel‐shaped Phalanges |
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| Microcephalic primordial dwarfism in an Emirati patient with <i>PNKP</i> mutation |
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| Temporomandibular joint ankylosis as part of the clinical spectrum of Carey–Fineman–Ziter syndrome? |
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| Gastroschisis and maternal intake of phytoestrogens |
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| GM3 synthase deficiency due to <i>ST3GAL5</i> variants in two Korean female siblings: Masquerading as Rett syndrome‐like phenotype |
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| Protein‐losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation |
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| Higher plasma orexin A levels in children with Prader–Willi syndrome compared with healthy unrelated sibling controls |
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| Is the diagnostic yield influenced by the indication for fetal autopsy? |
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| Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overview |
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| The crucial role of <i>FBXO28</i> in the pathogenesis of the 1q41q42 microdeletion syndrome |
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| A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in<i>FIBP</i>gene |
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| Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic <i>PIK3CA</i> mutation |
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| Cover Image, Volume 170A, Number 6, June 2016 |
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| Phenotypic variability in patients with interstitial 6q21‐q22 microdeletion and Acro–Cardio–Facial syndrome |
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| Table of Contents, Volume 170A, Number 6, June 2016 |
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| Website aims to accelerate gene discovery, diagnosis, treatment |
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| In this issue |
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| Publication schedule for 2016 |
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| Whole‐exome sequencing strategy proposed as first‐line test |
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| Sojourner in a foreign land |
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| Response to: Papetti et al., “The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome” |
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| Ebstein anomaly, left ventricular non‐compaction, and early onset heart failure associated with a de novo α‐tropomyosin gene mutation |
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| Whole exome sequencing identifies the first <i>STRADA</i> point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) |
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✓ |
✓ |
Old Order Mennonite; Indian |
| Hartsfield syndrome associated with a novel heterozygous missense mutation in <i>FGFR1</i> and incorporating tumoral calcinosis |
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| The natural history of a clinical geneticist |
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| A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings |
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| The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway |
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| Emerging targeted drug therapies in skeletal dysplasias |
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| Trisomy 13 and gallbladder agenesis |
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| Objective studies of the face of Noonan, Cardio‐facio‐cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway |
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| Altered cerebrospinal fluid proteins in Smith–Lemli–Opitz syndrome patients |
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| In memory of Murray Feingold (1930–2015) |
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| Ehlers–Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice? |
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| An emerging, recognizable facial phenotype in association with mutations in GLI‐similar 3 (<i>GLIS3</i>) |
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✓ |
✓ |
consanguineous Saudi Arabian family |
| Adolescents’ preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood |
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| Rapid clinical deterioration in an individual with Down syndrome |
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| 14q13 distal microdeletion encompassing <i>NKX2‐1</i> and <i>PAX9</i>: Patient report and refinement of the associated phenotype |
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| First clinical report of an infant with microcephaly and <i>CASC5</i> mutations |
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| Further delineation of <i>FKBP14</i>‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review |
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| Homozygous single base deletion in <i>TUSC3</i> causes intellectual disability with developmental delay in an Omani family |
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| Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience |
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| Is 1p36 deletion associated with anterior body wall defects? |
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| Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome |
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| Homozygous <i>HOXB1</i> loss‐of‐function mutation in a large family with hereditary congenital facial paresis |
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| Death from supine asphyxia in late onset pompe disease: Two patients |
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| A novel de novo dominant negative mutation in <i>DNM1L</i> impairs mitochondrial fission and presents as childhood epileptic encephalopathy |
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| Exome sequencing identifies a de novo frameshift mutation in the imprinted gene <i>ZDBF2</i> in a sporadic patient with Nasopalpebral Lipoma‐coloboma syndrome |
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✓ |
✓ |
ethnically matched controls |
| A second family with CATSHL syndrome: Confirmatory report of another unique <i>FGFR3</i> syndrome |
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| “I'm Healthy, It's Not Going To Be Me”: Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia |
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| Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis |
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| <i>KCNK9</i> imprinting syndrome—further delineation of a possible treatable disorder |
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✓ |
✓ |
Arab–Israeli |
| Whole exome sequencing reveals de novo pathogenic variants in <i>KAT6A</i> as a cause of a neurodevelopmental disorder |
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| Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co‐occurrence of multiple events |
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| Frederik Ruysch (1638–1731): Historical perspective and contemporary analysis of his teratological legacy |
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| Pregnancy after aortic root replacement in Loeys–Dietz syndrome: High risk of aortic dissection |
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| Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype |
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| 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting |
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| Lack of mutation–histopathology correlation in a patient with Proteus syndrome |
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| Three cases of Troyer syndrome in two families of Filipino descent |
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✓ |
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"Old Amish population", "Filipino descent", "Filipino population", "Turkish and Omani families" |
| The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes |
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| Macrodactyly in tuberous sclerosis complex: Case report and review of the literature |
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| Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the liter |
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| A de novo 10p11.23‐p12.1 deletion recapitulates the phenotype observed in <i>WAC</i> mutations and strengthens the role of <i>WAC</i> in intellectual disability and behavior disorders |
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| Analysis of <i>TGFBR1*6A</i> variant in individuals evaluated for Marfan syndrome |
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| A splice site mutation in <i>HERC1</i> leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum |
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✓ |
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Indian origin |
| Maternal somatic mosaicism of <i>FOXF1</i> mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings |
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| Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples |
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| Respiratory system involvement in Costello syndrome |
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| Two cases of <i>RIT1</i> associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature |
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| Confirmation of <i>TENM3</i> involvement in autosomal recessive colobomatous microphthalmia |
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| The society for craniofacial genetics and developmental biology 38th annual meeting |
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| <i>COL1A1</i> and <i>COL1A2</i> sequencing results in cohort of patients undergoing evaluation for potential child abuse |
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| A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy |
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| Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation |
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| Table of Contents, Volume 170A, Number 5, May 2016 |
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| Monkey model of <i>MECP2</i> duplication syndrome aids autism research |
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| Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients |
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| Publication schedule for 2016 |
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| In this issue |
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| Cover Image, Volume 170A, Number 5, May 2016 |
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| Genetic discrimination lawsuit raises broader concerns about testing, privacy |
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| Novel splicing mutation in the <i>ASXL3</i> gene causing Bainbridge–Ropers syndrome |
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| Novel de novo mutations in <i>ZBTB20</i> in Primrose syndrome with congenital hypothyroidism |
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| Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts |
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| Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial |
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| Galton, David J. 2015.<i>Man of Science, Man of God</i><b>—Gregor Mendel</b>—Discovering the Gene—For his 150th anniversary. Great Britain, Timaeus Press, 227 pp. Paperback—Proofs received for review. |
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| Do patients with tuberous sclerosis complex have an increased risk for malignancies? |
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| <i>KCNQ1</i> mutations associated with Jervell and Lange–Nielsen syndrome and autosomal recessive Romano–Ward syndrome in India—expanding the spectrum of long QT syndrome type 1 |
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Indian; Asian Indian |
| Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders |
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| Nutritional aspects of Noonan syndrome and Noonan‐related disorders |
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| Acceptance and commitment therapy in youth with neurofibromatosis type 1 (NF1) and chronic pain and their parents: A pilot study of feasibility and preliminary efficacy |
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| Thinking of VACTERL‐H? Rule out Fanconi Anemia according to PHENOS |
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| Exome sequencing reveals a novel <i>CWF19L1</i> mutation associated with intellectual disability and cerebellar atrophy |
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✓ |
✓ |
Turkish; Dutch |
| <i>PCDH19</i>‐related epileptic encephalopathy in a male mosaic for a truncating variant |
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| James L. German, a pioneer in early human genetic research turned 90 |
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| Congenital limb deficiency classification and nomenclature: The need for a consensus |
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| Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in <i>ADNP</i> gene |
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| TP63 mutation in a patient with acro‐dermo‐ungual‐lacrimal‐tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes |
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| De novo exonic deletion of <i>KDM6A</i> in a Chinese girl with Kabuki syndrome: A case report and brief literature review |
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| Identification of a novel insertion mutation in <i>FGFR3</i> that causes thanatophoric dysplasia type 1 |
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| Apert and Crouzon syndromes—Cognitive development, brain abnormalities, and molecular aspects |
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| Trisomy 3 mosaicism in a 5‐year‐old boy with multiple anomalies: A very rare case |
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| Respiratory and gastrointestinal dysfunctions associated with auriculo‐condylar syndrome and a homozygous PLCB4 loss‐of‐function mutation |
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| Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation |
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| In this issue |
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| Cover Image, Volume 170A, Number 4, April 2016 |
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| Publication schedule for 2016 |
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| Precision medicine company takes aim at genetically based epilepsy |
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| Spectrum of gene variants linked to cystic fibrosis in nonwhites |
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✓ |
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nonwhites |
| Table of Contents, Volume 170A, Number 4, April 2016 |
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| Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel <i>NOG</i> mutation and without hearing loss |
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✓ |
✓ |
Danish |
| Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic <i>CHD7</i> variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria |
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| The management of pregnancy and delivery in 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency |
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| Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman–Sheldon Syndrome caused by a pathogenic <i>MYH3</i> mutation |
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| Oblique facial clefts in Johanson–Blizzard syndrome |
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| Histologically benign, clinically aggressive: Progressive non‐optic pathway pilocytic astrocytomas in adults with NF1 |
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| Postnatal microcephaly and pain insensitivity due to a de novo heterozygous <i>DNM1L</i> mutation causing impaired mitochondrial fission and function |
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| A novel <i>EDARADD</i> 5′‐splice site mutation resulting in activation of two alternate cryptic 5′‐splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia |
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| Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two <i>WISP3</i> mutations, one previously unreported |
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| Delineation of a recognizable phenotype for the recurrent LCR22‐C to D/E atypical 22q11.2 deletion |
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| <i>RASA1</i> somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome |
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| Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings |
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| Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13? |
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| Autosomal recessive <i>MFN2</i>‐related Charcot‐Marie‐Tooth disease with diaphragmatic weakness: Case report and literature review |
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✓ |
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| Hypertrophic neuropathy in Noonan syndrome with multiple lentigines |
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| Second Pallister‐Opitz Genetics Symposium, Helena, Montana, July 2015 |
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| Recurrence of stillbirth and second trimester pregnancy loss |
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| Further defining the phenotypic spectrum of<i>B4GALT7</i>mutations |
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| Debate surrounds state laws for down syndrome fact sheets |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 170A, Number 3, March 2016 |
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| De novo 14q24.2q24.3 microdeletion including <i>IFT43</i> is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia |
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| Publication schedule for 2016 |
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| Generating a taxonomy for genetic conditions relevant to reproductive planning |
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| Noninvasive prenatal testing can detect gene deletions, duplications |
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| ORPHAN—THE QUEST TO SAVE CHILDREN WITH RARE GENETIC DISORDERS. By Philip R.Reilly. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, 2015. |
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| Noninvasive prenatal testing spots duchenne muscular dystrophy |
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| Clinical audit of genetic testing and referral patterns for fragile X and associated conditions |
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| Table of Contents, Volume 170A, Number 3, March 2016 |
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| Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited |
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| Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports |
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| The rare Costello variant <i>HRAS</i> c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy |
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| Clairvoyance |
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| Tatton–Brown–Rahman syndrome due to 2p23 microdeletion |
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| Novel myopathy in a newborn with Shwachman–Diamond syndrome and review of neonatal presentation |
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| Prenatal detection of 5q14.3 duplication including <i>MEF2C</i> and brain phenotype |
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| Protein‐energy malnutrition is frequent and precocious in children with cri du chat syndrome |
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| Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification |
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| A new case of malonyl‐CoA decarboxylase deficiency with mild clinical features |
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| Duplication 2p25 in a child with clinical features of CHARGE syndrome |
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| Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing |
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| Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature |
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✓ |
✓ |
Hispanic |
| Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients |
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| Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome |
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| Enhancing genomic laboratory reports: A qualitative analysis of provider review |
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| <i>ADAT3</i>‐related intellectual disability: Further delineation of the phenotype |
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✓ |
✓ |
Saudi, Emirati, Arabia |
| Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature |
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| Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W <i>DEAF1</i> mutation |
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✓ |
✓ |
East Pakistani; Saudi Arabian |
| Novel 14q11.2 microduplication including the <i>CHD8</i> and <i>SUPT16H</i> genes associated with developmental delay |
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| Expanding the phenotypic profile of Kleefstra syndrome: A female with low‐average intelligence and childhood apraxia of speech |
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| Clinical and pathologic features of Aicardi–Goutières syndrome due to an <i>IFIH1</i> mutation: A pediatric case report |
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| Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement |
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| Metatropic dysplasia is associated with increased fracture risk |
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| <i>CLTC</i> as a clinically novel gene associated with multiple malformations and developmental delay |
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| Use of metaphors about exome and whole genome sequencing |
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| Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations |
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| 23andMe markets carrier screening service directly to consumers |
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| In this issue |
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| A distinct X‐linked syndrome involving joint contractures, keloids, large optic cup‐to‐disc ratio, and renal stones results from a filamin A (<i>FLNA</i>) mutation |
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| Table of Contents, Volume 170A, Number 2, February 2016 |
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| Publication schedule for 2016 |
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| Children with developmental delays rarely referred to geneticists |
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| American Journal of Medical Genetics Part A: Volume 170A, Number 2, Feburary 2016 |
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| Crisponi/CISS1 syndrome: A case series |
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| An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in <i>COL1A1</i> and biallelic missense variants in <i>TNXB</i> identified by whole exome |
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| Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing |
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| Novel <i>IFT122</i> mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum |
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| <i>TPM1</i> polymorphisms and nonsyndromic orofacial clefts susceptibility in a Chinese Han population |
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| Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome |
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| Gorlin syndrome with an ovarian leiomyoma associated with a <i>PTCH1</i> second hit |
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| A de novo frameshift mutation in chromodomain helicase DNA‐binding domain 8 (CHD8): A case report and literature review |
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| Stippled calcification in an infant with a recurrent <i>SRCAP</i> gene mutation |
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| A female newborn having mosaicism with near‐tetraploidy and trisomy 18 |
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| Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta |
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| Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome |
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| Trisomy 4 mosaicism: Delineation of the phenotype |
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| Postnatal outcomes of prenatally diagnosed 45,X/46,XX |
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| Exploring the genetic basis of 3MC syndrome: Findings in 12 further families |
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| The first de novo non‐mosaic 14q11.2q13.1 tetrasomy of paternal origin |
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| Evaluation of proton‐coupled folate transporter (<i>SLC46A1</i>) polymorphisms as risk factors for neural tube defects and oral clefts |
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Irish; Utah; Filipino |
| 5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of <i>RASA1</i> and <i>MEF2C</i>: A progressive disease |
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| Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature |
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| Auricular ossification: A newly recognized feature of osteoprotegerin‐deficiency juvenile Paget disease |
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| Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations |
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| <i>EZH2</i> mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis |
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| Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications |
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| Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co‐occurrence? |
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| Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome |
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| Novel copy number variants and major limb reduction malformation: Report of three cases |
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| Interstitial 6q25 microdeletion syndrome: <i>ARID1B</i> is the key gene |
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| Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability |
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| Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies |
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| Response: “Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy” and “is there a correlation between sleep disordered breathing and foramen magnum |
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| A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia |
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| Letter to the editor: Response to two recent articles regarding achondroplasia |
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| 12th International CHARGE syndrome conference proceedings |
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| Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype |
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| Lateral meningocele (Lehman) syndrome: A child with a novel <i>NOTCH3</i> mutation |
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| Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene |
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| Trisomy 18: A single‐center evaluation of management trends and experience with aggressive obstetric or neonatal intervention |
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| 9p13.1p13.3 interstitial deletion: A case report and further delineation of a rare condition |
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| Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome |
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| Long‐term treatment of neurofibromatosis 1 with ketotifen. A report of three cases |
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| Muenke syndrome: An international multicenter natural history study |
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| Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor |
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| Novel features of 3q29 deletion syndrome: Results from the 3q29 registry |
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| A novel <i>TUBB3</i> mutation in a sporadic patient with asymmetric cortical dysplasia |
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| Is a prenatal diagnosis detrimental to the survival of a fetus with trisomy 18? |
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| Decline of CSF orexin (hypocretin) levels in Prader–Willi syndrome |
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| Confirming the candidacy of<i>THOC6</i>in the etiology of intellectual disability |
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