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Dobyns, William

One or more keywords matched the following items that are connected to Dobyns, William

Item Type	Name
Concept	Congenital Abnormalities
Concept	Congenital Hypothyroidism
Concept	Mullerian Ducts
Concept	Heart Defects, Congenital
Concept	Limb Deformities, Congenital
Concept	Congenital Disorders of Glycosylation
Concept	Hand Deformities, Congenital
Academic Article	Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan.
Academic Article	New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
Academic Article	Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
Academic Article	Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
Academic Article	Cortical dysplasias, genetics, and epileptogenesis.
Academic Article	Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Academic Article	Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
Academic Article	Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Academic Article	Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
Academic Article	A classification scheme for malformations of cortical development.
Academic Article	Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Academic Article	The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome.
Academic Article	Causal heterogeneity in isolated lissencephaly.
Academic Article	Congenital muscular dystrophies: clinical review and proposed classification.
Academic Article	Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
Academic Article	Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Academic Article	Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.
Academic Article	Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
Academic Article	Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
Academic Article	Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Academic Article	Genotypically defined lissencephalies show distinct pathologies.
Academic Article	Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
Academic Article	FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Academic Article	Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Academic Article	Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
Academic Article	Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Academic Article	Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
Academic Article	Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
Academic Article	Isolated lissencephaly: report of four patients from two unrelated families.
Academic Article	Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Academic Article	SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Academic Article	Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Academic Article	Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Academic Article	Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.
Academic Article	Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians.
Academic Article	Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86".
Academic Article	Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain.
Academic Article	SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Academic Article	Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Academic Article	Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Academic Article	Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).
Academic Article	Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.
Academic Article	Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Grant	Mosaic: post-zygotic mutations in vascular malformations

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Congenital
Mullerian
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