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Dobyns, William

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

Item Type	Name
Concept	Genetic Association Studies
Academic Article	Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article	Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article	The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article	Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
Academic Article	PRKDC mutations in a SCID patient with profound neurological abnormalities.
Academic Article	PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Academic Article	Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Academic Article	Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Academic Article	Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Academic Article	Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Academic Article	Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article	TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Academic Article	Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Academic Article	A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Academic Article	Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Academic Article	Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
Academic Article	PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Academic Article	Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Academic Article	Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Academic Article	Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Academic Article	Duplication 2p16 is associated with perisylvian polymicrogyria.
Academic Article	Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Academic Article	Genotype-phenotype correlation at codon 1740 of SETD2.
Academic Article	Expanding the KIF4A-associated phenotype.
Academic Article	Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.
Grant	ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders

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Genetic Association Studies