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Search Results to William B. Dobyns

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

Item TypeName
Concept Genetic Predisposition to Disease
Academic Article Recurrent 16p11.2 microdeletions in autism.
Academic Article Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Academic Article Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
Academic Article Association and mutation analyses of 16p11.2 autism candidate genes.
Academic Article Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan.
Academic Article Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Academic Article Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
Academic Article Genetic and biologic classification of infantile spasms.
Academic Article Primary microcephaly: new approaches for an old disorder.
Academic Article Identification of genomic loci contributing to agenesis of the corpus callosum.
Academic Article Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
Academic Article A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
Academic Article A developmental and genetic classification for malformations of cortical development.
Academic Article Cerebellar ataxia with progressive improvement.
Academic Article Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
Academic Article Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Academic Article The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
Academic Article Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Academic Article Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Academic Article PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Academic Article Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Academic Article Progress in autism and related disorders of brain development.
Academic Article Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Academic Article Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
Academic Article Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Academic Article Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Academic Article De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Academic Article The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia.
Academic Article PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.
Academic Article Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Academic Article Duplication 2p16 is associated with perisylvian polymicrogyria.

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  • Genetic Predisposition to Disease