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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Antigens, Neoplasm
Concept Microtubule-Associated Proteins
Concept Genetic Association Studies
Concept E1A-Associated p300 Protein
Concept Genome-Wide Association Study
Academic Article Genetic and neuroradiological heterogeneity of double cortex syndrome.
Academic Article Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Academic Article Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Academic Article Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Academic Article Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article Association and mutation analyses of 16p11.2 autism candidate genes.
Academic Article Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
Academic Article A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
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 Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Academic Article The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Academic Article Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
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 Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Academic Article Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.
Academic Article Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
Academic Article Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Academic Article LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Academic Article PRKDC mutations in a SCID patient with profound neurological abnormalities.
Academic Article WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Academic Article Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
Academic Article Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
Academic Article PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Academic Article Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
Academic Article Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Academic Article Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
Academic Article Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Academic Article Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Academic Article Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
Academic Article The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Academic Article Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Academic Article Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
Academic Article Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
Academic Article Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
Academic Article Expanding CEP290 mutational spectrum in ciliopathies.
Academic Article Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Academic Article Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Academic Article 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
Academic Article Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.
Academic Article Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
Academic Article Genotypically defined lissencephalies show distinct pathologies.
Academic Article Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Academic Article A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Academic Article Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Academic Article Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Academic Article Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Academic Article Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Academic Article LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Academic Article Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.
Academic Article Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Academic Article Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Academic Article Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Academic Article Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Academic Article A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
Academic Article Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
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 LIS1: from cortical malformation to essential protein of cellular dynamics.
Academic Article Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
Academic Article Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Academic Article Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
Academic Article Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
Academic Article High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
Academic Article Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
Academic Article Lissencephaly and the molecular basis of neuronal migration.
Academic Article Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
Academic Article TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Academic Article SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Academic Article Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Academic Article A novel SIX3 mutation segregates with holoprosencephaly in a large family.
Academic Article Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
Academic Article Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Academic Article Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Academic Article Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
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 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 Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
Academic Article Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Academic Article Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
Academic Article Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.
Academic Article Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.
Academic Article PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Academic Article Lissencephaly: Expanded imaging and clinical classification.
Academic Article Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
Academic Article NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Academic Article Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Academic Article De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Academic Article Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Academic Article Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Academic Article Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Academic Article Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Academic Article Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Academic Article Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Academic Article De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Academic Article Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Academic Article De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Academic Article Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.
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 Defining the phenotypical spectrum associated with variants in TUBB2A.
Academic Article Genotype-phenotype correlation at codon 1740 of SETD2.
Academic Article Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Academic Article Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Academic Article ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Academic Article Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia.
Academic Article Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Academic Article Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Academic Article Expanding the KIF4A-associated phenotype.
Academic Article A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology.
Academic Article Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.
Academic Article NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Academic Article NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Academic Article Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Academic Article ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Academic Article Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Grant Megalencephaly and segmental brain overgrowth in humans
Grant The genetic basis of Dandy-Walker and other mid-hindbrain malformations
Academic Article Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Academic Article Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.
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