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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Phenotype
Academic Article Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Academic Article Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Academic Article "Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Academic Article Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
Academic Article Recurrent 16p11.2 microdeletions in autism.
Academic Article Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
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 The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Academic Article CDKL5 and ARX mutations in males with early-onset epilepsy.
Academic Article Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Academic Article New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
Academic Article Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Academic Article Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Academic Article Clinical and molecular diagnosis of Miller-Dieker syndrome.
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 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
Academic Article Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
Academic Article Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
Academic Article Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Academic Article Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
Academic Article LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Academic Article Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Academic Article Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Academic Article The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Academic Article Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Academic Article PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Academic Article Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
Academic Article X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
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 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 Rapid onset dystonia-parkinsonism in a 14-year-old girl.
Academic Article Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
Academic Article Periventricular nodular heterotopia with overlying polymicrogyria.
Academic Article Variable phenotype of rapid-onset dystonia-parkinsonism.
Academic Article Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
Academic Article Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
Academic Article FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Academic Article Miller-Dieker syndrome: lissencephaly and monosomy 17p.
Academic Article Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Academic Article Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Academic Article LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Academic Article New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
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 A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
Academic Article Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Academic Article Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Academic Article Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
Academic Article No major role for the EMX2 gene in schizencephaly.
Academic Article Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Academic Article The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
Academic Article Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
Academic Article A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
Academic Article Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
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 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Academic Article Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Academic Article Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Academic Article Lissencephaly and the molecular basis of neuronal migration.
Academic Article Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
Academic Article Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Academic Article Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
Academic Article Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Academic Article Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.
Academic Article MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Academic Article Childhood stroke and lupus anticoagulant.
Academic Article Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Academic Article Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Academic Article Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Academic Article Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
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 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 Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Academic Article Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.
Academic Article Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
Academic Article Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Academic Article Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Academic Article PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Academic Article GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Academic Article Lissencephaly: Expanded imaging and clinical classification.
Academic Article Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Academic Article Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
Academic Article The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia.
Academic Article Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Academic Article Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
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 An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.
Academic Article Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Academic Article SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Academic Article Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Academic Article Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Academic Article De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Academic Article De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Academic Article Duplication 2p16 is associated with perisylvian polymicrogyria.
Academic Article De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Academic Article Reply to Hsueh YP et al.
Academic Article Defining the phenotypical spectrum associated with variants in TUBB2A.
Academic Article Genotype-phenotype correlation at codon 1740 of SETD2.
Academic Article Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.
Academic Article A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Academic Article DLG4-related synaptopathy: a new rare brain disorder.
Academic Article ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
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 ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development.
Academic Article Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Academic Article Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Grant LISSENCEPHALY--MOLECULAR BASIS OF NEURONAL MIGRATION
Grant Megalencephaly and segmental brain overgrowth in humans
Academic Article Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.
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