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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Central Nervous System
Concept Facial Nerve
Concept Nerve Tissue Proteins
Concept Nervous System Diseases
Concept Optic Nerve
Concept Peripheral Nervous System Diseases
Concept Nerve Net
Concept Central Nervous System Neoplasms
Concept Nervous System Malformations
Concept Nerve Degeneration
Concept Central Nervous System Cysts
Concept Peripheral Nerves
Concept Central Nervous System Vascular Malformations
Academic Article Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Academic Article Genetic links between brain development and brain evolution.
Academic Article The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Academic Article Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
Academic Article Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Academic Article The molecular landscape of ASPM mutations in primary microcephaly.
Academic Article Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
Academic Article Interneuron deficits in patients with the Miller-Dieker syndrome.
Academic Article Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Academic Article LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Academic Article Idiopathic intracranial hypertension and facial diplegia.
Academic Article WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Academic Article De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Academic Article Clinical manifestations and evaluation of isolated lissencephaly.
Academic Article Familial cavernous malformations of the central nervous system and retina.
Academic Article Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Academic Article Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Academic Article Absence makes the search grow longer.
Academic Article Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome.
Academic Article A developmental classification of malformations of the brainstem.
Academic Article Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
Academic Article Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Academic Article Congenital muscular dystrophies: clinical review and proposed classification.
Academic Article Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
Academic Article Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.
Academic Article Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Academic Article Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
Academic Article Radiologic classification of malformations of cortical development.
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 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 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Academic Article Polymicrogyria and motor neuropathy in Micro syndrome.
Academic Article Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Academic Article Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
Academic Article A developmental and genetic classification for midbrain-hindbrain malformations.
Academic Article Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.
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 Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
Academic Article Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
Academic Article Classification system for malformations of cortical development: update 2001.
Academic Article Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Academic Article Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Academic Article Malformations of cortical development and epilepsy.
Academic Article Epilepsy and outcome in FOXG1-related disorders.
Academic Article Lissencephaly and the molecular basis of neuronal migration.
Academic Article Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Academic Article Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Academic Article MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
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 Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Academic Article Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
Academic Article Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Academic Article Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
Academic Article Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Academic Article Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Academic Article Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians.
Academic Article MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Academic Article De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Academic Article Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Academic Article Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Academic Article Biallelic loss of human CTNNA2, encoding aN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Academic Article An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.
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 Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.
Academic Article MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
Academic Article Defining the phenotypical spectrum associated with variants in TUBB2A.
Academic Article Genotype-phenotype correlation at codon 1740 of SETD2.
Academic Article Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Academic Article Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Academic Article Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.
Academic Article Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.
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