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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Nervous System Malformations
Academic Article
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Academic Article
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
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
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Academic Article
Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome.
Academic Article
A developmental classification of malformations of the brainstem.
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 developmental and genetic classification for malformations of cortical development.
Academic Article
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
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
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
Academic Article
Classification system for malformations of cortical development: update 2001.
Academic Article
A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Academic Article
Malformations of cortical development and epilepsy.
Academic Article
Lissencephaly and the molecular basis of neuronal migration.
Academic Article
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Academic Article
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
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
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
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.
Search Criteria
Nervous System Malformations