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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Cerebellum
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 Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
Academic Article Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Academic Article Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Academic Article Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.
Academic Article Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
Academic Article Clinical nosologic and genetic aspects of Joubert and related syndromes.
Academic Article Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Academic Article Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.
Academic Article Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Academic Article Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Academic Article AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Academic Article Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
Academic Article Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Academic Article Genotypically defined lissencephalies show distinct pathologies.
Academic Article Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
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 FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Academic Article Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Academic Article Cerebellar ataxia with progressive improvement.
Academic Article Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Academic Article Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Academic Article Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
Academic Article The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
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 The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
Academic Article Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
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 Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Academic Article Diagnostic criteria for Walker-Warburg syndrome.
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 Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
Academic Article Consensus Paper: Cerebellar Development.
Academic Article Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
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 Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
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 Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Academic Article Spatial and cell type transcriptional landscape of human cerebellar development.
Academic Article Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Academic Article Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Grant The genetic basis of Dandy-Walker and other mid-hindbrain malformations
Academic Article Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.
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