Item Type | Name |
Concept
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Cerebellum
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Academic Article
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New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
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Academic Article
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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
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Academic Article
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Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
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Academic Article
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Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
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Academic Article
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Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
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Academic Article
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Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.
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Academic Article
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Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
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Academic Article
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Clinical nosologic and genetic aspects of Joubert and related syndromes.
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Academic Article
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
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Academic Article
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Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.
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Academic Article
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Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
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Academic Article
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Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
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Academic Article
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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
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Academic Article
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Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
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Academic Article
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
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Academic Article
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Genotypically defined lissencephalies show distinct pathologies.
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Academic Article
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Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
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Academic Article
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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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Academic Article
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FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
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Academic Article
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Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
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Academic Article
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Cerebellar ataxia with progressive improvement.
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Academic Article
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Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
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Academic Article
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Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
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Academic Article
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Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
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Academic Article
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The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
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Academic Article
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Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
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Academic Article
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Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
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Academic Article
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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
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Academic Article
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The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
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Academic Article
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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
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Academic Article
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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.
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Academic Article
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Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
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Academic Article
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Diagnostic criteria for Walker-Warburg syndrome.
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Academic Article
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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
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Academic Article
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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
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Academic Article
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Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
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Academic Article
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Consensus Paper: Cerebellar Development.
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Academic Article
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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
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Academic Article
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
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Academic Article
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
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Academic Article
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Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
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Academic Article
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
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Academic Article
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Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.
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Academic Article
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
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Academic Article
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
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Academic Article
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Spatial and cell type transcriptional landscape of human cerebellar development.
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Academic Article
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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
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Academic Article
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Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
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Grant
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The genetic basis of Dandy-Walker and other mid-hindbrain malformations
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Academic Article
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Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.
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