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Dobyns, William

One or more keywords matched the following items that are connected to Dobyns, William

Item Type	Name
Concept	Dandy-Walker Syndrome
Concept	Walker-Warburg Syndrome
Academic Article	Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
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	AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Academic Article	Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Academic Article	Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Academic Article	Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Academic Article	ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Academic Article	Cobblestone lissencephaly with normal eyes and muscle.
Academic Article	FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Academic Article	Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article	Lissencephaly and other malformations of cortical development: 1995 update.
Academic Article	Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.
Academic Article	COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
Academic Article	A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
Academic Article	Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Academic Article	Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
Academic Article	Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Academic Article	Diagnostic criteria for Walker-Warburg syndrome.
Academic Article	Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Academic Article	Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Academic Article	Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly.
Academic Article	A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Academic Article	Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.
Academic Article	Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
Academic Article	Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.
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	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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