Connection | Profiles RNS

Search Result Details

Back to Search Results

This page shows the details of why an item matched the keywords from your search.

Search Results

Dobyns, William

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

Item Type	Name
Concept	Brain Diseases
Academic Article	Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Academic Article	Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Academic Article	Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
Academic Article	POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
Academic Article	Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
Academic Article	Developmental aspects of lissencephaly and the lissencephaly syndromes.
Academic Article	Clinical spectrum of Wilson's disease (hepatolenticular degeneration).
Academic Article	Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Academic Article	Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Academic Article	Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
Academic Article	Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
Academic Article	Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
Academic Article	Absence makes the search grow longer.
Academic Article	Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.
Academic Article	Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Academic Article	14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
Academic Article	Genotypically defined lissencephalies show distinct pathologies.
Academic Article	Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article	Brain anomalies in encephalocraniocutaneous lipomatosis.
Academic Article	LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Academic Article	Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
Academic Article	AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Academic Article	Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Academic Article	Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
Academic Article	Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Academic Article	Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.
Academic Article	The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.
Academic Article	Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
Academic Article	Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Academic Article	Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Academic Article	Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.
Academic Article	Lissencephaly and the molecular basis of neuronal migration.
Academic Article	Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Academic Article	Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
Academic Article	X-linked malformations of cortical development.
Academic Article	Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Academic Article	Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91)
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	GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Academic Article	Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Academic Article	Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Academic Article	Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Academic Article	Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.
Academic Article	The spectrum of brain malformations and disruptions in twins.
Academic Article	DLG4-related synaptopathy: a new rare brain disorder.
Academic Article	ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Search Criteria

Brain Diseases