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Article

Spectrum of Mutations in Biopsy-Proven CADASIL

1 Jul 2005

Abstract excerpt

BACKGROUND: Mutations in the NOTCH3 gene are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is an important cause of stroke in young adults. Mutations are typically located within epidermal growth factor-like repeat domains in the extracellular part of the Notch3 receptor. Identification of the mutation is critical for genetic counseling...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 16009764
DOI: 10.1001/archneur.62.7.1091

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Related research

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Research trail→

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Spectrum of Mutations in Biopsy-Proven CADASILPMID 16009764Read ↗

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.Semantic proximity Read ↗

Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.Semantic proximity Read ↗

Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.Semantic proximity Read ↗

The spectrum of Notch3 mutations in 28 Italian CADASIL familiesSemantic proximity Read ↗

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.Semantic proximity Read ↗

Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.Semantic proximity Read ↗

Diagnostic strategies in CADASILSemantic proximity Read ↗

A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene.Semantic proximity Read ↗

First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family.Semantic proximity Read ↗

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients.Semantic proximity Read ↗

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.Semantic proximity Read ↗

The spectrum of mutations for CADASIL diagnosis.Semantic proximity Read ↗

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