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Article

The FSHD-linked locus D4F104S1 (p13E-11) ON 4q35 has a homologue on 10qter

1 Jan 1995

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) has recently been shown to be associated with deletions that are detectable using probe p13E-11 (D4F104S1). Although these deletions reside within large, highly polymorphic restriction fragments (20-300 kb), the "mutant" fragment is usually shorter than 28 kb and can routinely be detected using conventional agarose gel electrophoresis. Yet, the complete visualization...

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PMID: 23573585
DOI: 10.1002/mus.880181309

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Research trail→

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The FSHD-linked locus D4F104S1 (p13E-11) ON 4q35 has a homologue on 10qterPMID 23573585Read ↗

Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments.Semantic proximity Read ↗

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).Semantic proximity Read ↗

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1Semantic proximity Read ↗

Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease.Semantic proximity Read ↗

Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.Semantic proximity Read ↗

D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.Semantic proximity Read ↗

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.Semantic proximity Read ↗

[Facioscapulohumeral muscular dystrophy (FSHD)].Semantic proximity Read ↗

Improved characterization of FSHD mutations.Semantic proximity Read ↗

Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.Semantic proximity Read ↗

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.Semantic proximity Read ↗

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.Semantic proximity Read ↗

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