Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Clinical genetics - 1 Feb 1999

Köhler J, Röhrig D, Bathke K D, Koch M C

Abstract excerpt

Probe p13E-11 (locus D4F104S1) detects two highly homologous polymorphic loci on chromosomes 4q35 and 10q26. Previous reports in the literature have described a correlation of shortened 4q35-specific fragments and facioscapulohumeral muscular dystrophy (FSHD1). We have identified 30 FSHDI families (46 patients) carrying one short 4q35 and one short 10q26 fragment. The clinical data of these patients were compared...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 10
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Microfilament Proteins

Share to Muscular Dystrophies

Share to Nuclear Proteins

Share to Pedigree

Share to Proteins

Share to RNA-Binding Proteins

Source

Identifiers

PMID: 10189085
DOI: 10.1034/j.1399-0004.1999.550204.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments.PMID 10189085Read ↗

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

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.Semantic proximity Read ↗

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

[Facioscapulohumeral muscular dystrophy (FSHD)].Semantic 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 ↗

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

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

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

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.