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

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

Human mutation - 1 Oct 2017

Nguyen Karine, Puppo Francesca, Roche Stéphane, Gaillard Marie-Cécile, Chaix Charlène, Lagarde Arnaud, Pierret Marjorie, Vovan Catherine, Olschwang Sylviane, Salort-Campana Emmanuelle, Attarian Shahram, Bartoli Marc, Bernard Rafaëlle, Magdinier Frédérique, Levy Nicolas

Abstract excerpt

Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As molecular diagnosis relying on Southern blot (SB) might be challenging in some cases, molecular combing (MC) was recently developed as an additional technique for FSHD diagnosis and exploration of the genomic organization...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomal Proteins, Non-Histone
Share to Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 10

Share to Chromosomes, Human, Pair 4

Share to DNA Methylation

Share to High-Throughput Nucleotide Sequencing

Share to Muscular Dystrophy, Facioscapulohumeral

Share to Pathology, Molecular

Source

Identifiers

PMID: 28744936
DOI: 10.1002/humu.23304

Genes

SMCHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.PMID 28744936Read ↗

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophySemantic proximity Read ↗

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.Semantic proximity Read ↗

Complex 4q35 and 10q26 RearrangementsSemantic proximity Read ↗

Comparison of long-read sequencing strategies for resolving complex genotypes at Facioscapulohumeral dystrophy-associated lociSemantic proximity Read ↗

Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral DystrophySemantic proximity Read ↗

[Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012].Semantic proximity Read ↗

Facioscapulohumeral Muscular Dystrophy: More Complex than it AppearsSemantic proximity Read ↗

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.Semantic proximity Read ↗

A human pan-genomic analysis reconfigures the genetic and epigenetic make up of facioscapulohumeral muscular dystrophySemantic proximity Read ↗

Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.Semantic proximity Read ↗

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophySemantic proximity Read ↗

Facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

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