Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy-Reference-Cited by-同舟云学术

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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Published:2017-08-06 Issue:10 Volume:38 Page:1432-1441
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Nguyen Karine¹²^ORCID,Puppo Francesca¹,Roche Stéphane¹,Gaillard Marie-Cécile¹,Chaix Charlène²,Lagarde Arnaud¹,Pierret Marjorie³,Vovan Catherine²,Olschwang Sylviane¹²⁴,Salort-Campana Emmanuelle¹⁵,Attarian Shahram¹⁵,Bartoli Marc¹,Bernard Rafaëlle¹²,Magdinier Frédérique¹,Levy Nicolas¹²⁶

Affiliation:

1. Aix Marseille Université; INSERM GMGF UMR S_910; Marseille 13385 France

2. APHM; Département de Génétique Médicale; Hôpital d'enfants de la Timone; Marseille 13385 France

3. Genomic Vision; Bagneux 92220 France

4. Groupe Ramsay Générale de Santé; Hôpital Clairval; Marseille France

5. APHM; Centre de Référence des Maladies Neuromusculaires et de la SLA; Hôpital de la Timone; Marseille 13385 France

6. APHM; Centre de Ressources Biologiques; Hôpital de la Timone; Marseille 13385 France

Funder

FSH Society

Agence Nationale de la Recherche

AFM-Téléthon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization;Arnoult;PLoS Genetics,2010

2. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation;Bodega;BMC Biology,2009

3. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy;Broucqsault;Human Molecular Genetics,2013

4. Clinical features of facioscapulohumeral muscular dystrophy 2;Greef;Neurology,2010

5. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD;Greef;Human Mutation,2009

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1. French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD);Journal of Neurology;2024-07-02

2. The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India;European Journal of Human Genetics;2024-04-25

3. Métodos diagnósticos moleculares en enfermedades neuromusculares y neurodegenerativas de origen genético;Pediatría;2024-03-30

4. Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping;Frontiers in Neurology;2024-02-01

5. Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping;Neurology Genetics;2023-12

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