Molecular analysis of 4q35 rearrangements in facioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease-Reference-Cited by-同舟云学术

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

Published:1999-05 Issue:3 Volume:9 Page:190-198
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Galluzzi G,Deidda G,Cacurri S,Colantoni L,Piazzo N,Vigneti E,Ricci E,Servidei S,Merico B,Pachı̀ A,Brambati B,Mangiola F,Tonali P,Felicetti L

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference31 articles.

1. Genetic counseling in facioscapulohumeral muscular dystrophy;Lunt;J Med Genet,1991

2. Diagnostic criteria for facioscapulohumeral muscular dystrophy;Padberg;Neuromusc Disord,1991

3. Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimizing ascertainment bias;Lunt;J Med Genet,1989

4. Padberg GW, Brouwer OF, De Keizer RJW, et al. On the significance of retinal vascular-disease and hearing-loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 1995;Suppl 2:S73–S80.

5. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4;Wijmenga;Lancet,1990

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Prenatal diagnosis of congenital myopathies and muscular dystrophies;Clinical Genetics;2016-06-02

2. Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study;Orphanet Journal of Rare Diseases;2015

3. Diagnostic clinique et moléculaire de la myopathie facioscapulo-humérale de type 1 (FSHD1) en 2012;Revue Neurologique;2013-08

4. Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy;Clinical Neurology and Neurosurgery;2012-04

5. Muskeldystrophien;Pathologie;2012