Skip to search formSkip to main contentSkip to account menu

Facioscapulohumeral muscular dystrophy 1a

Known as: FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES, FSHMD1A, Facioscapulohumeral muscular dystrophy, infantile 
National Institutes of Health

Related topics

Related topics

6 relations
Autosomal dominant inheritanceExudative retinal detachmentFSHMD1A geneSensorineural Hearing Loss (disorder)

Broader (1)

Muscular Dystrophy, Facioscapulohumeral

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
FSHD1 and FSHD2 form a disease continuum
Objective To compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy… 
Review
2015
Review
2015
Genetic and epigenetic contributors to FSHD.
Highly Cited
2014
Highly Cited
2014
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers
Objective: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD… 
Highly Cited
2014
Highly Cited
2014
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin relaxation due to epigenetic changes at the 4q35… 
Highly Cited
2010
Highly Cited
2010
Clinical features of facioscapulohumeral muscular dystrophy 2
Objective: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome… 
Review
2008
Review
2008
Facioscapulohumeral muscular dystrophy
Highly Cited
2000
Highly Cited
2000
Water and solute movement in soil as influenced by macropore characteristics. 2. Macropore tortuosity
Highly Cited
1998
Highly Cited
1998
The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.
We investigated 52 families of patients with facioscapulohumeral muscular dystrophy (FSHD1), including 172 patients (104 males… 
Review
1997
Review
1997
Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)
Highly Cited
1996
Highly Cited
1996
Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the common inherited neuromuscular disorders. The major gene involved… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)