Pages that link to "Q42071075"
The following pages link to Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. (Q42071075):
Displaying 15 items.
- Epigenetic characterization of the growth hormone gene identifies SmcHD1 as a regulator of autosomal gene clusters (Q33599586) (← links)
- Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene (Q33602618) (← links)
- Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing (Q34515410) (← links)
- Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy (Q35518696) (← links)
- Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report (Q36135207) (← links)
- Genetic and epigenetic contributors to FSHD. (Q36359473) (← links)
- CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy (Q36675292) (← links)
- Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1 (Q36695157) (← links)
- Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2. (Q36695869) (← links)
- The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States (Q37607062) (← links)
- Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy (Q38538325) (← links)
- Inferring the effect of genomic variation in the new era of genomics. (Q52327024) (← links)
- Facioscapulohumeral Muscular Dystrophy. (Q52506936) (← links)
- Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in in a Family With FSHD (Q59805168) (← links)
- SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain (Q93051454) (← links)