Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing
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Title
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing
Authors
Keywords
Bisulfite sequencing, DNA methylation, D4Z4, Disease diagnostics, DUX4, Epigenetics, Facioscapulohumeral muscular dystrophy, FSHD1, FSHD2
Journal
Clinical Epigenetics
Volume 6, Issue 1, Pages 23
Publisher
Springer Nature
Online
2014-10-29
DOI
10.1186/1868-7083-6-23
References
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Related references
Note: Only part of the references are listed.- Correlation of DNA methylation levels in blood and saliva DNA in young girls of the LEGACY Girls study
- (2014) Hui-Chen Wu et al. Epigenetics
- Myogenic Enhancers Regulate Expression of the Facioscapulohumeral Muscular Dystrophy-Associated DUX4 Gene
- (2014) C. L. Himeda et al. MOLECULAR AND CELLULAR BIOLOGY
- Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers
- (2014) M.-C. Gaillard et al. NEUROLOGY
- Population-based incidence and prevalence of facioscapulohumeral dystrophy
- (2014) J. C. W. Deenen et al. NEUROLOGY
- D4Z4as a prototype of CTCF and lamins-dependent insulator in human cells
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- Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions
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- Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
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- A focal domain of extreme demethylation within D4Z4 in FSHD2
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- Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment
- (2013) Tai-Heng Chen et al. NEUROMUSCULAR DISORDERS
- Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2
- (2013) Satomi Mitsuhashi et al. NEUROMUSCULAR DISORDERS
- Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
- (2012) Takako Iida Jones et al. HUMAN MOLECULAR GENETICS
- Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
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- Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy
- (2011) Karine Nguyen et al. ANNALS OF NEUROLOGY
- A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function
- (2011) Sachiko Homma et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution
- (2010) Richard J.L.F. Lemmers et al. AMERICAN JOURNAL OF HUMAN GENETICS
- BISMA - Fast and accurate bisulfite sequencing data analysis of individual clones from unique and repetitive sequences
- (2010) Christian Rohde et al. BMC BIOINFORMATICS
- Clinical features of facioscapulohumeral muscular dystrophy 2
- (2010) J. C. de Greef et al. NEUROLOGY
- A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
- (2010) R. J. L. F. Lemmers et al. SCIENCE
- Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
- (2009) Jessica C. de Greef et al. HUMAN MUTATION
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