Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
about
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1Upper girdle imaging in facioscapulohumeral muscular dystrophy.Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.PARP1 Differentially Interacts with Promoter region of DUX4 Gene in FSHD MyoblastsThe Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesCommon recessive limb girdle muscular dystrophies differential diagnosis: why and how?Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.Magnetic Resonance Imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials.Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.Whole-blood global DNA methylation is increased in amyotrophic lateral sclerosis independently of age of onset.Epigenetic Regulatory Mechanisms Induced by Resveratrol.Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
P2860
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P2860
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Patients with a phenotype cons ...... and epigenetic heterogeneity.
@ast
Patients with a phenotype cons ...... and epigenetic heterogeneity.
@en
type
label
Patients with a phenotype cons ...... and epigenetic heterogeneity.
@ast
Patients with a phenotype cons ...... and epigenetic heterogeneity.
@en
prefLabel
Patients with a phenotype cons ...... and epigenetic heterogeneity.
@ast
Patients with a phenotype cons ...... and epigenetic heterogeneity.
@en
P2093
P2860
P50
P1476
Patients with a phenotype cons ...... c and epigenetic heterogeneity
@en
P2093
Claude Desnuelle
Jessica C de Greef
Leonardo Salviati
Pascal Boileau
Richard J L F Lemmers
P2860
P356
10.1136/JMEDGENET-2011-100101
P407
P577
2011-10-07T00:00:00Z