High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families
about
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathyHow the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy.Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophyExpression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patternsDe novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.Statistical evaluation of age-at-onset anticipation: a new test and evaluation of its behavior in realistic applications.FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with diseaseFacioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Elderly onset of weakness in facioscapulohumeral muscular dystrophy.Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophyA large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere.A novel molecular mechanism in human genetic disease: a DNA repeat-derived lncRNA.
P2860
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P2860
High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
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1995年论文
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name
High proportion of new mutatio ...... al muscular dystrophy families
@ast
High proportion of new mutatio ...... al muscular dystrophy families
@en
type
label
High proportion of new mutatio ...... al muscular dystrophy families
@ast
High proportion of new mutatio ...... al muscular dystrophy families
@en
prefLabel
High proportion of new mutatio ...... al muscular dystrophy families
@ast
High proportion of new mutatio ...... al muscular dystrophy families
@en
P2093
P2860
P1476
High proportion of new mutatio ...... al muscular dystrophy families
@en
P2093
Campiotto S
Cerqueira A
Passos-Bueno MR
Wijmenga C
P2860
P304
P407
P50
P577
1995-01-01T00:00:00Z