Genetic counselling in facioscapulohumeral muscular dystrophy
about
Facioscapulohumeral distrophy and physiotherapy: a literary reviewEffect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trialDe novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHDLarge-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophyFacioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein.Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts.Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD)The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy.A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy.Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice.Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients.Respiratory involvement in inherited primary muscle conditions.Facioscapulohumeral dystrophy: case report and discussion.A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD).Prenatal diagnosis of congenital myopathies and muscular dystrophies.Fatigue in facioscapulohumeral muscular dystrophy: a qualitative study of people's experiences.Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation.Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q.Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.Clinical and genetic features of patients with facial-sparing facioscapulohumeral muscular dystrophy.Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population.Facioscapulohumeral Muscular Dystrophy.Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.Facioscapulohumeral dystrophy--an indication for internal fixation of clavicle fractures.
P2860
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P2860
Genetic counselling in facioscapulohumeral muscular dystrophy
description
1991 nî lūn-bûn
@nan
1991 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Genetic counselling in facioscapulohumeral muscular dystrophy
@ast
Genetic counselling in facioscapulohumeral muscular dystrophy
@en
type
label
Genetic counselling in facioscapulohumeral muscular dystrophy
@ast
Genetic counselling in facioscapulohumeral muscular dystrophy
@en
prefLabel
Genetic counselling in facioscapulohumeral muscular dystrophy
@ast
Genetic counselling in facioscapulohumeral muscular dystrophy
@en
P2860
P356
P1476
Genetic counselling in facioscapulohumeral muscular dystrophy
@en
P2093
P2860
P304
P356
10.1136/JMG.28.10.655
P407
P577
1991-10-01T00:00:00Z