Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium.
about
Facioscapulohumeral dystrophy: the path to consensus on pathophysiologyEvidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD)The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.Decreased proliferation kinetics of mouse myoblasts overexpressing FRG1.Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.miRNA expression in control and FSHD fetal human muscle biopsiesA radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD).Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD)Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD)FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy familiesRippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromesLarge family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy.
P2860
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P2860
Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium.
description
1992 nî lūn-bûn
@nan
1992 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Regional mapping of facioscapu ...... f an international consortium.
@ast
Regional mapping of facioscapu ...... f an international consortium.
@en
type
label
Regional mapping of facioscapu ...... f an international consortium.
@ast
Regional mapping of facioscapu ...... f an international consortium.
@en
prefLabel
Regional mapping of facioscapu ...... f an international consortium.
@ast
Regional mapping of facioscapu ...... f an international consortium.
@en
P2093
P1476
Regional mapping of facioscapu ...... f an international consortium.
@en
P2093
Pericak-Vance M
Sarfarazi M
Upadhyaya M
Weiffenbach B
Wijmenga C
P304
P407
P577
1992-08-01T00:00:00Z