|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online.
|
10094565 |
1999 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.
|
10196701 |
1999 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Characterization of two nonsense mutations in the human dystrophin gene.
|
10320864 |
1998 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked dilated cardiomyopathy and the dystrophin gene.
|
10407857 |
1999 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dystrophin point mutation screening using a multiplexed protein truncation test.
|
10464635 |
1997 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
|
10533061 |
1999 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy.
|
10832829 |
2000 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
|
10909857 |
2000 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.
|
11039581 |
2000 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation.
|
11257468 |
2001 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Despite promoter tissue specificity, up-regulation of the brain and Purkinje cell type dystrophin isoforms was described in skeletal muscle of X-linked dilated cardiomyopathy (XLDCM) and BMD affected individuals.
|
11412872 |
2001 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations.
|
11524473 |
2001 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
|
11710958 |
2001 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy.
|
11726549 |
2001 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[Dystrophin gene analysis on 76 families with dystrophinopathy].
|
12233050 |
2002 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy.
|
12354438 |
2002 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
This is the first comprehensive scanning of the dystrophin gene in XLCM.
|
12354438 |
2002 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.
|
12359139 |
2003 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene.
|
12398835 |
2002 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophy (DMD and BMD), as well as X-linked dilated cardiomyopathy.
|
12632325 |
2003 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Rapid direct sequence analysis of the dystrophin gene.
|
12632325 |
2003 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.
|
12754707 |
2003 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We characterised a dystrophin gene rearrangement in a previously described family with X-linked dilated cardiomyopathy and we demonstrated that it represents an 11 kb deletion occurring within intron 11.
|
12853135 |
2003 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.
|
14659407 |
2004 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
|
14695533 |
2004 |