Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
|
19001018 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
|
19937601 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.
|
19530190 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC).
|
19937601 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.
|
19230662 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 78 BMD and X-linked dilated cardiomyopathy patients with common deletion mutations predicted to alter the dystrophin protein and correlated their mutations to cardiomyopathy age of onset.
|
20031633 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
|
19602481 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
|
19367636 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
|
19783145 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
|
19937601 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
|
19835634 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.
|
19206170 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.
|
19074751 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
|
19793655 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Exon skipping-mediated dystrophin reading frame restoration for small mutations.
|
19760747 |
2009 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin localizes at the X chromosome, whose mutations might result in Duchenne muscular dystrophy, Becker muscular dystrophy and X-linked dilated cardiomyopathy.
|
18562127 |
2008 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.
|
18652600 |
2008 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Small mutations of the DMD gene in Taiwanese families.
|
18583217 |
2008 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.
|
17726484 |
2008 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
|
17854090 |
2008 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
|
17259292 |
2007 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
|
17952667 |
2007 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a decade later in one of the original two families.
|
17899313 |
2007 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[Detection of new mutations in the dystrophin gene by denaturing high-performance liquid chromatography].
|
17880784 |
2007 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
|
17435279 |
2007 |