Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia.
|
29901616 |
2018 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.
|
29581631 |
2017 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China.
|
28318817 |
2017 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Do we need 3D tube current modulation information for accurate organ dosimetry in chest CT? Protocols dose comparisons.
|
28526893 |
2017 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.
|
28100912 |
2017 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
|
27750387 |
2017 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
|
27593222 |
2017 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
|
28859693 |
2017 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A case report with the peculiar concomitance of 2 different genetic syndromes.
|
27930565 |
2016 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.
|
25900853 |
2016 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.
|
27515321 |
2016 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.
|
27425820 |
2016 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[Mutation screening of 433 families with Duchenne/Becker muscular dystrophy].
|
27122458 |
2016 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[c.2381-3T>C mutation of DMD gene: a rare SNP without significant pathogenicity].
|
25636106 |
2015 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe a previously healthy 16-year-old boy who presented with palpitations progressing to heart failure who was ultimately found to have a novel duplication of exons 13-16 in the dystrophin gene resulting in diagnosis of X-linked dilated cardiomyopathy.
|
26294044 |
2015 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
|
25972034 |
2015 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
|
25612904 |
2015 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study.
|
23756440 |
2014 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Consistently, XLDCM patients have decreased levels of dystrophin in cardiac muscle.
|
25340340 |
2014 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dystrophin levels and clinical severity in Becker muscular dystrophy patients.
|
24292997 |
2014 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Decrease in stability and increase in unfolding decrease the net population of dystrophin molecules available for function, which might trigger XLDCM.
|
25340340 |
2014 |