|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mouse models of two missense mutations in actin-binding domain 1 of dystrophin associated with Duchenne or Becker muscular dystrophy.
|
29194514 |
2018 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation-induced exon skipping in the DMD gene can modulate the severity of the phenotype in patients with Duchenne or Becker Muscular Dystrophy.
|
29067662 |
2018 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Echo-measures of ventricular function were compared with published norms in a cross-sectional study of 130 (age, 39 ± 15.7 years) "carriers" of Duchenne or Becker muscular dystrophy (DMD/BMD).
|
27761893 |
2017 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein.
|
26022172 |
2015 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
It involved quantitative PCR procedures followed by DNA sequence analysis for the identification of dystrophin mutation carriers in 2101 women at risk of being carriers from 348 mutation-known Duchenne or Becker muscular dystrophy pedigrees.
|
17259292 |
2007 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this report, we have developed a novel method to identify compounds that rescue the dystrophin-glycoprotein complex (DGC) in patients with Duchenne or Becker muscular dystrophy.
|
16192300 |
2006 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker muscular dystrophy (DMD/BMD), and to study genotype-phenotype correlation.
|
16834926 |
2006 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin splicing mutations have been reported to determine either Duchenne or Becker Muscular Dystrophy, but no comprehensive genotypic/phenotypic correlation has ever been investigated.
|
11479738 |
2001 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in dystrophin result in Duchenne or Becker muscular dystrophy.
|
10801490 |
2000 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Damage to or absence of dystrophin causes Duchenne or Becker muscular dystrophy.
|
11382192 |
2000 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Two-thirds of patients affected by Duchenne or Becker muscular dystrophy (DMD/BMD) carry large intra-genic deletions in the dystrophin gene.
|
9829273 |
1998 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The identification of mutations in Duchenne or Becker muscular dystrophy (DMD/BMD) patients is important for carrier detection in these families.
|
9664586 |
1998 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The multiplex polymerase chain reaction (PCR) is a reliable and efficient method for detecting dystrophin gene deletions in about 65% of patients with Duchenne or Becker muscular dystrophy (DMD or BMD).
|
9524268 |
1998 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Starting from a group of 265 Italian patients affected with Duchenne or Becker muscular dystrophy a screening for duplications in the dystrophin gene was performed on 112 cases in which no deletions had previously been detected.
|
8034300 |
1994 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Multiplex Polymerase Chain Reaction (PCR) for 18 different exons of the dystrophin gene was used to characterize the mutations in 29 Cypriot families with Duchenne or Becker Muscular Dystrophy.
|
7858171 |
1994 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The enormous size of the human dystrophin gene (2300 kb) has so far hindered the analysis of its organization and the characterization at the genomic level of the deletion and duplication mutations causing Duchenne or Becker muscular dystrophy.
|
8000141 |
1994 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One third of mutations responsible for Duchenne or Becker muscular dystrophy (DMD/BMD) represent point mutations or other small sequence alterations not readily detectable by Southern blot analysis or multiplex amplification.
|
8045556 |
1994 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the clinical spectrum of the dystrophinopathies are now such that the clinician needs to be aware of a broader range of clinical disorders that require analysis of the dystrophin gene and its product, not just those that mirror a classic Duchenne or Becker muscular dystrophy picture.
|
8452597 |
1993 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to identify point mutations in patients with Duchenne or Becker muscular dystrophy (DMD or BMD) who have no gross DNA rearrangements detectable by Southern blot analysis or multiplex exon amplification.
|
8257990 |
1993 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DNA analysis of peripheral-blood leukocytes is routinely used to demonstrate mutations in the dystrophin gene in patients with Duchenne's or Becker's muscular dystrophy.
|
8361505 |
1993 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
There are rare female patients who suffer from Duchenne or Becker muscular dystrophy because they carry an X;autosome translocation with a breakpoint in the dystrophin gene.
|
1483697 |
1992 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.
|
1362223 |
1992 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Important examples include the dystrophin protein which, when mutated, gives rise to either Duchenne or Becker muscular dystrophy [Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C. and Kunkel, L. M. (1987) Cell 50, 509-517; Monaco, A. P., Bertelson, C. J., Liechti-Gallati, S. & Kunkel, L. M. (1988) Genomics 2, 90-95; Koenig, M., Monaco, A. P. & Kunkel, L. M. (1988) Cell 53, 219-228] and the cystic fibrosis transmembrane conductance regulator (CFTR) [Riordan, J. R., Rommens, J. M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., Drumm, M. L., Ianuzzi, M. C., Collins, F. S. & Tsui, L.-C. (1989) Science 245, 1066-1073].
|
2269271 |
1990 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
When used in conjunction with an existing primer set, these two multiplex reactions detect about 98% of deletions in patients with Duchenne or Becker muscular dystrophy (DMD, BMD).
|
2253937 |
1990 |
|
Duchenne or Becker muscular dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Using the polymerase chain reaction (PCR) technique, we have screened the DNA of 42 patients with Duchenne or Becker muscular dystrophy for deletions within the DMD gene.
|
2303244 |
1990 |