|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Co-amplification of 11 exons from genomic DNA of Duchenne and Becker muscular dystrophy (DMD/BMD) patients with no deletion or duplication was performed and the samples subjected to multiple SSCP analysis.
|
1307253 |
1992 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive muscle-wasting disease.
|
1362673 |
1992 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophy (DMD, BMD) have both been clinically recognized for over 100 years, yet throughout much of that time nothing beyond clinical evaluation and supportive care during the disease course was available to patients.
|
1412702 |
1992 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Twenty-three children suffering from Duchenne/Becker muscular dystrophy (DMD/BMD) in Singapore were analysed using the multiplex polymerase chain reaction (PCR) technique.Deletions were found in 14 cases.
|
1433447 |
1992 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
RFLP analysis in Duchenne/Becker muscular dystrophy (D/BMD) has been limited by the lack of informative marker loci at the 3' end of the dystrophin gene.
|
1442890 |
1992 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
An improved method by quantitative dystrophin gene deletion analysis was developed for the detection of Duchenne/Becker muscular dystrophy (DMD/BMD) carriers.
|
1621929 |
1992 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy.
|
1731332 |
1992 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.
|
1785656 |
1991 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Fifty unrelated Japanese patients with Duchenne and Becker muscular dystrophy (DMD and BMD) have been studied through use of the dystrophin cDNA probes.
|
1863988 |
1991 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Neonatal screening for Duchenne/Becker Muscular dystrophy (DMD/BMD) was begun as a pilot program on January 1, 1986.
|
1867267 |
1991 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot.
|
1944822 |
1991 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Its localisation at the 3' end of the dystrophin gene makes it a useful tool for diagnostic applications in families with Duchenne/Becker muscular dystrophy, and for the analysis of intragenic recombination.
|
1968037 |
1990 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Polymorphic loci that lie at the two extremities of the Duchenne/Becker muscular dystrophy (DMD/BMD) gene have been used to estimate intragenic recombination rates.
|
1974880 |
1990 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dystrophin analysis in Duchenne and Becker muscular dystrophy carriers: correlation with intracellular calcium and albumin.
|
1979724 |
1990 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin.
|
1990838 |
1991 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy.
|
2205076 |
1990 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Gene mutations responsible for the majority of Duchenne/Becker muscular dystrophy (DMD/BMD) and cystic fibrosis (CF) chromosomes have been identified.
|
2208650 |
1990 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male.
|
2227948 |
1990 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
DNA probes complementary (cDNA) to the Duchenne/Becker muscular dystrophy gene product, dystrophin, can detect molecular deletions in 60-70% of affected subjects.
|
2563842 |
1989 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cloned cDNA sequences representing exons from the Duchenne/Becker muscular dystrophy (DMD/BMD) gene were used for deletion screening in a population of 287 males males affected with DMD or BMD.
|
2585468 |
1989 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To gain further information relating to the frequency, position and size of DNA deletions in the Duchenne/Becker muscular dystrophy (D/BMD) gene region, and to detect any correlation of these deletions with phenotype, a large clinic-based population of DMD and BMD patients has been investigated using 13 cloned intragenic sequences.
|
2653672 |
1989 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene.
|
2683261 |
1989 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Two deletions detected within the Duchenne/Becker muscular dystrophy (D/BMD) gene of normal male members of two DMD families were both independent, nonpathogenic deletions located in a large intron in the XJ region (DXS206) toward the 5' end of the gene [Burghes et al., 1987].
|
2750784 |
1989 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophy (DMD and BMD) genes are located in Xp21 on the short arm of the X chromosome.
|
2821406 |
1987 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DNA samples from nine previously reported patients with X-linked recessive glycerol kinase deficiency, associated in seven of them with adrenal hypoplasia and in five with developmental delay and myopathy, have been studied for deletions of the Duchenne/Becker muscular dystrophy gene by probing with the entire cDNA for the dystrophin protein.
|
2840818 |
1988 |