|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have designed a multiplex ligation-dependent probe amplification (MLPA) assay to simultaneously screen all 79 DMD gene exons for deletions and duplications in Duchenne and Becker muscular dystrophy (DMD/BMD) patients.
|
16030524 |
2005 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
We have investigated the frequency of deletions in the dystrophin gene in 108 unrelated Duchenne and Becker muscular dystrophy (DMD/BMD) patients from southern Italy (DMD, n. 47; BMD, n. 61) and identified 89 deletions.
|
15845029 |
2005 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although the molecular defect causing Duchenne/Becker muscular dystrophy (DMD/BMD) was identified nearly 20 years ago, the development of effective therapeutic strategies has nonetheless remained a daunting challenge.
|
15923398 |
2005 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistry using antibodies to dystrophin is the pathological basis for the diagnosis of Duchenne and Becker muscular dystrophy (DMD and BMD).
|
15488030 |
2004 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Absence of dystrophin in mice reduces NO-dependent vascular function and vascular density: total recovery after a treatment with the aminoglycoside gentamicin.
|
14751810 |
2004 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker Muscular Dystrophy (DMD and BMD) are caused, in the majority of cases, by deletions in the dystrophin gene ( DMD).
|
15118904 |
2004 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.
|
15610607 |
2004 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
|
14695533 |
2004 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy.
|
14977063 |
2004 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Using a set of exon-specific cosmid DNA probes representing 18 exons, one-color FISH on metaphase and interphase preparations was performed to identify Duchenne/Becker muscular dystrophy (DMD/BMD) deletion carriers.
|
14641995 |
2003 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results.
|
12966700 |
2003 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
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 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Deletion analysis of the dystrophin gene in Duchenne and Becker muscular dystrophy patients: use in carrier diagnosis.
|
14571009 |
2003 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscular dystrophies.
|
12102170 |
2002 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Ethical aspects on human gene therapy are briefly discussed, in relation to the protocol developed in Duchenne/Becker muscular dystrophy with a full-length dystrophin plasmid.
|
12206796 |
2002 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.
|
12518196 |
2002 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Diagnosis of Duchenne and Becker muscular dystrophy was confirmed by molecular analysis of the dystrophin gene and for each patient the abnormal expression of dystrophin was confirmed, in skeletal muscle, with antibodies directed against the deleted part of the dystrophin.
|
12206794 |
2002 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To correlate the electroretinography (ERG) findings in patients with Duchenne/Becker muscular dystrophy (D/BMD) with the genotype and evaluate the ERG findings in DMD carriers.
|
12324874 |
2002 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Carrier detection in non-deletional Duchenne/Becker muscular dystrophy families using polymorphic dinucleotide (CA) repeat loci of dystrophin gene.
|
11280167 |
2001 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries).
|
11409318 |
2001 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
A subset of patients with Duchenne and Becker muscular dystrophy similarly possess a nonsense mutation, causing premature termination of dystrophin translation.
|
11409421 |
2001 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Small mutations are the cause of the disease in one third of cases of Duchenne and Becker muscular dystrophy (DMD/BMD).
|
10573008 |
2000 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy.
|
10939566 |
2000 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One hundred thirty-eight patients with Duchenne/Becker muscular dystrophy (DMD/BMD) were screened with complete cDNA probes and the multiplex polymerase chain reaction (mPCR) amplification of 18 pairs of oligonucleotide primers.
|
10465346 |
1999 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Left ventricular thrombosis and systemic emboli have been demonstrated to complicate cardiomyopathy in Duchenne and Becker muscular dystrophy (DMD, BMD).
|
10235436 |
1999 |