Preferential deletion of exons in Duchenne and Becker muscular dystrophies

No abstract is available for this paper.

• Publication year

  1987

• Venue

  Nature

• Publication date

  1987-10-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/329638A0PMID 2821406
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences

  2004cited by this paper
• Oxford Monographs on Medical Genetics No 15. Duchenne Muscular Dystrophy

  1987cited by this paper
• Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

  1987cited by this paper
• A giant locus for the Duchenne and Becker muscular dystrophy gene

  1987cited by this paper
• Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients.

  1987cited by this paper
• A cDNA clone from the Duchenne/Becker muscular dystrophy gene

  1987cited by this paper
• Muscular dystrophy: mapping the disease phenotype.

  1987cited by this paper
• Mapping the disease phenotype

  1987cited by this paper
• The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome

  1987cited by this paper
• Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

  1986cited by this paper
• Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

  1986cited by this paper
• Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

  1985cited by this paper
• Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy

  1985cited by this paper
• Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome.

  1983cited by this paper
• Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

  1979cited by this paper

• Duchenne Muscular Dystrophy: Genetic and Clinical Profile in the Population of Rajasthan, India

  2021cites this paper
• Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

  2018cites this paper
• The Therapeutic Implications of Muscular Dystrophy Genomics

  2017cites this paper
• 2015 William Allan Award.

  2016cites this paper
• The Pathogenesis and Therapy of Muscular Dystrophies.

  2015cites this paper
• Evaluating Properties of Dystrophin and Delivery Methods of rAAV Gene Therapy for Duchenne Muscular Dystrophy

  2014cites this paper
• Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model

  2013cites this paper
• Capillary electrophoresis for analysis of deletion and duplication in exon 44–55 of Duchenne muscular dystrophy gene

  2013cites this paper
• Detection of pathogenic mutations and the mechanism of a rare chromosomal rearrangement in a Chinese family with Becker muscular dystrophy.

  2012cites this paper
• Growth hormone treatment in boys with Duchenne muscular dystrophy and glucocorticoid-induced growth failure.

  2012cites this paper
• Copy number variant association studies

  2011cites this paper
• Intragenic DNA Polymorphism Analysis of DMD/BMD Dystrophy Gene for Carrier and Prenatal Diagnosis in 60 Iranian Healthy Individuals

  2011cites this paper
• Analysis of complex disease association studies : a practical guide

  2011cites this paper
• 19 – Treatment and Management of Muscular Dystrophies

  2011cites this paper
• Exon deletion in the MSLN gene encoding MPF/mesothelin precursor protein during Laurasiatherian mammal evolution.

  2011cites this paper
• Distrofias musculares en México: un enfoque clínico, bioquímico y molecular

  2010cites this paper
• Combination of conventional multiplex PCR and quantitative real-time PCR detects large rearrangements in the dystrophin gene in 59% of Syrian DMD/BMD patients.

  2010cites this paper
• Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45–55 of the Duchenne muscular dystrophy (DMD) gene

  2009cites this paper
• Copy number variation and mosaicism

  2009cites this paper
• Duchenne muscular dystrophy: a clinical, histopathological and genetic study at a neurology tertiary care center in Southern India.

  2009cites this paper
• Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation‐dependent probe amplification and prenatal diagnosis for one of them

  2009cites this paper
• Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives.

  2008influential citation
• Muscular dystrophies: diagnostic approaches in Hungary.

  2008cites this paper
• Letter to the Editor

  2008cites this paper
• Technology Insight: therapy for Duchenne muscular dystrophy—an opportunity for personalized medicine?

  2008cites this paper
• Mutation detection and the use of tissue expression profiling to elucidate the pathogenesis of Duchenne Muscular Dystrophy.

  2008cites this paper
• Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach.

  2007cites this paper
• Strategy for Comprehensive Molecular Testing for Duchenne and Becker Muscular Dystrophies

  2006cites this paper
• Deletion and duplication screening in the DMD gene using MLPA

  2005cites this paper
• Deletion screening and prenatal diagnosis of Duchenne muscular dystrophy using cDNA probes Cf 23a and Cf 56a

  2005influential citation
• Experience and strategy for the molecular testing of Duchenne muscular dystrophy.

  2005cites this paper
• The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

  2004cites this paper
• Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

  2004cites this paper
• Expression of a dystrophin-related protein associated with the skeletal muscle cell membrane

  2004cites this paper
• Screening of deletions in the dystrophin gene with the cDNA probes Cf 23 a , Cf 56 a , and Cfl 15

  2004cites this paper
• A normal male with an inherited deletion of one exon within the DMD gene

  2004influential citation
• Detecting copy number changes in genomic DNA: MAPH and MLPA.

  2004cites this paper
• TO JMG Bar code screening on combed DNA for large rearrangements of the BRCA 1 and BRCA 2 genes in French breast cancer families

  2002cites this paper
• Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

  2002cites this paper
• Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.

  2002cites this paper
• Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene.

  2002cites this paper
• [Diagnostic techniques described in the study of Duchenne/Becker muscular dystrophy].

  2002cites this paper
• Fluorescence In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophy

  2001cites this paper
• Application of Molecular Methodologies in Muscular Dystrophies

  2001cites this paper
• Deletion and Duplication Analysis in Males Affected with Duchenne or Becker Muscular Dystrophy

  2001cites this paper
• DNA- Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy

  2001cites this paper
• Prenatal Diagnosis of Duchenne Muscular Dystrophy

  2001cites this paper
• Lack of cytosolic and transmembrane domains of type XIII collagen results in progressive myopathy.

  2001cites this paper
• PDFlib PLOP: PDF Linearization, Optimization, Protection Page inserted by evaluation version

  2001cites this paper
• Brain dystrophin, neurogenetics and mental retardation.

  2000cites this paper
• sources and effects of ionizing radiation

  2000cites this paper
• Elevated p21 mRNA level in skeletal muscle of DMD patients and mdx mice indicates either an exhausted satellite cell pool or a higher p21 expression in dystrophin-deficient cells per se

  2000cites this paper
• Dystrophin gene regulation in muscle

  2000cites this paper
• The childhood muscular dystrophies: making order out of chaos.

  1999cites this paper
• [Mutation by deletion-insertion in BRCA-1 gene in three unrelated French breast/ovarian cancer families: possible implication of a mobile element].

  1999cites this paper
• The Childhood Muscular Dystrophies: Making Order Out of Chaos

  1999cites this paper
• [Genotypic diagnosis of Duchenne and Becker muscular dystrophies].

  1999cites this paper
• New mechanism of BRCA-1 mutation by deletion/insertion at the same nucleotide position in three unrelated French breast/ovarian cancer families

  1998cites this paper
• Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene.

  1998cites this paper
• From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy

  1998cites this paper
• Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases.

  1998cites this paper
• Challenges in Duchenne muscular dystrophy.

  1997cites this paper
• Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: the use of new designed primers for the analysis of the major deletion "hot spot" region.

  1997cites this paper
• Are there ethnic differences in deletions in the dystrophin gene?

  1997cites this paper
• Four new polymorphisms in the human dystrophin gene from an Argentinian population

  1997cites this paper
• Identification of Deletion Carriers in Duchenne/Becker Muscular Dystrophy Families Using a Digoxigenin-Labeled Quantitative Polymerase Chain Reaction Technique.

  1997cites this paper
• Illegitimate recombination in Escherichia coli

  1996cites this paper
• Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms. A study in Mexican families.

  1996cites this paper
• Molecular Analysis of Duchenne Muscular Dystrophy: Past, Present, and Future a

  1995cites this paper
• [Molecular genetic research on Duchenne-Becker myodystrophy. The correlation of the severity of the disease with the type of deletion].

  1995cites this paper
• Molecular and genetic aspects of Duchenne muscular dystrophy

  1995cites this paper
• The Childhood Muscular Dystrophies: Diseases Sharing a Common Pathogenesis of Membrane Instability

  1995cites this paper
• Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD families

  1994cites this paper
• A 400-kb tandem duplication within the dystrophin gene leads to severe Becker muscular dystrophy

  1994cites this paper
• The muscular dystrophies.

  1994cites this paper
• The impact of molecular genetics on the care of patients with muscle disease

  1994cites this paper
• Differential polymerase chain reaction in the analysis of gene dosage.

  1993cites this paper
• A cluster of transposon-like repetitive sequences in intron 7 of the human dystrophin gene.

  1993cites this paper
• Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene.

  1993cites this paper
• Polymorphism of pERT locus of dystrophin gene in families with high risk of muscular Duchenne dystrophy and within healthy women from Ukraine

  1993cites this paper
• The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy

  1993cites this paper
• Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families

  1993cites this paper
• Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy.

  1993cites this paper
• The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy

  1993cites this paper
• Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?

  1993cites this paper
• Selection for spontaneous null mutations in a chromosomally-integrated HSV-1 thymidine kinase gene yields deletions and a mutation caused by intragenic illegitimate recombination.

  1993cites this paper
• Applications of Recombinant DNA Technology to the Diagnosis of Genetic Disease: Molecular Methods for Detecting the Genetic Basis of Diseases

  1993cites this paper
• Patterns of deletions of the dystrophin gene in different European populations

  1993cites this paper
• Molecular human genetics and the Duchenne/Becker muscular dystrophy gene.

  1993cites this paper
• The structural and functional diversity of dystrophin

  1993cites this paper
• Der Einsatz von DNA Sonden und Oligonukleotiden in der pränatalen Diagnostik

  1993cites this paper
• Deletion screening of Sri Lankan Duchenne muscular dystrophy patients using the polymerase chain reaction.

  1993cites this paper
• The rapid analysis of dystrophin gene deletions shows variable electrophoretic mobility.

  1993cites this paper
• Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.

  1992cites this paper
• Mapping of X chromosome translocation breakpoints in females with Duchenne muscular dystrophy with respect to exons of the dystrophin gene

  1992cites this paper
• A transposon-like element in the deletion-prone region of the dystrophin gene.

  1992cites this paper
• Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis.

  1992cites this paper
• Molecular genetic approaches to the analysis and diagnosis of human inherited disease: an overview.

  1992cites this paper
• Mapping of FMR1, the gene implicated in fragile X-linked mental retardation, on the mouse X chromosome.

  1992cites this paper
• Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.

  1992cites this paper