Molecular genetic analysis of 67 patients with duchenne/becker muscular dystrophy

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1987 • 2,353 citations

Easy calculations of lod scores and genetic risks on small computers.

1984 • 1,526 citations

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1988 • 1,501 citations

Population frequencies of inherited neuromuscular diseases—A world survey

1991 • 1,425 citations

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1988 • 1,260 citations

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1988 • 1,140 citations

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1990 • 677 citations

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

1989 • 498 citations

MULTIPLEX PCR FOR THE DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY

1990 • 231 citations

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

1990 • 230 citations

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

1989 • 203 citations

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.

1991 • 165 citations

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

1988 • 154 citations

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

1990 • 106 citations

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus

1990 • 76 citations

Gene deletions in X-linked muscular dystrophy.

1989 • 73 citations

Point mutation in the human dystrophin gene: Identification through Western blot analysis

1991 • 68 citations

Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy

1989 • 56 citations

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.

1991 • 54 citations

Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases

1990 • 54 citations

Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier.

1990 • 24 citations

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

1990 • 19 citations

Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-?F508 mutations in German cystic fibrosis patients

1992 • 16 citations

Identification of a new DMD gene deletion by ectopic transcript analysis.

1992 • 14 citations

Sporadic cases in Duchenne muscular dystrophy

1987 • 10 citations

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