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

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

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

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

1992 • 1,338 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

Illegitimate transcription: transcription of any gene in any cell type.

1989 • 647 citations

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1991 • 550 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

Access to a Messenger RNA Sequence or Its Protein Product Is Not Limited by Tissue or Species Specificity

1989 • 306 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

Point mutations in the dystrophin gene.

1992 • 189 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 diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

1990 • 75 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

Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts

1992 • 41 citations

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA

1990 • 39 citations

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

1992 • 27 citations

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

1990 • 24 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

Detection of human spermatid-specific transcripts in peripheral blood lymphocytes of males and females

1991 • 14 citations

Sporadic cases in Duchenne muscular dystrophy

1987 • 10 citations

Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus.

1991 • 6 citations

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