Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMES

1971 • 5,049 citations

New Giemsa method for the differential staining of sister chromatids

1974 • 3,198 citations

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

1977 • 1,372 citations

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

1985 • 456 citations

Abnormal X chromosomes in man: Origin, behavior and effects

1974 • 135 citations

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

1980 • 96 citations

Random X inactivation resulting in mosaic nullisomy of region Xp21.1→p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease

1984 • 89 citations

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis

1986 • 81 citations

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

1986 • 62 citations

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs

1983 • 47 citations

DELETION ON THE X CHROMOSOME DETECTED BY DIRECT DNA ANALYSIS IN ONE OF TWO UNRELATED BOYS WITH GLYCEROL KINASE DEFICIENCY, ADRENAL HYPOPLASIA, AND DUCHENNE MUSCULAR DYSTROPHY

1986 • 44 citations

Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry

1986 • 39 citations