Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia

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

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

1985 • 455 citations

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

1985 • 390 citations

PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

1985 • 380 citations

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy

1985 • 368 citations

A strategy to reveal high-frequency RFLPs along the human X chromosome.

1984 • 361 citations

[A new technic of analysis of the human karyotype].

1971 • 218 citations

A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome

1986 • 152 citations

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1987 • 133 citations

Long-range restriction map around the Duchenne muscular dystrophy gene

1986 • 120 citations

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

1987 • 93 citations

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: Isolation and use of J66 (DXS268), a distal intragenic marker

1987 • 65 citations

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

1986 • 62 citations

Familial hyperglycerolemia.

1978 • 56 citations

CONCORDANCE OF X-LINKED GLYCEROL KINASE DEFICIENCY WITH X-LINKED CONGENITAL ADRENAL HYPOPLASIA

1982 • 55 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

‘Pseudohypertriglyceridemia’ caused by hyperglycerolemia due to congenital enzyme deficiency

1982 • 38 citations

Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.

1986 • 37 citations

Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci

1985 • 36 citations

Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus

1986 • 35 citations

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

1986 • 30 citations

Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy

1986 • 18 citations

Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia

1987 • 12 citations

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