Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1984 • 4,899 citations

Hypervariable ‘minisatellite’ regions in human DNA

1985 • 3,789 citations

Individual-specific ‘fingerprints’ of human DNA

1985 • 2,164 citations

The Marfan Syndrome: Diagnosis and Management

1979 • 901 citations

Life Expectancy and Causes of Death in the Marfan Syndrome

1972 • 752 citations

OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENES

1986 • 445 citations

DNA "fingerprints" and segregation analysis of multiple markers in human pedigrees.

1986 • 286 citations

Surgical Treatment of Aneurysms of the Ascending Aorta in the Marfan Syndrome

1986 • 204 citations

Collagen genes and inherited connective tissue disease

1985 • 120 citations

Marfan syndrome: abnormal alpha 2 chain in type I collagen.

1981 • 111 citations

Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family.

1985 • 72 citations

Cardiac, skeletal, and ocular abnormalities in patients with Marfan's syndrome and in their relatives. Comparison with the cardiac abnormalities in patients with kyphoscoliosis.

1984 • 68 citations

MARFAN'S SYNDROME IN NORTHERN IRELAND: AN ACCOUNT OF THIRTEEN FAMILIES

1958 • 66 citations

Regional localization of the human Rα2(I) collagen gene on chromosome 7 by molecular hybridization

1983 • 52 citations

Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta.

1985 • 47 citations

Mutations in collagen genes. Consequences for rare and common diseases.

1985 • 42 citations

An RFLP associated with the human type III collagen gene (COL3A1)

1985 • 30 citations

Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta.

1985 • 23 citations

Isolation and Characterization of a Human Pro α2(I) Collagen Gene Segment

1984 • 12 citations