Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

Hypervariable ‘minisatellite’ regions in human DNA

1985 • 3,789 citations

Genetic heterogeneity in osteogenesis imperfecta.

1979 • 2,147 citations

OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENES

1986 • 445 citations

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

1988 • 228 citations

Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.

1975 • 189 citations

Altered Relation of Two Collagen Types in Osteogenesis Imperfecta

1977 • 143 citations

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.

1983 • 102 citations

Homozygous osteogenesis imperfecta unlinked to collagen I genes

1988 • 66 citations

Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta.

1984 • 58 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

The number of families required to detect or exclude linkage heterogeneity.

1986 • 42 citations

Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.

1986 • 36 citations

Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.

1985 • 30 citations

Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.

1986 • 26 citations

An RFLP close to the human collagen I gene COL1AI

1987 • 11 citations

DNA polymorphisms in collagen genes: potential use in the study of disease.

1985 • 6 citations