Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1970 • 253,849 citations

Short-Term Effects of Nose-Only Cigarette Smoke Exposure on Glutathione Redox Homeostasis, Cytochrome P450 1A1/2 and Respiratory Enzyme Activities in Mice Tissues

2013 • 47,043 citations

Easy calculations of lod scores and genetic risks on small computers.

1984 • 1,526 citations

Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

1975 • 421 citations

Report of the committee on human gene mapping by recombinant DNA techniques

1984 • 274 citations

Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene.

1985 • 191 citations

Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).

1967 • 176 citations

Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.

1982 • 137 citations

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

1979 • 129 citations

Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta.

1985 • 113 citations

Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases.

1985 • 102 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

EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types

1980 • 89 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

Ehlers‐Danlos syndrome type IV D: an autosomal recessive disorder

1984 • 30 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