Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

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1990 • 271 citations

Identification of the Molecular Defect in a Family with Spondyloepiphyseal Dysplasia

1989 • 248 citations

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

1988 • 192 citations

Genetic Linkage of a Polymorphism in the Type II Procollagen Gene (COL2A1) to Primary Osteoarthritis Associated with Mild Chondrodysplasia

1990 • 185 citations

PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENE

1989 • 180 citations

Glycine to serine substitution in the triple helical domain of pro-α 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism

1989 • 153 citations

Identification and characterization of the human type II collagen gene (COL2A1).

1985 • 139 citations

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1984 • 129 citations

Arthritis and Allied Conditions: A Textbook of Rheumatology.

1988 • 128 citations

Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

1989 • 118 citations

Immunosuppression with chlorambucil, versus placebo, for scleroderma. Results of a three‐year, parallel, randomized, double‐blind study

1989 • 117 citations

Structure of cDNA clones coding for human type II procollagen. The α 1(II) chain is more similar to the α 1(I) chain than two other α chains of fibrillar collagens

1989 • 101 citations

Type I procollagen: The gene‐protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue

1989 • 96 citations

Isolation and partial characterization of the entire human proα I(II) collagen gene

1985 • 89 citations

A Single Base Mutation That Substitutes Serine for Glycine 790 of the α 1 (III) Chain of Type III Procollagen Exposes an Arginine and Causes Ehlers-Danlos Syndrome IV

1989 • 79 citations

Crystalline fibril structure of type II collagen in lamprey notochord sheath

1984 • 69 citations

Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV

1989 • 68 citations

Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms.

1986 • 52 citations

Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity^a

1988 • 36 citations

Organization of the exons coding for pro α1(II) collagen N-propeptide confirms a distinct evolutionary history of this domain of the fibrillar collagen genes

1989 • 31 citations

Early‐onset primary osteoarthritis and mild chondrodysplasia

1990 • 30 citations

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1953 • 30 citations

Structural analyses of the polymorphic area in type II collagen gene

1989 • 15 citations