A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1987 • 64,270 citations

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

1987 • 45,673 citations

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

1985 • 1,207 citations

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

1995 • 508 citations

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

1995 • 377 citations

D-periodic distribution of collagen type IX along cartilage fibrils.

1988 • 347 citations

Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease.

1994 • 297 citations

FACIT collagens: diverse molecular bridges in extracellular matrices

1991 • 287 citations

Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding

1992 • 274 citations

Type IX collagen proteoglycan from cartilage is covalently cross-linked to type II collagen.

1988 • 262 citations

Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion.

1993 • 188 citations

Dysplasia epiphysiais multiplex

1947 • 111 citations

Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilage

1993 • 82 citations

Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias

1994 • 82 citations

Multiple Epiphysial Dysplasia

1958 • 52 citations

Genetic linkage of mild pseudoachondroplasia (PSACH) to markersin the pericentromeric region of chromosome 19

1993 • 51 citations

The Influence of the Blood Pressure in Urographic Examination

1950 • 50 citations

Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19.

1994 • 47 citations

Genetic heterogeneity in multiple epiphyseal dysplasia.

1995 • 44 citations

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

1994 • 41 citations

Molecular cloning of the human α2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1

1993 • 37 citations

Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee

1988 • 19 citations

The exon structure of the mouse alpha 2(IX) collagen gene shows unexpected divergence from the chick gene.

1994 • 19 citations

Articular Degeneration as a Sequela of Osteochondrodysplasias

1985 • 10 citations

[A Dutch family with hereditary joint symptoms; multiple epiphyseal dysplasia].

1993 • 3 citations