Pertti Ritvaniemi

A Fourth Example Suggests That Premature Termination Codons in the COL2A1 Gene Are a Common Cause of the Stickler Syndrome: Analysis of the COL2A1 Gene by Denaturing Gradient Gel Electrophoresis

Pertti Ritvaniemi, James Hyland, Jaakko Ignatius et al. · Genomics · 1993 · 84 citations

Mendelian Disorder, Genetic Disorder, Genetics +11

Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

Jarmo Körkkö, Pertti Ritvaniemi, Leena Haataja et al. · PubMed · 1993 · 80 citations

Identification of col2a1 gene mutations in patients with chondrodysplasias and familial osteoarthritis

Pertti Ritvaniemi, Jarmo Körkkö, Jacky Bonaventure et al. · Arthritis & Rheumatism · 1995 · 68 citations

Early‐onset osteoarthritis linked to the type ii procollagen gene. detailed clinical phenotype and further analyses of the gene

Miikka Vikkula, Aarno Palotie, Pertti Ritvaniemi et al. · Arthritis & Rheumatism · 1993 · 66 citations

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.

Peter Freisinger, Leena Ala‐Kokko, D. Leguellec et al. · Journal of Biological Chemistry · 1994 · 43 citations · Full text

Developmental Biology, Disease Mechanism, Bone Morphogenic Protein +15