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L Ala-Kokko

Showing results (61-70 of 85) with videos related to

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Osteoarthritis and Cartilage|May 23, 2006
Aggrecan core protein of a certain length is protective against hand osteoarthritisO-P Kämäräinen, S Solovieva, T Vehmas, et al.
Human Reproduction (Oxford, England)|April 30, 2005
Association between sequence variations in genes encoding human zona pellucida glycoproteins and fertilization failure in IVFM Männikkö, R-M Törmälä, T Tuuri, et al.
American Journal of Medical Genetics|November 7, 1998
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)T Pihlajamaa, D J Prockop, J Faber, et al.
Current Rheumatology Reports|December 17, 2013
The collagenopathies: review of clinical phenotypes and molecular correlationsRebekah Jobling, Rohan D'Souza, Naomi Baker, et al.
Human Mutation|January 1, 1994
A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasiaP Ritvaniemi, B P Sokolov, C J Williams, et al.
The Journal of Biological Chemistry|July 31, 1999
Characterization of recombinant human type IX collagen. Association of alpha chains into homotrimeric and heterotrimeric moleculesT Pihlajamaa, M Perälä, M M Vuoristo, et al.
The Biochemical Journal|January 6, 2000
Lack of a phenotype in transgenic mice aberrantly expressing COL2A1 mRNA because of highly selective post-transcriptional down-regulationC M Yuan, L Ala-Kokko, D Le Guellec, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 1, 1991
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)N N Ahmad, L Ala-Kokko, R G Knowlton, et al.
The Biochemical Journal|May 1, 1995
Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationshipsJ Bonaventure, L Cohen-Solal, P Ritvaniemi, et al.
The Journal of Clinical Investigation|August 1, 1993
An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in jointsH J Helminen, K Kiraly, A Pelttari, et al.
Pageof 9

Showing results (61-70 of 85) with videos related to

Sort By:
Pageof 9
Osteoarthritis and Cartilage|May 23, 2006
Aggrecan core protein of a certain length is protective against hand osteoarthritisO-P Kämäräinen, S Solovieva, T Vehmas, et al.
Human Reproduction (Oxford, England)|April 30, 2005
Association between sequence variations in genes encoding human zona pellucida glycoproteins and fertilization failure in IVFM Männikkö, R-M Törmälä, T Tuuri, et al.
American Journal of Medical Genetics|November 7, 1998
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)T Pihlajamaa, D J Prockop, J Faber, et al.
Current Rheumatology Reports|December 17, 2013
The collagenopathies: review of clinical phenotypes and molecular correlationsRebekah Jobling, Rohan D'Souza, Naomi Baker, et al.
Human Mutation|January 1, 1994
A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasiaP Ritvaniemi, B P Sokolov, C J Williams, et al.
The Journal of Biological Chemistry|July 31, 1999
Characterization of recombinant human type IX collagen. Association of alpha chains into homotrimeric and heterotrimeric moleculesT Pihlajamaa, M Perälä, M M Vuoristo, et al.
The Biochemical Journal|January 6, 2000
Lack of a phenotype in transgenic mice aberrantly expressing COL2A1 mRNA because of highly selective post-transcriptional down-regulationC M Yuan, L Ala-Kokko, D Le Guellec, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 1, 1991
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)N N Ahmad, L Ala-Kokko, R G Knowlton, et al.
The Biochemical Journal|May 1, 1995
Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationshipsJ Bonaventure, L Cohen-Solal, P Ritvaniemi, et al.
The Journal of Clinical Investigation|August 1, 1993
An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in jointsH J Helminen, K Kiraly, A Pelttari, et al.
Pageof 9