Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1
Kannu, Peter, O'Rielly, D.D., Hyland, J.C., Kokko, L. Ala
Published in American journal of medical genetics. Part A (01.07.2011)
Published in American journal of medical genetics. Part A (01.07.2011)
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Phenotypic and population differences in the association between CILP and lumbar disc disease
Virtanen, I M, Song, Y Q, Cheung, K M C, Ala-Kokko, L, Karppinen, J, Ho, D W H, Luk, K D K, Yip, S P, Leong, J C Y, Cheah, K S E, Sham, P, Chan, D
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Published in Journal of medical genetics (01.04.2007)
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The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis
Jakkula, E., Melkoniemi, M., Kiviranta, I., Lohiniva, J., Räinä, S.S., Perälä, M., Warman, M.L., Ahonen, K., Kröger, H., Göring, H.H.H., Ala-Kokko, L.
Published in Osteoarthritis and cartilage (01.06.2005)
Published in Osteoarthritis and cartilage (01.06.2005)
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Association between sequence variations in genes encoding human zona pellucida glycoproteins and fertilization failure in IVF
Männikkö, M., Törmälä, R.-M., Tuuri, T., Haltia, A., Martikainen, H., Ala-Kokko, L., Tapanainen, J.S., Lakkakorpi, J.T.
Published in Human reproduction (Oxford) (01.06.2005)
Published in Human reproduction (Oxford) (01.06.2005)
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The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations
Jobling, Rebekah, D’Souza, Rohan, Baker, Naomi, Lara-Corrales, Irene, Mendoza-Londono, Roberto, Dupuis, Lucie, Savarirayan, Ravi, Ala-Kokko, L., Kannu, Peter
Published in Current rheumatology reports (2014)
Published in Current rheumatology reports (2014)
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Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis
Taipale, M, Jakkula, E, Kämäräinen, O.-P, Gao, P, Skarp, S, Barral, S, Kiviranta, I, Kröger, H, Ott, J, Wei, G.-H, Ala-Kokko, L, Männikkö, M
Published in Osteoarthritis and cartilage (01.04.2016)
Published in Osteoarthritis and cartilage (01.04.2016)
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Stop Codon in the Procollagen II Gene (COL2A1) in a Family with the Stickler Syndrome (Arthro-Ophthalmopathy)
Ahmad, Nilofer Nina, Ala-Kokko, Leena, Knowlton, Robert G., Jimenez, Sergio A., Weaver, Eric J., Maguire, Joseph I., Tasman, William, Prockop, Darwin J.
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.1991)
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.1991)
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First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q
Devoto, M, Shimoya, K, Caminis, J, Ott, J, Tenenhouse, A, Whyte, MP, Sereda, L, Hall, S, Considine, E, Williams, CJ, Tromp, G, Kuivaniemi, H, Ala-Kokko, L, Prockop, DJ, Spotila, LD
Published in European journal of human genetics : EJHG (01.03.1998)
Published in European journal of human genetics : EJHG (01.03.1998)
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Structure of cDNA clones coding for the entire preproα1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences
Ala-Kokko, L, Kontusaari, S, Baldwin, C T, Kuivaniemi, H, Prockop, D J
Published in Biochemical journal (01.06.1989)
Published in Biochemical journal (01.06.1989)
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Expression of a Partially Deleted Gene of Human Type II Procollagen (COL2A1) in Transgenic Mice Produces a Chondrodysplasia
Vandenberg, P, Khillan, J S, Prockop, D J, Helminen, H, Kontusaari, S, Ala-Kokko, L
Published in Proceedings of the National Academy of Sciences - PNAS (01.09.1991)
Published in Proceedings of the National Academy of Sciences - PNAS (01.09.1991)
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Aggrecan core protein of a certain length is protective against hand osteoarthritis
Kämäräinen, O.-P., Solovieva, S., Vehmas, T., Luoma, K., Leino-Arjas, P., Riihimäki, H., Ala-Kokko, L., Männikkö, M.
Published in Osteoarthritis and cartilage (01.10.2006)
Published in Osteoarthritis and cartilage (01.10.2006)
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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
Freisinger, P, Ala-Kokko, L, LeGuellec, D, Franc, S, Bouvier, R, Ritvaniemi, P, Prockop, D J, Bonaventure, J
Published in The Journal of biological chemistry (06.05.1994)
Published in The Journal of biological chemistry (06.05.1994)
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Gene expression of type I, III and IV collagens in hepatic fibrosis induced by dimethylnitrosamine in the rat
Ala-Kokko, L, Pihlajaniemi, T, Myers, J C, Kivirikko, K I, Savolainen, E R
Published in Biochemical journal (15.05.1987)
Published in Biochemical journal (15.05.1987)
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Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia
Jackson, G C, Barker, F S, Jakkula, E, Czarny-Ratajczak, M, Mäkitie, O, Cole, W G, Wright, M J, Smithson, S F, Suri, M, Rogala, P, Mortier, G R, Baldock, C, Wallace, A, Elles, R, Ala-Kokko, L, Briggs, M D
Published in Journal of medical genetics (01.01.2004)
Published in Journal of medical genetics (01.01.2004)
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A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
Jakkula, E, Lohiniva, J, Capone, A, Bonafe, L, Marti, M, Schuster, V, Giedion, A, Eich, G, Boltshauser, E, Ala-Kokko, L, Superti-Furga, A
Published in Journal of medical genetics (01.12.2003)
Published in Journal of medical genetics (01.12.2003)
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Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16
TROMP, G, KUIVANIEMI, H, KORN, R, MADHATHERI, S, MCCARRON, S, PULKKINEN, L, PUNNETT, H, SHIMOYA, K, SPOTILA, L, TATE, A, WILLIAMS, C. J, RAPHAEL, S, ALA-KOKKO, L, CHRISTIANO, A, CONSIDINE, E, DHULIPALA, R, HYLAND, J, JOKINEN, A, KIVIRKKO, S
Published in American journal of human genetics (01.11.1996)
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Published in American journal of human genetics (01.11.1996)
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Expression of a human cartilage procollagen gene (COL2A1) in mouse 3T3 cells
ALA-KOKKO, L, HYLAND, J, SMITH, C, KIVIRIKKO, K. I, JIMENEZ, S. A, PROCKOP, D. J
Published in The Journal of biological chemistry (05.08.1991)
Published in The Journal of biological chemistry (05.08.1991)
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