Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jaana Lohiniva"'
Autor:
Harald H H Göring, Eveliina Jakkula, S. Susanna Räinä, Miia Melkoniemi, Leena Ala-Kokko, Heikki Kröger, Ilkka Kiviranta, K. Ahonen, Merja Perälä, Jaana Lohiniva, Matthew L. Warman
Publikováno v:
Osteoarthritis and Cartilage. 13(6):497-507
Summary Objective We sought to determine whether sequence variations in cartilage collagen genes are associated with primary, early-onset osteoarthritis (OA). Methods The cartilage collagen genes, COL2A1 , COL9A1 , COL9A2 , COL9A3 , COL11A1 and COL11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b594fb7531f4f45603ff2cb5e5550f94
Autor:
Eugen Boltshauser, A. Giedion, Eveliina Jakkula, M Marti, Luisa Bonafé, V Schuster, A Capone, Georg Eich, Andrea Superti-Furga, Jaana Lohiniva, Leena Ala-Kokko
Publikováno v:
Journal of Medical Genetics. 40:942-948
Multiple epiphyseal dysplasia (MED) is clinically and genetically a heterogeneous disorder that affects growth centres and results in delayed and irregular mineralisation of the ossification centres.1,2 Recessively inherited MED (rMED; MIM 226900) ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cfa2948696a4673d76f8987980e4207
https://doi.org/10.1136/jmg.40.12.942
https://doi.org/10.1136/jmg.40.12.942
Autor:
Jaana Lohiniva, Päivi Leino-Arjas, Hilkka Riihimäki, Svetlana Solovieva, Raili Raininko, Katariina Luoma, Leena Ala-Kokko
Publikováno v:
Spine. 27:2691-2696
STUDY DESIGN: Cross-sectional. OBJECTIVES: To evaluate the interaction between the COL9A3 gene polymorphism and persistent obesity in relation to lumbar disc degeneration. SUMMARY OF BACKGROUND DATA: Obesity has been suggested to be a risk factor for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727f9510ded364da84c4d199da3c7146
https://doi.org/10.1097/00007632-200212010-00008
https://doi.org/10.1097/00007632-200212010-00008
Autor:
Renata Glazar, Ulpu Seppänen, Tim D. Spector, Liisa Carter, Malwina Czarny-Ratajczak, Anna Latos-Bielenska, Jaana Lohiniva, Jan Królewski, Leena Ala-Kokko, Kazimierz Kozlowski, Piotr Rogala, Merja Perälä, Lukasz Kolodziej
Publikováno v:
The American Journal of Human Genetics. 69:969-980
Multiple epiphyseal dysplasia (MED) is an autosomal dominantly inherited chondrodysplasia. It is clinically highly heterogeneous, partially because of its complex genetic background. Mutations in four genes, COL9A2, COL9A3, COMP, and MATR3, all codin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3139f85bde2be9043edcb1244b7d4c5
https://doi.org/10.1086/324023
https://doi.org/10.1086/324023
Autor:
Sirpa Kivirikko, Ulpu Seppänen, Petteri Paassilta, Outi Vierimaa, Leena Ala-Kokko, Jaana Lohiniva
Publikováno v:
American Journal of Medical Genetics. 90:216-222
We report on a three-generation family with multiple epiphyseal dysplasia (MED). The propositus had typical MED findings of knees, ankles, elbows, and hands in childhood. The 2 other affected relatives were adults. The main clinical findings consiste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02e9ed11b09f17ec9172dd0d6382a3c6
https://doi.org/10.1002/(sici)1096-8628(20000131)90:3<216::aid-ajmg6>3.0.co
https://doi.org/10.1002/(sici)1096-8628(20000131)90:3<216::aid-ajmg6>3.0.co
Autor:
Leena Ala-Kokko, Martine Le Merrer, Susanna Annunen, Petteri Paassilta, Jaana Lohiniva, Jacky Bonaventure, Lori Pai
Publikováno v:
The American Journal of Human Genetics. 64(4):1036-1044
Summary Multiple epiphyseal dysplasia (MED), an autosomal dominant osteochondrodysplasia, is a clinically and genetically heterogeneous disorder characterized by mild short stature and early-onset osteoarthritis. The phenotypic spectrum includes the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a6a0794a759ae204c3b4e332d3cf143
Autor:
Raili Raininko, Leena Ala-Kokko, Päivi Leino-Arjas, Katariina Luoma, Svetlana Solovieva, Hilkka Riihimäki, Jaana Lohiniva
Disc degeneration is a complex condition in which environmental factors and multiple genes are expected to act together to determine the degenerative phenotype. Recently associations of COL9A2 (Trp2 allele) and COL9A3 (Trp3 allele) polymorphisms with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae217af867b8c1b90234133229fdedf8
https://europepmc.org/articles/PMC3489335/
https://europepmc.org/articles/PMC3489335/
Autor:
Ralph S. Lachman, Jaana Lohiniva, Leena Ala-Kokko, Petteri Paassilta, Bernhard Zabel, Sheila Unger, Daniel H. Cohn, Holden P, Briggs, David L. Rimoin
Publikováno v:
Pediatric radiology. 31(1)
Multiple epiphyseal dysplasia (MED) is an osteochondrodysplasia characterized clinically by mild short stature and early-onset degenerative joint disease and radiographically by epiphyseal hypoplasia/dysplasia. MED is genetically heterogeneous, with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a0c4ddfbf1f0f5b514796c543ee00b0
https://pubmed.ncbi.nlm.nih.gov/11200990
https://pubmed.ncbi.nlm.nih.gov/11200990
Autor:
Osmo Tervonen, Susanna Annunen, Lasse Ryhänen, Seppo Lähde, Petteri Paassilta, Heikki Vanharanta, Harald H H Göring, Merja Perälä, Tero Pihlajamaa, Jaana Lohiniva, Darwin J. Prockop, Jaro Karppinen, Heikki Kröger, Leena Ala-Kokko, Jurg Ott
Publikováno v:
Science (New York, N.Y.). 285(5426)
Intervertebral disc disease is one of the most common musculoskeletal disorders. A number of environmental and anthropometric risk factors may contribute to it, and recent reports have suggested the importance of genetic factors as well. The COL9A2 g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60bbe02bcbb52d12b905b8bdc1996b32
https://pubmed.ncbi.nlm.nih.gov/10411504
https://pubmed.ncbi.nlm.nih.gov/10411504