Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Disease and COL2A1[original query] |
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| Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 2006 May 15 (5): 613-9. Solovieva S, Lohiniva J, Leino-Arjas P, Raininko R, Luoma K, Ala-Kokko L, Riihimäki H |
| A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese. Human molecular genetics 2005 Apr 14 (8): 1009-17. Mototani Hideyuki, Mabuchi Akihiko, Saito Susumu, Fujioka Mikihiro, Iida Aritoshi, Takatori Yoshio, Kotani Akihiro, Kubo Toshikazu, Nakamura Kozo, Sekine Akihiro, Murakami Yoshinori, Tsunoda Tatsuhiko, Notoya Kohei, Nakamura Yusuke, Ikegawa Shi |
| An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nature genetics 2005 1 37 (2): 138-44. Kizawa Hideki, Kou Ikuyo, Iida Aritoshi, Sudo Akihiro, Miyamoto Yoshinari, Fukuda Akira, Mabuchi Akihiko, Kotani Akihiro, Kawakami Akira, Yamamoto Seizo, Uchida Atsumasa, Nakamura Kozo, Notoya Kohei, Nakamura Yusuke, Ikegawa Shi |
| Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region. The British journal of ophthalmology 2007 Jul 91 (7): 966-70. Ennis Sarah, Goverdhan Srini, Cree Angela, Hoh Josephine, Collins Andrew, Lotery Andr |
| Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis. PloS one 2008 3 (6): e2285. Jamieson Sarra E, de Roubaix Lee-Anne, Cortina-Borja Mario, Tan Hooi Kuan, Mui Ernest J, Cordell Heather J, Kirisits Michael J, Miller E Nancy, Peacock Christopher S, Hargrave Aubrey C, Coyne Jessica J, Boyer Kenneth, Bessieres Marie-Hélène, Buffolano Wilma, Ferret Nicole, Franck Jacqueline, Kieffer François, Meier Paul, Nowakowska Dorota E, Paul Malgorzata, Peyron François, Stray-Pedersen Babill, Prusa Andrea-Romana, Thulliez Philippe, Wallon Martine, Petersen Eskild, McLeod Rima, Gilbert Ruth E, Blackwell Jenefer |
| Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. The Journal of bone and joint surgery. British volume 2008 Nov 90 (11): 1507-11. Kenet G, Ezra E, Wientroub S, Steinberg D M, Rosenberg N, Waldman D, Hayek |
| A COL2A1 gene polymorphism is related with advanced stages of osteoarthritis of the knee in Mexican Mestizo population. Rheumatology international 2010 Jun 30 (8): 1035-9. Gálvez-Rosas Arturo, González-Huerta Celia, Borgonio-Cuadra Verónica Marusa, Duarte-Salazár Carolina, Lara-Alvarado Lorena, de los Angeles Soria-Bastida María, Cortés-González Socorro, Ramón-Gallegos Eva, Miranda-Duarte Anton |
| Host genetic and epigenetic factors in toxoplasmosis. Memórias do Instituto Oswaldo Cruz 2009 Mar 104 (2): 162-9. Jamieson Sarra E, Cordell Heather, Petersen Eskild, McLeod Rima, Gilbert Ruth E, Blackwell Jenefer |
| Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis. Molecular genetics and metabolism 2012 Nov 107 (3): 580-5. Niida Yo, Kuroda Mondo, Mitani Yusuke, Okumura Akiko, Yokoi Aya |
| Ophthalmic and molecular genetic findings in Kniest dysplasia. Eye (London, England) 2015 Apr 29 (4): 475-82. Sergouniotis P I, Fincham G S, McNinch A M, Spickett C, Poulson A V, Richards A J, Snead M |
| Functional polymorphisms in asporin and CILP together with joint loading predispose to hand osteoarthritis. BMC genetics 2017 Dec 18 (1): 108. Taipale Mari, Solovieva Svetlana, Leino-Arjas Päivi, Männikkö Min |
| Genome-wide association study identifies COL2A1 locus involved in the hand development failure of Kashin-Beck disease. Scientific reports 2017 Jan 7 40020. Hao Jingcan, Wang Wenyu, Wen Yan, Xiao Xiao, He Awen, Wu Cuiyan, Wang Sen, Guo Xiong, Zhang Fe |
| Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly. Brain : a journal of neurology 2018 12 142 (1): 35-49. Kim Artem, Savary Clara, Dubourg Christèle, Carré Wilfrid, Mouden Charlotte, Hamdi-Rozé Houda, Guyodo Hélène, Douce Jerome Le, , , Pasquier Laurent, Flori Elisabeth, Gonzales Marie, Bénéteau Claire, Boute Odile, Attié-Bitach Tania, Roume Joelle, Goujon Louise, Akloul Linda, Odent Sylvie, Watrin Erwan, Dupé Valérie, de Tayrac Marie, David Véroniq |
| Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia. American journal of medical genetics. Part A 2019 2 179 (4): 534-541. Dasa Vinod, Eastwood James R B, Podgorski Michal, Park Heewon, Blackstock Christopher, Antoshchenko Tetyana, Rogala Piotr, Bieganski Tadeusz, Jazwinski S Michal, Czarny-Ratajczak Malwi |
| Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy. American journal of medical genetics. Part A 2019 12 182 (3): 454-460. Yamamoto Kenichi, Kubota Takuo, Takeyari Shinji, Kitaoka Taichi, Miyata Kei, Nakano Yukako, Nakayama Hirofumi, Ohata Yasuhisa, Yanagi Kumiko, Kaname Tadashi, Okada Yukinori, Ozono Keiic |
| High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1. Current eye research 2020 12 46 (7): 1051-1055. Rossenwasser-Weiss Shirel, Orenstein Naama, Zahavi Alon, Goldenberg-Cohen Nit |
| Common variants in the COL2A1 gene are associated with lattice degeneration of the retina in a Japanese population. Molecular vision 2019 25 843-850. Okazaki Shinya, Meguro Akira, Ideta Ryuichi, Takeuchi Masaki, Yonemoto Junichi, Teshigawara Takeshi, Yamane Takahiro, Okada Eiichi, Ideta Hidenao, Mizuki Nobuhi |
| Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes. European journal of human genetics : EJHG 2021 3 29 (12): 1745-1755. Fransen Erik, Valgaeren Hanne, Janssens Katleen, Sommen Manou, De Ridder Raphael, Vandeweyer Geert, Bisceglia Luigi, Soler Vincent, Hoischen Alexander, Mortier Geert, Malecaze François, Koppen Carina, Van Camp G |
| Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study. Frontiers in genetics 2022 3 13 828534. Lace Baiba, Pajusalu Sander, Livcane Diana, Grinfelde Ieva, Akota Ilze, Mauli?a Ieva, Bark?ne Biruta, Stavusis Janis, Inashkina In |
| Association of MTHFR rs1801133 and homocysteine with Legg-Calvé-Perthes disease in Mexican patients. Orphanet journal of rare diseases 2022 3 17 (1): 123. Buendía-Pazarán José Guillermo, Hernández-Zamora Edgar, Rodríguez-Olivas Armando O, Casas-Ávila Leonora, Valdés-Flores Margarita, Reyes-Maldonado El |
| Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia. Croatian medical journal 2024 6 65 (3): 198-208. Ivona Sansovi?, Ana-Maria Meaši?, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak, Katarina Vulin, Bernarda Lozi?, Mijana Kero, Sanda Huljev Frkovi?, Silvija Pušelj |
| Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family. Open life sciences 2024 5 19 (1): 20220853. Jinshui He, Shuyun Zhang, Yueya Kang, Yugui Zhang, Zhugui Zheng, Minyi Ru |
| Proteins Involved in Endothelial Function and Inflammation Are Implicated in Cerebral Small Vessel Disease. Stroke 2025 1 . Zihan Sun, Eric L Harshfield, Frank-Erik de Leeuw, Stephen Burgess, Adam S Butterworth, Niels P Riksen, Ziad Mallat, Hugh S Mark |
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