Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 80 Records) |
Query Trace: COL2A1[original query] |
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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 |
Insights into the genetic basis of retinal detachment.
Human molecular genetics 2020 Mar 29 (4): 689-702. Boutin Thibaud S, Charteris David G, Chandra Aman, Campbell Susan, Hayward Caroline, Campbell Archie, , Nandakumar Priyanka, Hinds David, , Mitry Danny, Vitart Veroniq |
Electroretinograms of eyes with Stickler syndrome. Documenta ophthalmologica. Advances in ophthalmology 2019 11 140 (3): 233-243. Kondo Hiroyuki, Fujimoto Kazushi, Imagawa Mamika, Oku Kazuma, Matsushita Itsuka, Hayashi Takaaki, Nagata Tats |
Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment. Genes 2020 8 11 (8): . Huang Li, Chen Chonglin, Wang Zhirong, Sun Limei, Li Songshan, Zhang Ting, Luo Xiaoling, Ding Xiaoy |
Systematic Review and Meta-Analysis of Candidate Gene Association Studies With Fracture Risk in Physically Active Participants. Frontiers in genetics 2020 7 11 551. Ryan-Moore Edward, Mavrommatis Yiannis, Waldron Ma |
Gene testing for osteonecrosis of the femoral head in systemic lupus erythematosus using targeted next-generation sequencing: A pilot study. World journal of clinical cases 2020 7 8 (12): 2530-2541. Sun Hong-Sheng, Yang Qing-Rui, Bai Yan-Yan, Hu Nai-Wen, Liu Dong-Xia, Qin Cheng-Yo |
The genetic profile of elite youth soccer players and its association with power and speed depends on maturity status. PloS one 2020 6 15 (6): e0234458. Murtagh Conall F, Brownlee Thomas E, Rienzi Edgardo, Roquero Sebastian, Moreno Sacha, Huertas Gustavo, Lugioratto Giovani, Baumert Philipp, Turner Daniel C, Lee Dongsun, Dickinson Peter, Lyon K Amber, Sheikhsaraf Bahare, Biyik Betül, O'Boyle Andrew, Morgans Ryland, Massey Andrew, Drust Barry, Erskine Robert |
Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa. Experimental eye research 2020 6 197 108118. Liu Xing, Li Jiali, Lin Shufen, Xiao Xueshan, Luo Jingyi, Wei Wei, Ling Yunlan, Fang Lei, Xiao Hui, Chen Liming, Huang Jingjing, Zhong Yimin, Zhang Qingjio |
Multiple variants in collagen genes are associated with the susceptibility to lumbar disc herniation in the Chinese population. 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 2020 Feb . Yang Xuejun, Jia Haiyu, Xing Wenhua, Li Feng, Li Manglai, Sun Ke, Zhu Yo |
Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review. BMC medical genetics 2020 Feb 21 (1): 27. Wang Dan-Dan, Gao Feng-Juan, Hu Fang-Yuan, Zhang Sheng-Hai, Xu Ping, Wu Ji-Ho |
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 |
Genomic Profiling of Low-grade Intramedullary Cartilage Tumors Can Distinguish Enchondroma From Chondrosarcoma. The American journal of surgical pathology 2020 11 45 (6): 812-819. Joseph Nancy M, McGill Kevin C, Horvai Andrew |
Polymorphisms in COL2A1 gene in Adolescents with Temporomandibular Disorders. The Journal of clinical pediatric dentistry 2020 Sep 44 (5): 364-372. do Nascimento Rechia Bruna Cristina, Michels Bruna, Faturri Aluhe Lopes, de Paiva Bertoli Fernanda Mara, Scariot Rafaela, de Souza Juliana Feltrin, Küchler Erika Calvano, Brancher João Arman |
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 |
COL2A1 protective variant reduces sporadic rhegmatogenous retinal detachment severity. Experimental eye research 2019 Dec 191 107907. Ng Tsz Kin, Chen Wanghao, Chen Qianwen, Zheng Yuqian, Xu Yanxuan, Chen Weiqi, Zhang Guihua, Chen Jianhuan, Pang Chi Pui, Chen Hao |
Prognostic impact of IDH mutations in chondrosarcoma. Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 2021 Sep . Nakagawa Makoto, Sekimizu Masaya, Endo Makoto, Kobayashi Eisuke, Iwata Shintaro, Fukushima Suguru, Yoshida Akihiko, Kitabayashi Issay, Ichikawa Hitoshi, Kawai Akira, Nakatani Fumihi |
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies. European journal of endocrinology 2021 9 185 (5): 691-705. Sentchordi-Montané Lucía, Benito-Sanz Sara, Aza-Carmona Miriam, Díaz-González Francisca, Modamio-Høybjør Silvia, de la Torre Carolina, Nevado Julián, Ruiz-Ocaña Pablo, Bezanilla-López Carolina, Prieto Pablo, Bahíllo-Curieses Pilar, Carcavilla Atilano, Mulero-Collantes Inés, Barreda-Bonis Ana C, Cruz-Rojo Jaime, Ramírez-Fernández Joaquín, Bermúdez de la Vega José Antonio, Travessa André M, González de Buitrago Amigo Jesús, Del Pozo Angela, Vallespín Elena, Solís Mario, Goetz Carlos, Campos-Barros Ángel, Santos-Simarro Fernando, González-Casado Isabel, Ros-Pérez Purificación, Parrón-Pajares Manuel, Heath Karen |
Bioinformatics-Based Identification of Tumor Microenvironment-Related Prognostic Genes in Pancreatic Cancer. Frontiers in genetics 2021 12 632803. Chen Shaojie, Huang Feifei, Chen Shangxiang, Chen Yinting, Li Jiajia, Li Yaqing, Lian Guoda, Huang Kaiho |
Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility. Cancers 2021 May 13 (11): . Yepes Sally, Shah Nirav N, Bai Jiwei, Koka Hela, Li Chuzhong, Gui Songbai, McMaster Mary Lou, Xiao Yanzi, Jones Kristine, Wang Mingyi, Vogt Aurelie, Zhu Bin, Zhu Bin, Hutchinson Amy, Yeager Meredith, Hicks Belynda, Carter Brian, Freedman Neal D, Beane-Freeman Laura, Chanock Stephen J, Zhang Yazhuo, Parry Dilys M, Yang Xiaohong R, Goldstein Alisa |
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 |
Genetic and serum markers in adult degenerative scoliosis: a literature review. Spine deformity 2021 11 10 (3): 479-488. Akbik Omar S, Ban V S, MacAllister Matthew C, Aoun Salah G, Bagley Carlos |
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1. Genes 2021 10 12 (10): . Choi Soon-Il, Woo Se-Joon, Oh Baek-Lok, Han Jinu, Lim Hyun-Taek, Lee Byung-Joo, Joo Kwangsic, Park Jun-Young, Jang Ja-Hyun, So Min-Kyung, Kim Sang-J |
Influence of COL2A1-G1405S polymorphism on mandibular skeletal malocclusions: A genetic association study and in silico analysis. Archives of oral biology 2022 7 142 105500. Kalmari Amin, Arash Valiollah, Colagar Abasalt Hosseinzad |
Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita. Human genome variation 2022 5 9 (1): 16. Akahira-Azuma Moe, Enomoto Yumi, Nakamura Naoyuki, Yokoi Takayuki, Minatogawa Mari, Harada Noriaki, Tsurusaki Yoshinori, Kurosawa Ken |
Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH. Frontiers in endocrinology 2022 3 13 820001. Chen Meiping, Miao Hui, Liang Hanting, Ke Xiaoan, Yang Hongbo, Gong Fengying, Wang Linjie, Duan Lian, Chen Shi, Pan Hui, Zhu Huiju |
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 |
Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities. Gene 2023 10 892 147881. Z Spurná, P ?apková, L Punová, J DuchoslavovÁ, D Aleksijevic, P Venhá?ová, J Srovnal, J Štellmachová, V Curtisová, V Bitnerová, J Pet?ková, K Kola?íková, M Janíková, R Kratochvílová, P Vrt?l, R Vodi?ka, R Vrt?l, J Zapletalo |
Mutation survey in Taiwanese patients with Stickler syndrome. Taiwan journal of ophthalmology 2023 1 12 (4): 423-429. Huang Faye, Wang Tzu-Jou, Cho Wan-Hua, Chen Yi-Hao, Wu Pei-Chang, Kuo Hsi-Ku |
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia. Journal of translational medicine 2024 1 22 (1): 75. Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha |
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- Page last updated:Mar 25, 2024
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