Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Syndrome and COL11A1[original query] |
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Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice. Hearing research 2003 1 175 (1-2): 178-82. Szymko-Bennett Yvonne M, Kurima Kiyoto, Olsen Bjorn, Seegmiller Robert, Griffith Andrew |
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. Molecular vision 2016 22 697-704. Wang Xun, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Li Jie, Li Yadi, Wei Yantao, Liang Xiaoling, Guo Xiangmi |
Carpal tunnel syndrome: The role of collagen gene variants. Gene 2016 Apr . Dada Suhail, Burger Marilize C, Massij Franka, de Wet Hanli, Collins Malco |
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2016 Jan . Acke Frederic R, Swinnen Freya K, Malfait Fransiska, Dhooge Ingeborg J, De Leenheer Els M |
Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome. The Turkish journal of pediatrics 2018 7 59 (6): 619-624. Çetinkaya Arda, Ta?k?ran Ekim, Soyer Tutku, ?im?ek-Kiper Pelin Özlem, Utine Gülen Eda, Tunçbilek Gökhan, Boduro?lu Koray, Alika?ifo?lu Mehm |
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 |
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
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 |
A genotype-first analysis in a cohort of Mullerian anomaly. Journal of human genetics 2022 1 67 (6): 347-352. Tian Weijie, Chen Na, Ye Yang, Ma Congcong, Qin Chenglu, Niu Yuchen, Xiaoxin L, Zhao Lina, Zhao Hengqiang, Liang Ze, Song Shuang, Wang Yuan, Chen Zefu, Lin Jiachen, Yan Zihui, Duan Jiali, Zhao Sen, Zhang Terry Jianguo, Qiu Guixing, Wu Zhihong, Wu Nan, Zhu L |
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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