Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Syndrome and COL2A1[original query] |
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The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genetics in medicine : official journal of the American College of Medical Genetics 2003 1 5 (1): 21-7. Liberfarb Ruth M, Levy Howard P, Rose Peter S, Wilkin Douglas J, Davis Joie, Balog Joan Z, Griffith Andrew J, Szymko-Bennett Yvonne M, Johnston Jennifer J, Francomano Clair A, Tsilou Ekaterina, Rubin Benhamin |
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 |
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 |
Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment. Human mutation 2016 Jul . Spickett Carl, Hysi Pirro, Hammond Chistopher J, Prescott Alan, Fincham Gregory S, Poulson Arabella V, McNinch Annie M, Richards Allan J, Snead Martin |
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 |
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 |
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 |
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 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 |
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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