HuGE Literature Finder
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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 |
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 |
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 |
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 |
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 |
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 |
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