HuGE Literature Finder
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Records 1-6
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Orphanet journal of rare diseases 2015 10 (1): 110. Jiang Lichun, Liang Xiaofang, Li Yumei, Wang Jing, Zaneveld Jacques Eric, Wang Hui, Xu Shan, Wang Keqing, Wang Binbin, Chen Rui, Sui Ruifa |
Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
The Journal of molecular diagnostics : JMD 2014 Nov 16 (6): 673-8. Perreault-Micale Cynthia, Frieden Alexander, Kennedy Caleb J, Neitzel Dana, Sullivan Jessica, Faulkner Nicole, Hallam Stephanie, Greger Valer |
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Orphanet journal of rare diseases 2014 9 168. Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José |
A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.
Human genetics 2010 Jan 127 (1): 83-9. Huertas-Vazquez Adriana, Plaisier Christopher L, Geng Ruishuang, Haas Blake E, Lee Jenny, Greevenbroek Marleen M, van der Kallen Carla, de Bruin Tjerk W A, Taskinen Marja-Riitta, Alagramam Kumar N, Pajukanta Päi |
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.
Pediatric research 2004 Jun 55 (6): 995-1000. Brownstein Zippora, Ben-Yosef Tamar, Dagan Orit, Frydman Moshe, Abeliovich Dvorah, Sagi Michal, Abraham Fabian A, Taitelbaum-Swead Riki, Shohat Mordechai, Hildesheimer Minka, Friedman Thomas B, Avraham Karen |
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