HuGE Literature Finder
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Records 1-5
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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 |
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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
European journal of human genetics : EJHG 2014 Jan 22 (1): 99-104. Glöckle Nicola, Kohl Susanne, Mohr Julia, Scheurenbrand Tim, Sprecher Andrea, Weisschuh Nicole, Bernd Antje, Rudolph Günther, Schubach Max, Poloschek Charlotte, Zrenner Eberhart, Biskup Saskia, Berger Wolfgang, Wissinger Bernd, Neidhardt Jo |
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Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
Genetics and molecular research : GMR 2014 13 (4): 8815-33. Pierrottet C O, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti L M, Cecchin S, Orzalesi N, Bertelli |
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High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa.
Investigative ophthalmology & visual science 2012 Feb 53 (2): 1033-40. Iwanami Masaki, Oshikawa Mio, Nishida Tomomi, Nakadomari Satoshi, Kato Seis |
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EYS is a major gene for rod-cone dystrophies in France.
Human mutation 2010 May 31 (5): E1406-35. Audo Isabelle, Sahel José-Alain, Mohand-Saïd Saddek, Lancelot Marie-Elise, Antonio Aline, Moskova-Doumanova Veselina, Nandrot Emeline F, Doumanov Jordan, Barragan Isabel, Antinolo Guillermo, Bhattacharya Shomi S, Zeitz Christi |
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- Page last updated:Dec 5, 2019
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