HuGE Literature Finder
Records 1-7
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RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.
American journal of medical genetics. Part C, Seminars in medical genetics 2020 Sep . Fujinami Kaoru, Liu Xiao, Ueno Shinji, Mizota Atsushi, Shinoda Kei, Kuniyoshi Kazuki, Fujinami-Yokokawa Yu, Yang Lizhu, Arno Gavin, Pontikos Nikolas, Kameya Shuhei, Kominami Taro, Terasaki Hiroko, Sakuramoto Hiroyuki, Nakamura Natsuko, Kurihara Toshihide, Tsubota Kazuo, Miyake Yozo, Yoshiake Kazutoshi, Iwata Takeshi, Tsunoda Kazushige, |
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Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
European journal of ophthalmology 2016 Oct 0. Parmeggiani Francesco, Barbaro Vanessa, Migliorati Angelo, Raffa Paolo, Nespeca Patrizia, De Nadai Katia, Del Vecchio Claudia, Palù Giorgio, Parolin Cristina, Di Iorio En |
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Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.
Investigative ophthalmology & visual science 2015 Apr 56 (4): 2173-82. Fernandez-San Jose Patricia, Corton Marta, Blanco-Kelly Fiona, Avila-Fernandez Almudena, Lopez-Martinez Miguel Angel, Sanchez-Navarro Iker, Sanchez-Alcudia Rocio, Perez-Carro Raquel, Zurita Olga, Sanchez-Bolivar Noelia, Lopez-Molina Maria Isabel, Garcia-Sandoval Blanca, Riveiro-Alvarez Rosa, Ayuso Carm |
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Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2013 Sep 54 (9): 6255-61. Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen |
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Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Investigative ophthalmology & visual science 2012 Nov . Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A |
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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Human mutation 2007 Jan 28 (1): 81-91. Pelletier Valérie, Jambou Marguerite, Delphin Nathalie, Zinovieva Elena, Stum Morgane, Gigarel Nadine, Dollfus Hélène, Hamel Christian, Toutain Annick, Dufier Jean-Louis, Roche Olivier, Munnich Arnold, Bonnefont Jean-Paul, Kaplan Josseline, Rozet Jean-Mich |
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RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
American journal of human genetics 2003 Nov 73 (5): 1131-46. Sharon Dror, Sandberg Michael A, Rabe Vivian W, Stillberger Melissa, Dryja Thaddeus P, Berson Eliot |
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- Page last updated:Jan 19, 2021
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