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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 10, 2023. (Total: 223917Documents)
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Records 1 - 13 (of 13 Records)

Query Trace: Retinitis Pigmentosa and RP2[original query]
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
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
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
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
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
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
Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency.
Fertility and sterility 2018 Aug 110 (3): 476-485.e1.
Miranda-Furtado Cristiana L, Luchiari Heloise R, Chielli Pedroso Daiana C, Kogure Gislaine S, Caetano Lisandra C, Santana Bárbara A, Santana Viviane P, Benetti-Pinto Cristina L, Reis Fernando M, Maciel Mariella A, Ferriani Rui A, Ramos Ester S, Calado Rodrigo T, Dos Reis Rosana
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
PloS one 2018 12 13 (12): e0207958.
Birtel Johannes, Gliem Martin, Mangold Elisabeth, Müller Philipp L, Holz Frank G, Neuhaus Christine, Lenzner Steffen, Zahnleiter Diana, Betz Christian, Eisenberger Tobias, Bolz Hanno J, Charbel Issa Pet
Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole?exome sequencing.
Molecular medicine reports 2018 10 18 (6): 5016-5022.
Fu Yue-Chuan, Chen Na, Qiu Zi-Long, Liu Lin, Shen J
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.
International journal of molecular sciences 2019 3 20 (6): .
Kurata Kentaro, Hosono Katsuhiro, Hayashi Takaaki, Mizobuchi Kei, Katagiri Satoshi, Miyamichi Daisuke, Nishina Sachiko, Sato Miho, Azuma Noriyuki, Nakano Tadashi, Hotta Yoshihi
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
The British journal of ophthalmology 2019 10 104 (7): 932-937.
Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya
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,
Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.
Eye (London, England) 2022 1 37 (2): 350-355.
Saeed Omar Babar, Traboulsi Elias I, Coussa Razek Georg
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