Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Retinitis Pigmentosa and PRPH2[original query] |
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Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960) 2009 Jun 127 (6): 784-90. Lim King Poo, Yip Shea Ping, Cheung Suk Chun, Leung Kam Wah, Lam Stephen T S, To Chi |
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa. Molecular vision 2012 18 2398-410. Kim Cinoo, Kim Kwang Joong, Bok Jeong, Lee Eun-Ju, Kim Dong-Joon, Oh Ji Hee, Park Sung Pyo, Shin Joo Young, Lee Jong-Young, Yu Hyeong G |
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 |
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. Journal of medical genetics 2013 Oct 50 (10): 674-88. Wang Xia, Wang Hui, Sun Vincent, Tuan Han-Fang, Keser Vafa, Wang Keqing, Ren Huanan, Lopez Irma, Zaneveld Jacques E, Siddiqui Sorath, Bowles Stephanie, Khan Ayesha, Salvo Jason, Jacobson Samuel G, Iannaccone Alessandro, Wang Feng, Birch David, Heckenlively John R, Fishman Gerald A, Traboulsi Elias I, Li Yumei, Wheaton Dianna, Koenekoop Robert K, Chen R |
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing. Molecular vision 2013 19 654-64. de Sousa Dias Miguel, Hernan Imma, Pascual Beatriz, Borràs Emma, Mañé Begoña, Gamundi Maria José, Carballo Migu |
Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort. Translational vision science & technology 2016 Mar 5 (2): 4. Ogino Ken, Oishi Akio, Oishi Maho, Gotoh Norimoto, Morooka Satoshi, Sugahara Masako, Hasegawa Tomoko, Miyata Manabu, Yoshimura Nagahi |
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population. Investigative ophthalmology & visual science 2015 Dec 56 (13): 8297-305. Coussa Razek Georges, Chakarova Christina, Ajlan Radwan, Taha Mohammed, Kavalec Conrad, Gomolin Julius, Khan Ayesha, Lopez Irma, Ren Huanan, Waseem Naushin, Kamenarova Kunka, Bhattacharya Shomi S, Koenekoop Robert |
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. PloS one 2017 1 12 (1): e0170038. Van Cauwenbergh Caroline, Coppieters Frauke, Roels Dimitri, De Jaegere Sarah, Flipts Helena, De Zaeytijd Julie, Walraedt Sophie, Claes Charlotte, Fransen Erik, Van Camp Guy, Depasse Fanny, Casteels Ingele, de Ravel Thomy, Leroy Bart P, De Baere Elfri |
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. Investigative ophthalmology & visual science 2018 5 59 (6): 2345-2354. Martin-Merida Inmaculada, Aguilera-Garcia Domingo, Fernandez-San Jose P, Blanco-Kelly Fiona, Zurita Olga, Almoguera Berta, Garcia-Sandoval Blanca, Avila-Fernandez Almudena, Arteche Ana, Minguez Pablo, Carballo Miguel, Corton Marta, Ayuso Carm |
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 |
Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan. Genes 2021 11 12 (11): . Oishi Akio, Fujinami Kaoru, Mawatari Go, Naoi Nobuhisa, Ikeda Yasuhiro, Ueno Shinji, Kuniyoshi Kazuki, Hayashi Takaaki, Kondo Hiroyuki, Mizota Atsushi, Shinoda Kei, Kusuhara Sentaro, Nakamura Makoto, Iwata Takeshi, Tsujikawa Akitaka, Tsunoda Kazushi |
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review. International journal of molecular sciences 2023 4 24 (7): . Wang Yingwei, Wang Junwen, Jiang Yi, Zhu Di, Ouyang Jiamin, Yi Zhen, Li Shiqiang, Jia Xiaoyun, Xiao Xueshan, Sun Wenmin, Wang Panfeng, Zhang Qingjio |
Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.
![]() PLoS genetics 2023 2 19 (2): e1010587. Currant Hannah, Fitzgerald Tomas W, Patel Praveen J, Khawaja Anthony P, , Webster Andrew R, Mahroo Omar A, Birney Ew |
- Page last reviewed:Feb 1, 2024
- Page last updated:Jun 24, 2024
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