Human Genome Epidemiology Literature Finder
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Records 1 - 24 (of 24 Records) |
| Query Trace: Disease and PRPH2[original query] |
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| 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 |
| Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. Molecular vision 2016 22 150-60. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
| 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 |
| EYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings. Retina (Philadelphia, Pa.) 2018 Oct . Spaide Richard F, Yannuzzi Lawrence, Freund K Bailey, Mullins Robert, Stone Edw |
| A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. Genetics in medicine : official journal of the American College of Medical Genetics 2019 3 21 (10): 2336-2344. Wolock Charles J, Stong Nicholas, Ma Chu Jian, Nagasaki Takayuki, Lee Winston, Tsang Stephen H, Kamalakaran Sitharthan, Goldstein David B, Allikmets Ran |
| Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies. Ophthalmic genetics 2020 9 41 (6): 585-590. Çavdarli Cemal, Çavdarl? Bü?ranur, Alp Mehmet Num |
| Novel variants associated with Stargardt disease in Chinese patients. Gene 2020 6 754 144890. Hu Fangyuan, Gao Fengjuan, Li Jiankang, Xu Ping, Wang Dandan, Chen Fang, Zhang Shenghai, Wu Jiho |
| Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Human mutation 2020 6 41 (9): 1528-1539. Reeves Melissa J, Goetz Kerry E, Guan Bin, Ullah Ehsan, Blain Delphine, Zein Wadih M, Tumminia Santa J, Hufnagel Robert |
| Genetic factors associated with age-related macular degeneration: identification of a novel PRPH2 single nucleotide polymorphism associated with increased risk of the disease. Acta ophthalmologica 2020 Dec . Ula?czyk Zofia, Grabowicz Aleksandra, Mozolewska-Piotrowska Katarzyna, Safranow Krzysztof, Kawa Mi?osz Piotr, Pa?ucha Andrzej, Krawczyk Mariusz, Sikora Piotr, Matczy?ska Ewa, Machali?ski Bogus?aw, Machali?ska An |
| Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients. Genes 2021 6 12 (6): . Buhler Virginie M M, Berger Lieselotte, Schaller André, Zinkernagel Martin S, Wolf Sebastian, Escher Pasc |
| Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease. Bioscience reports 2021 5 41 (6): . Qu Ling-Hui, Jin Xin, Zeng Chao, Zhou Nian-Gou, Liu Yan-Hong, Lin |
| Peripheral pigmented lesions in ABCA4-associated retinopathy. Ophthalmic genetics 2021 3 42 (4): 383-391. Al-Ani Haya H, Sheck Leo, Vincent Andrea |
| 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 |
| Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy. JAMA ophthalmology 2021 Oct . de Breuk Anita, Heesterbeek Thomas J, Bakker Bjorn, Verzijden Timo, Lechanteur Yara T E, Klaver Caroline C W, den Hollander Anneke I, Hoyng Carel |
| Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. PLoS genetics 2022 3 18 (3): e1010129. Zernant Jana, Lee Winston, Wang Jun, Goetz Kerry, Ullah Ehsan, Nagasaki Takayuki, Su Pei-Yin, Fishman Gerald A, Tsang Stephen H, Tumminia Santa J, Brooks Brian P, Hufnagel Robert B, Chen Rui, Allikmets Ran |
| Novel IMPG2 variant causing adult macular vitelliform dystrophy: A case report. European journal of ophthalmology 2023 9 11206721231199850. Nicolò Ribarich, Maria Chiara Rivolta, Riccardo Sacconi, Giuseppe Querqu |
| Influence of Clinical and Genetic Factors on the Progression of Age-Related Macular Degeneration: A 3-Year Follow-Up. Journal of clinical medicine 2023 3 12 (5): . Krytkowska El?bieta, Ula?czyk Zofia, Grabowicz Aleksandra, Safranow Krzysztof, Kawa Mi?osz Piotr, Pa?ucha Andrzej, W?sowska Anna, Matczy?ska Ewa, Boguszewska-Chachulska Anna, Machali?ska An |
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 |
| Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies. Investigative ophthalmology & visual science 2024 5 65 (5): 9. Amit V Mishra, Sandra Vermeirsch, Siying Lin, Maria P Martin-Gutierrez, Mark Simcoe, Nikolas Pontikos, Elena Schiff, Thales A C de Guimarães, Pirro G Hysi, Michel Michaelides, Gavin Arno, Andrew R Webster, Omar A Mahr |
| Distinguishing ABCA4 from PRPH2-related disease: qualitative analysis of examination and imaging features. Ophthalmic genetics 2024 11 1-7. Kenneth C Fan, Calvin W Wong, Braden A Nichols, Roa Sadat, Troy C Becker, David M Brown, Charles C Wyko |
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