Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Blindness and RPGRIP1[original query] |
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| Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. PloS one 2011 6 (8): e23021. Fahim Abigail T, Bowne Sara J, Sullivan Lori S, Webb Kaylie D, Williams Jessica T, Wheaton Dianna K, Birch David G, Daiger Stephen |
| Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. European journal of human genetics : EJHG 2011 Apr 19 (4): 445-51. Fernández-Martínez Lorena, Letteboer Stef, Mardin Christian Y, Weisschuh Nicole, Gramer Eugen, Weber Bernhard Hf, Rautenstrauss Bernd, Ferreira Paulo A, Kruse Friedrich E, Reis André, Roepman Ronald, Pasutto Frances |
| Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration. Mammalian genome : official journal of the International Mammalian Genome Society 2016 Mar . Forman Oliver P, Hitti Rebekkah J, Boursnell Mike, Miyadera Keiko, Sargan David, Mellersh Cathr |
| Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. American journal of medical genetics. Part C, Seminars in medical genetics 2020 9 184 (3): 728-752. Sallum Juliana Maria Ferraz, Motta Fabiana Louise, Arno Gavin, Porto Fernanda Belga Ottoni, Resende Rosane Guazi, Belfort Rube |
| Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). Orphanet journal of rare diseases 2020 Dec 15 (1): 345. Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczy?ski Maciej Robe |
| Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. Ophthalmic genetics 2021 5 42 (4): 392-401. Zhu Luyao, Ouyang Wangbin, Zhang Minfang, Wang Hao, Li Shiying, Meng Xiaohong, Yin Zheng Q |
| Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort. Journal of ophthalmology 2021 11 2021 9966427. Mao Yumei, Long Yanling, Liu Bo, Cao Qingling, Li Yijian, Li Sha, Wang Gang, Meng Xiaohong, Li Shiyi |
| Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. Journal of applied genetics 2022 11 64 (1): 89-104. Skorczyk-Werner Anna, Sowi?ska-Seidler Anna, Wawrocka Anna, Walczak-Sztulpa Joanna, Krawczy?ski Maciej Robe |
- Page last reviewed:Feb 1, 2024
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