HuGE Literature Finder
Records 1-6
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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 |
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Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Apr 17 (4): 307-11. Huang Xiu-Feng, Wu Juan, Lv Ji-Neng, Zhang Xiao, Jin Zi-Bi |
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Ophthalmology 2012 Apr 119 (4): 819-26. Thiadens Alberta A H J, Phan T My Lan, Zekveld-Vroon Renate C, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B, Klaver Caroline C W, , Roosing Susanne, Pott Jan-Willem R, van Schooneveld Mary J, van Moll-Ramirez Norka, van Genderen Maria M, Boon Camiel J F, den Hollander Anneke I, Bergen Arthur A B, De Baere Elfride, Cremers Frans P M, Lotery Andrew |
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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 |
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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 |
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Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
Investigative ophthalmology & visual science 2007 Mar 48 (3): 1298-304. Sandberg Michael A, Rosner Bernard, Weigel-DiFranco Carol, Dryja Thaddeus P, Berson Eliot |
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- Page last updated:Feb 24, 2021
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