HuGE Literature Finder
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The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified. Acta ophthalmologica 2019 May . Avela Kristiina, Salonen-Kajander Riitta, Laitinen Arja, Ramsden Simon, Barton Stephanie, Rudanko Sirkka-Lii |
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 |
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 |
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. Molecular vision 2009 15 1781-7. Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin |
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