Human Genome Epidemiology Literature Finder
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Records 1 - 5 (of 5 Records) |
| Query Trace: Retinal Degeneration 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 |
| 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 |
| Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
| Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. Genetics in medicine : official journal of the American College of Medical Genetics 2018 8 21 (3): 694-704. Jamshidi Farzad, Place Emily M, Mehrotra Sudeep, Navarro-Gomez Daniel, Maher Mathew, Branham Kari E, Valkanas Elise, Cherry Timothy J, Lek Monkol, MacArthur Daniel, Pierce Eric A, Bujakowska Kinga |
| 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 |
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