Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: PRPH[original query] |
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A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. The Journal of biological chemistry 2004 Oct 279 (44): 45951-6. Gros-Louis François, Larivière Roxanne, Gowing Geneviève, Laurent Sandra, Camu William, Bouchard Jean-Pierre, Meininger Vincent, Rouleau Guy A, Julien Jean-Pier |
[Variation of the peripherin gene in Chinese with or without high myopia]. Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2002 Sep 24 (5): 523-6. Li J, Zhang QJ, Fu R, Xiao XS, Li JZ, Zhang FS, Li SQ, Li W, Li T, Jia XY, Guo L, Guo XM |
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. Genome research 2016 Dec . Keogh Michael J, Wei Wei, Wilson Ian, Coxhead Jon, Ryan Sarah, Rollinson Sara, Griffin Helen, Kurzawa-Akanbi Marzena, Santibanez-Koref Mauro, Talbot Kevin, Turner Martin R, McKenzie Chris-Anne, Troakes Claire, Attems Johannes, Smith Colin, Al Sarraj Safa, Morris Chris M, Ansorge Olaf, Pickering-Brown Stuart, Ironside James W, Chinnery Patrick |
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.
Nature communications 2019 Apr 10 (1): 1777. Bjornsdottir Gyda, Ivarsdottir Erna V, Bjarnadottir Kristbjorg, Benonisdottir Stefania, Gylfadottir Sandra Sif, Arnadottir Gudny A, Benediktsson Rafn, Halldorsson Gisli Hreinn, Helgadottir Anna, Jonasdottir Adalbjorg, Jonasdottir Aslaug, Jonsdottir Ingileif, Kristinsdottir Anna Margret, Magnusson Olafur Th, Masson Gisli, Melsted Pall, Rafnar Thorunn, Sigurdsson Asgeir, Sigurdsson Gunnar, Skuladottir Astros, Steinthorsdottir Valgerdur, Styrkarsdottir Unnur, Thorgeirsson Gudmundur, Thorleifsson Gudmar, Vikingsson Arnor, Gudbjartsson Daniel F, Holm Hilma, Stefansson Hreinn, Thorsteinsdottir Unnur, Norddahl Gudmundur L, Sulem Patrick, Thorgeirsson Thorgeir E, Stefansson Ka |
Molecular testing on bronchial washings for the diagnosis and predictive assessment of lung cancer. Molecular oncology 2020 5 14 (9): 2163-2175. Roncarati Roberta, Lupini Laura, Miotto Elena, Saccenti Elena, Mascetti Susanna, Morandi Luca, Bassi Cristian, Rasio Debora, Callegari Elisa, Conti Valentina, Rinaldi Rosa, Lanza Giovanni, Gafà Roberta, Papi Alberto, Frassoldati Antonio, Sabbioni Silvia, Ravenna Franco, Casoni Gian L, Negrini Massi |
Peripheral pigmented lesions in ABCA4-associated retinopathy. Ophthalmic genetics 2021 3 42 (4): 383-391. Al-Ani Haya H, Sheck Leo, Vincent Andrea |
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- Page last updated:Apr 29, 2024
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