Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Disease and TYRP1[original query] |
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| Polymorphisms in OPA1 are associated with normal tension glaucoma. Molecular vision 2003 Sep 9 (): 460-4. Powell Brenda L, Toomes Carmel, Scott Shiela, Yeung Anna, Marchbank Nicola J, Spry Paul G D, Lumb Rosemary, Inglehearn Christopher F, Churchill Amanda |
| Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Human mutation 2004 1 23 (2): 106-110. Rundshagen Uta, Zühlke Christine, Opitz Sven, Schwinger Eberhard, Käsmann-Kellner Barba |
| Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. Pigment cell & melanoma research 2017 10 31 (2): 318-329. Marti Aurélie, Lasseaux Eulalie, Ezzedine Khaled, Léauté-Labrèze Christine, Boralevi Franck, Paya Clément, Coste Valentine, Deroissart Vincent, Arveiler Benoit, Taieb Alain, Morice-Picard Fan |
| Rare germline variants in known melanoma susceptibility genes in familial melanoma. Human molecular genetics 2017 Oct . Goldstein Alisa M, Xiao Yanzi, Sampson Joshua, Zhu Bin, Rotunno Melissa, Bennett Hunter, Wen Yixuan, Jones Kristine, Vogt Aurelie, Burdette Laurie, Luo Wen, Zhu Bin, Yeager Meredith, Hicks Belynda, Han Jiali, De Vivo Immaculata, Koutros Stella, Andreotti Gabriella, Beane-Freeman Laura, Purdue Mark, Freedman Neal D, Chanock Stephen J, Tucker Margaret A, Yang Xiaohong |
| Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels. PloS one 2018 13 (3): e0193893. Nair-Shalliker Visalini, Egger Sam, Chrzanowska Agata, Mason Rebecca, Waite Louise, Le Couteur David, Seibel Markus J, Handelsman David J, Cumming Robert, Smith David P, Armstrong Bruce |
| [Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 7 37 (7): 725-730. Wang Conghui, Chen Chen, Zhao Xuechao, Zhao Ganye, Liu Lina, Kong Xiangdo |
Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population.
Frontiers in genetics 2022 8 13 911010. Zecevic Marko, Kotur Nikola, Ristivojevic Bojan, Gasic Vladimir, Skodric-Trifunovic Vesna, Stjepanovic Mihailo, Stevanovic Goran, Lavadinovic Lidija, Zukic Branka, Pavlovic Sonja, Stankovic Bilja |
| NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
| Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.
Genes 2023 1 14 (1): . Farré Xavier, Blay Natalia, Cortés Beatriz, Carreras Anna, Iraola-Guzmán Susana, de Cid Rafa |
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