Human Genome Epidemiology Literature Finder
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Records 1 - 21 (of 21 Records) |
| Query Trace: Disease and OCA2[original query] |
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| 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 |
| Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? Medical hypotheses 2012 Dec 79 (6): 875-8. Tuli Abbas M, Valenzuela Robert K, Kamugisha Erasmus, Brilliant Murray |
Novel Genetic Loci Associated With Retinal Microvascular Diameter.
Circulation. Cardiovascular genetics 2016 Feb 9 (1): 45-54. Jensen Richard A, Sim Xueling, Smith Albert Vernon, Li Xiaohui, Jakobsdóttir Jóhanna, Cheng Ching-Yu, Brody Jennifer A, Cotch Mary Frances, Mcknight Barbara, Klein Ronald, Wang Jie Jin, Kifley Annette, Harris Tamara B, Launer Lenore J, Taylor Kent D, Klein Barbara E K, Raffel Leslie J, Li Xiang, Ikram M Arfan, Klaver Caroline C, van der Lee Sven J, Mutlu Unal, Hofman Albert, Uitterlinden André G, Liu Chunyu, Kraja Aldi T, , Mitchell Paul, Gudnason Vilmundur, Rotter Jerome I, Boerwinkle Eric, van Duijn Cornelia M, Psaty Bruce M, Wong Tien |
| 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 |
| Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.
Human molecular genetics 2018 May . Aponte Jennifer L, Chiano Mathias N, Yerges-Armstrong Laura M, Hinds David A, Tian Chao, Gupta Akansha, Guo Cong, Fraser Dana J, Freudenberg Johannes M, Rajpal Deepak K, Ehm Margaret G, Waterworth Dawn |
| 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 |
| OCA2 rs4778137 polymorphism predicts survival of breast cancer patients receiving neoadjuvant chemotherapy. Gene 2018 Apr 651 161-165. Li Xiao-Ping, Lan Jian-Yun, Liu Dong-Qin, Zhou Hang, Qian Miao-Miao, Wang Wei-Wei, Yang M |
| Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing. Genetic testing and molecular biomarkers 2018 2 22 (4): 252-258. Qiu Biyuan, Ma Tao, Peng Chunyan, Zheng Xiaoqin, Yang Jiy |
| Clinical and genetic variability in children with partial albinism. Scientific reports 2019 11 9 (1): 16576. Campbell Patrick, Ellingford Jamie M, Parry Neil R A, Fletcher Tracy, Ramsden Simon C, Gale Theodora, Hall Georgina, Smith Katherine, Kasperaviciute Dalia, Thomas Ellen, Lloyd I Chris, Douzgou Sofia, Clayton-Smith Jill, Biswas Susmito, Ashworth Jane L, Black Graeme C M, Sergouniotis Panagiotis |
| Functional annotation of melanoma risk loci identifies novel susceptibility genes. Carcinogenesis 2019 Oct . Fang Shenying, Lu Jiachun, Zhou Xinke, Wang Yuling, Ross Merrick I, Gershenwald Jeffrey E, Cormier Janice N, Wargo Jennifer, Sui Dawen, Amos Christopher I, Lee Jeffrey |
| Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients. Journal of the European Academy of Dermatology and Venereology : JEADV 2019 Jan . Rayner J E, McMeniman E K, Duffy D L, De'Ambrosis B, Smithers B M, Jagirdar K, Lee K J, Soyer H P, Sturm R |
| Mitochondrial and Nuclear Mitochondrial Variants in Allergic Diseases. Allergy, asthma & immunology research 2020 Sep 12 (5): 877-884. Jang Haerin, Kim Mina, Hong Jung Yeon, Cho Hyung Ju, Kim Chang Hoon, Kim Yoon Hee, Sohn Myung Hyun, Kim Kyung W |
| [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 |
| Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism. Ophthalmic genetics 2021 7 42 (5): 539-552. Dumitrescu Alina V, Tran Johnny, Pfeifer Wanda, Bhattarai Sajag V, Kemerley Andrew, Dunn Taylor V, Wang Kai, Scheetz Tod E, Drack Arle |
| Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2021 Jun . Margaritte-Jeannin Patricia, Budu-Aggrey Ashley, Ege Markus, Madore Anne-Marie, Linhard Christophe, Mohamdi Hamida, von Mutius Erika, Granell Raquel, Demenais Florence, Laprise Catherine, Bouzigon Emmanuelle, Dizier Marie-Hélè |
| 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 |
| Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population. Genes 2023 1 14 (1): . Chan Kyle S, Bohnsack Brenda L, Ing Alexander, Drackley Andy, Castelluccio Valerie, Zhang Kevin X, Ralay-Ranaivo Hanta, Rossen Jennifer |
| 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 |
| The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism. Nature communications 2024 9 15 (1): 8436. David J Green, Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, , Tomas Fitzgerald, Ewan Birney, Graeme C Black, Benoît Arveiler, Panagiotis I Sergouniot |
| Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India. Molecular biology reports 2024 7 51 (1): 818. Tithi Dutta, Kausik Ganguly, Arpan Saha, Asim Sil, Kunal Ray, Mainak Sengup |
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