Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Albinism and SLC45A2[original query] |
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| SLC45A2: a novel malignant melanoma-associated gene. Human mutation 2008 Sep 29 (9): 1161-7. Fernandez L P, Milne R L, Pita G, Avilés J A, Lázaro P, Benítez J, Ribas |
| Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. The Journal of investigative dermatology 2008 Oct 128 (10): 2442-50. Hutton Saunie M, Spritz Richard |
| Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. The Journal of investigative dermatology 2010 Feb 130 (2): 520-8. Duffy David L, Zhao Zhen Z, Sturm Richard A, Hayward Nicholas K, Martin Nicholas G, Montgomery Grant |
| A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. The Journal of investigative dermatology 2010 Mar 130 (3): 716-24. Wei Aihua, Wang Yu, Long Yan, Wang Yi, Guo Xiaoli, Zhou Zhiyong, Zhu Wei, Liu Juntao, Bian Xuming, Lian Shi, Li W |
| Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. Journal of dermatological science 2011 May 62 (2): 124-7. Wei Aihua, Yang Xiumin, Lian Shi, Li W |
| SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. Gene 2014 Jan 533 (1): 398-402. Mauri Lucia, Barone Luca, Al Oum Muna, Del Longo Alessandra, Piozzi Elena, Manfredini Emanuela, Stanzial Franco, Benedicenti Francesco, Penco Silvana, Patrosso Maria Cristi |
| Genetic analyses of Chinese patients with digenic oculocutaneous albinism. Chinese medical journal 2013 Jan 126 (2): 226-30. Wei Ai-Hua, Yang Xiu-Min, Lian Shi, Li W |
| Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. Journal of dermatological science 2015 Jan 77 (1): 21-7. Kondo Taisuke, Namiki Takeshi, Coelho Sergio G, Valencia Julio C, Hearing Vincent |
| Case Report Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing. Genetics and molecular research : GMR 2016 Sep 15 (3): . Xue J J, Xue J F, Xue H Q, Guo Y Y, Liu Y, Ouyang |
| Clinical evaluation and molecular screening of a large consecutive series of albino patients. Journal of human genetics 2016 Oct . Mauri Lucia, Manfredini Emanuela, Del Longo Alessandra, Veniani Emanuela, Scarcello Manuela, Terrana Roberta, Radaelli Adriano Egidio, Calò Donata, Mingoia Giuseppe, Rossetti Antonella, Marsico Giovanni, Mazza Marco, Gesu Giovanni Pietro, Cristina Patrosso Maria, Penco Silvana, Piozzi Elena, Primignani Pao |
| 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 |
| A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients. Pigment cell & melanoma research 2018 Jul . Okamura Ken, Hayashi Masahiro, Nakajima Osamu, Kono Michihiro, Abe Yuko, Hozumi Yutaka, Suzuki Tam |
| 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 |
| Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1. Current medical science 2018 10 38 (5): 932-936. Wang Yan, Zhou Yi-Fan, Shen Na, Zhu Yao-Wu, Tan Kun, Wang Xio |
| Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma. Pigment cell & melanoma research 2019 Jun . Nathan Vaishnavi, Johansson Peter A, Palmer Jane M, Howlie Madeleine, Hamilton Hayley R, Wadt Karin, Jönsson Göran, Brooks Kelly M, Pritchard Antonia L, Hayward Nicholas |
| Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants. PloS one 2020 9 15 (9): e0238529. Rayner Jenna E, Duffy David L, Smit Darren J, Jagirdar Kasturee, Lee Katie J, De'Ambrosis Brian, Smithers B Mark, McMeniman Erin K, McInerney-Leo Aideen M, Schaider Helmut, Stark Mitchell S, Soyer H Peter, Sturm Richard |
| SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation. Molecular biology of the cell 2020 9 31 (24): 2687-2702. Le Linh, Escobar Iliana E, Ho Tina, Lefkovith Ariel J, Latteri Emily, Haltaufderhyde Kirk D, Dennis Megan K, Plowright Lynn, Sviderskaya Elena V, Bennett Dorothy C, Oancea Elena, Marks Michael |
| [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 |
| Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism. Acta chimica Slovenica 2021 12 68 (3): 683-692. Hovnik Tinka, Debeljak Maruša, Tekav?i? Pompe Manca, Bertok Sara, Battelino Tadej, Stirn Kranjc Branka, Trebušak Podkrajšek Katari |
| Abnormal foveal morphology in carriers of oculocutaneous albinism. The British journal of ophthalmology 2022 4 . Kuht Helen J, Thomas Mervyn G, McLean Rebecca J, Sheth Viral, Proudlock Frank A, Gottlob Ire |
| 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 |
| Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism. Alternative therapies in health and medicine 2023 7 . Bei Xu, Xiaofei Chen, Hongyi |
| 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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