Human Genome Epidemiology Literature Finder
Records 1 - 20 (of 20 Records) |
Query Trace: Albinism and TYRP1[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 |
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 |
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Investigative ophthalmology & visual science 2009 Mar 50 (3): 1058-64. Grønskov Karen, Ek Jakob, Sand Annie, Scheller Rudolf, Bygum Anette, Brixen Kim, Brondum-Nielsen Karen, Rosenberg Thom |
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 |
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 |
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 |
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 |
[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 |
Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs. Genes 2021 8 12 (7): . Laukner Anna, Truchet Laura, Manukjan Georgi, Schulze Harald, Langbein-Detsch Ines, Mueller Elisabeth, Leeb Tosso, Kehl Alexand |
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 |
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants. Frontiers in genetics 2022 8 13 926511. Zhong Zilin, Zhou Zheng, Chen Jianjun, Zhang J |
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 |
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- Page last updated:Apr 22, 2024
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