Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 43 Records) |
Query Trace: Albinism and TYR[original query] |
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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 |
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. European journal of dermatology : EJD 0 24 (2): 168-73. Lin Yu-Ying, Wei Ai-Hua, He Xin, Zhou Zhi-Yong, Lian Shi, Zhu W |
Tyrosinase gene mutations in the Chinese Han population with OCA1. Genetics research 2014 96 e14. Liu Ning, Kong Xiang Dong, Shi Hui Rong, Wu Qing Hua, Jiang Mi |
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. Neurobiology of aging 2016 Jul . Lubbe S J, Escott-Price V, Brice A, Gasser T, Pittman A M, Bras J, Hardy J, Heutink P, Wood N M, Singleton A B, Grosset D G, Carroll C B, Law M H, Demenais F, Iles M M, , Bishop D T, Newton-Bishop J, Williams N M, Morris H R, |
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 |
Identification of TYR mutations in patients with oculocutaneous albinism. Molecular medicine reports 2018 4 17 (6): 8409-8413. Sun Wan, Shen Yanjie, Shan Shan, Han Liyun, Li Yang, Zhou Zheng, Zhong Zilin, Chen Jianj |
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 |
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations. BMC medical genetics 2019 Jun 20 (1): 106. Yang Qi, Yi Sheng, Li Mengting, Xie Bobo, Luo Jinsi, Wang Jin, Rong Xiuliang, Zhang Qinle, Qin Zailong, Hang Limei, Feng Shihan, Fan X |
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families. Eye (London, England) 2019 4 33 (8): 1339-1346. Shakil Muhammad, Harlalka Gaurav V, Ali Shamshad, Lin Siying, D'Atri Ilaria, Hussain Shabbir, Nasir Abdul, Shahzad Muhammad Aiman, Ullah Muhammad Ikram, Self Jay E, Baple Emma L, Crosby Andrew H, Mahmood Saq |
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. Orphanet journal of rare diseases 2019 2 14 (1): 52. Power Bradley, Ferreira Carlos R, Chen Dong, Zein Wadih M, O'Brien Kevin J, Introne Wendy J, Stephen Joshi, Gahl William A, Huizing Marjan, Malicdan May Christine V, Adams David R, Gochuico Bernadette |
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 |
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 |
Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities. Annals of human genetics 2020 3 84 (3): 303-312. Ganguly Kausik, Dutta Tithi, Saha Arpan, Sarkar Devroop, Sil Asim, Ray Kunal, Sengupta Main |
Discordant phenotypes in twins with infantile nystagmus. Scientific reports 2021 2 11 (1): 2826. Aamir Abdullah, Kuht Helen J, McLean Rebecca J, Maconachie Gail D E, Sheth Viral, Dawar Basu, Purohit Ravi, Sylvius Nicolas, Hisaund Michael, Zubcov-Iwantscheff Alina, Proudlock Frank A, Gottlob Irene, Thomas Mervyn |
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 |
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. Nature communications 2022 7 13 (1): 3939. Michaud Vincent, Lasseaux Eulalie, Green David J, Gerrard Dave T, Plaisant Claudio, , Fitzgerald Tomas, Birney Ewan, Arveiler Benoît, Black Graeme C, Sergouniotis Panagiotis |
Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism. The Journal of dermatology 2022 7 49 (11): 1183-1187. Maas Ellie J, Wallingford Courtney K, McGuire Jessica J, Rutjes Chantal, Smit Darren J, Betz-Stablein Brigid, Sturm Richard A, Soyer H Peter, McInerney-Leo Aideen |
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 |
[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 1 39 (2): 143-147. Yang Yujiao, Mao Bin, Wang Qiong, Lie Shubing, Zhang Ruixuan, Zhao Xiu |
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 |
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B. American journal of human genetics 2023 6 . Stacie K Loftus, Meredith F Gillis, Linnea Lundh, Laura L Baxter, Julia C Wedel, Dawn E Watkins-Chow, Frank X Donovan, , Yuri V Sergeev, William S Oetting, William J Pavan, David R Ada |
TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations. Experimental eye research 2023 12 239 109761. Chonglin Chen, Jun Li, Bingqi Wang, Yinghuan Wang, Xinping |
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 |
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- Page last updated:Mar 25, 2024
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