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HuGE Literature Finder

Records 1-16

Query Trace: Hypopigmentation and TYR[orginal query]

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 Similar articles in PubMed
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 Similar articles in PubMed
miR-196a-2 rs11614913 polymorphism is associated with vitiligo by affecting heterodimeric molecular complexes of Tyr and Tyrp1. Archives of dermatological research 2015 Oct 307 (8): 683-92. Cui T-T, Yi X-L, Zhang W-G, Wei C, Zhou F-B, Jian Z, Wang G, Gao T-W, Li C-Y, Li Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nature genetics 2012 Jun 44 (6): 676-80. Jin Ying, Birlea Stanca A, Fain Pamela R, Ferrara Tracey M, Ben Songtao, Riccardi Sheri L, Cole Joanne B, Gowan Katherine, Holland Paulene J, Bennett Dorothy C, Luiten Rosalie M, Wolkerstorfer Albert, van der Veen J P Wietze, Hartmann Anke, Eichner Saskia, Schuler Gerold, van Geel Nanja, Lambert Jo, Kemp E Helen, Gawkrodger David J, Weetman Anthony P, Taïeb Alain, Jouary Thomas, Ezzedine Khaled, Wallace Margaret R, McCormack Wayne T, Picardo Mauro, Leone Giovanni, Overbeck Andreas, Silverberg Nanette B, Spritz Richard Similar articles in PubMed
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 Similar articles in PubMed
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. Molecular vision 2011 17 . Preising MN, Forster H, Gonser M, Lorenz B Similar articles in PubMed
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. The New England journal of medicine 2010 May 362 (18): 1686-97. Jin Ying, Birlea Stanca A, Fain Pamela R, Gowan Katherine, Riccardi Sheri L, Holland Paulene J, Mailloux Christina M, Sufit Alexandra J D, Hutton Saunie M, Amadi-Myers Anita, Bennett Dorothy C, Wallace Margaret R, McCormack Wayne T, Kemp E Helen, Gawkrodger David J, Weetman Anthony P, Picardo Mauro, Leone Giovanni, Taïeb Alain, Jouary Thomas, Ezzedine Khaled, van Geel Nanny, Lambert Jo, Overbeck Andreas, Spritz Richard Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. The Journal of investigative dermatology 2006 Jan 126 (1): 85-90. Santiago Borrero Pedro J, Rodríguez-Pérez Yolanda, Renta Jessicca Y, Izquierdo Natalio J, Del Fierro Laura, Muñoz Daniel, Molina Norma López, Ramírez Sonia, Pagán-Mercado Glorivee, Ortíz Idith, Rivera-Caragol Enid, Spritz Richard A, Cadilla Carmen Similar articles in PubMed
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 Similar articles in PubMed

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