Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 16 (of 16 Records) |
| Query Trace: Oculocutaneous Albinism Type 3[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 |
| Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. Molecular vision 2005 1 10 1005-10. Sundaresan Periasamy, Sil Asim Kumar, Philp Alisdair R, Randolph Mary A, Natchiar Govindappa, Namperumalsamy Perumalsa |
| 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 |
| Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes. Biochemical genetics 2007 Aug 45 (7-8): 535-42. Yuasa I, Umetsu K, Harihara S, Kido A, Miyoshi A, Saitou N, Dashnyam B, Jin F, Lucotte G, Chattopadhyay P K, Henke L, Henke |
| OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations. Journal of human genetics 2007 52 (8): 690-3. Yuasa Isao, Umetsu Kazuo, Harihara Shinji, Miyoshi Aya, Saitou Naruya, Park Kyung Sook, Dashnyam Bumbein, Jin Feng, Lucotte Gérard, Chattopadhyay Prasanta K, Henke Lotte, Henke Jürg |
| Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation. Human mutation 2007 Jul 28 (7): 710-7. Graf Justin, Voisey Joanne, Hughes Ian, van Daal Ange |
| Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2. The Journal of investigative dermatology 2008 Dec 128 (12): 2807-14. Shekar Sri N, Duffy David L, Frudakis Tony, Sturm Richard A, Zhao Zhen Z, Montgomery Grant W, Martin Nicholas |
| 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 |
| Distribution of OCA2*481Thr and OCA2*615Arg, associated with hypopigmentation, in several additional populations. Legal medicine (Tokyo, Japan) 2011 Jul 13 (4): 215-7. Yuasa Isao, Harihara Shinji, Jin Feng, Nishimukai Hiroaki, Fujihara Junko, Fukumori Yasuo, Takeshita Haruo, Umetsu Kazuo, Saitou Naru |
| A global view of the OCA2-HERC2 region and pigmentation. Human genetics 2012 May 131 (5): 683-96. Donnelly Michael P, Paschou Peristera, Grigorenko Elena, Gurwitz David, Barta Csaba, Lu Ru-Band, Zhukova Olga V, Kim Jong-Jin, Siniscalco Marcello, New Maria, Li Hui, Kajuna Sylvester L B, Manolopoulos Vangelis G, Speed William C, Pakstis Andrew J, Kidd Judith R, Kidd Kenneth |
| 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 |
| 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 |
| Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene. The Journal of dermatology 2019 Sep . Zhang Yunlan, Zhang Yingzi, Liu Teng, Bai Dayong, Yang Xiumin, Li Wei, Wei Aih |
| 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 |
| [Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 4 38 (4): 317-320. Wang Conghui, Chen Chen, Wang Xiaofeng, Zhao Xuechao, Zhao Ganye, Liu Li'na, Kong Xiangdo |
| 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 |
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