These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
291 related articles for article (PubMed ID: 28112372)
1. Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. Lu Q; Yuan L; Xu H; Huang X; Yang Z; Yi J; Ni B; Chen Y; Deng H Mol Med Rep; 2017 Mar; 15(3):1426-1430. PubMed ID: 28112372 [TBL] [Abstract][Full Text] [Related]
2. Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1. Wang Y; Zhou YF; Shen N; Zhu YW; Tan K; Wang X Curr Med Sci; 2018 Oct; 38(5):932-936. PubMed ID: 30341532 [TBL] [Abstract][Full Text] [Related]
3. Mutation analysis of a Chinese family with oculocutaneous albinism. Wang X; Zhu Y; Shen N; Peng J; Wang C; Liu H; Lu Y Oncotarget; 2016 Dec; 7(51):84981-84988. PubMed ID: 27829221 [TBL] [Abstract][Full Text] [Related]
4. A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. Lin YY; Wei AH; He X; Zhou ZY; Lian S; Zhu W Eur J Dermatol; 2014; 24(2):168-73. PubMed ID: 24721949 [TBL] [Abstract][Full Text] [Related]
5. Identification of TYR mutations in patients with oculocutaneous albinism. Sun W; Shen Y; Shan S; Han L; Li Y; Zhou Z; Zhong Z; Chen J Mol Med Rep; 2018 Jun; 17(6):8409-8413. PubMed ID: 29658579 [TBL] [Abstract][Full Text] [Related]
6. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. Wang Y; Wang Z; Chen M; Fan N; Yang J; Liu L; Wang Y; Liu X PLoS One; 2015; 10(4):e0125651. PubMed ID: 25919014 [TBL] [Abstract][Full Text] [Related]
7. A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China. Lin YY; Wei AH; Zhou ZY; Zhu W; He X; Lian S Chin Med J (Engl); 2011 Oct; 124(20):3358-61. PubMed ID: 22088535 [TBL] [Abstract][Full Text] [Related]
8. Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations. Yang Q; Yi S; Li M; Xie B; Luo J; Wang J; Rong X; Zhang Q; Qin Z; Hang L; Feng S; Fan X BMC Med Genet; 2019 Jun; 20(1):106. PubMed ID: 31196117 [TBL] [Abstract][Full Text] [Related]
9. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. Shah SA; Raheem N; Daud S; Mubeen J; Shaikh AA; Baloch AH; Nadeem A; Tayyab M; Babar ME; Ahmad J Clin Exp Dermatol; 2015 Oct; 40(7):774-80. PubMed ID: 25703744 [TBL] [Abstract][Full Text] [Related]
10. Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism. Shah SA; Din SU; Raheem N; Daud S; Mubeen J; Nadeem A; Tayyab M; Baloch DM; Babar ME; Ahmad J Clin Exp Dermatol; 2014 Jul; 39(5):646-8. PubMed ID: 24934919 [TBL] [Abstract][Full Text] [Related]
11. Electron microscopic DOPA reaction test for oculocutaneous albinism. Takizawa Y; Kato S; Matsunaga J; Aozaki R; Tomita Y; Nishikawa T; Shimizu H Arch Dermatol Res; 2000 Jun; 292(6):301-5. PubMed ID: 10929771 [TBL] [Abstract][Full Text] [Related]
12. A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). Nakamura E; Miyamura Y; Matsunaga J; Kano Y; Dakeishi-Hara M; Tanita M; Kono M; Tomita Y J Dermatol Sci; 2002 Feb; 28(2):102-5. PubMed ID: 11858948 [TBL] [Abstract][Full Text] [Related]
13. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. Khordadpoor-Deilamani F; Akbari MT; Karimipoor M; Javadi G Mol Vis; 2015; 21():730-5. PubMed ID: 26167114 [TBL] [Abstract][Full Text] [Related]
14. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). Norman CS; O'Gorman L; Gibson J; Pengelly RJ; Baralle D; Ratnayaka JA; Griffiths H; Rose-Zerilli M; Ranger M; Bunyan D; Lee H; Page R; Newall T; Shawkat F; Mattocks C; Ward D; Ennis S; Self JE Sci Rep; 2017 Jun; 7(1):4415. PubMed ID: 28667292 [TBL] [Abstract][Full Text] [Related]
15. Tyrosinase gene mutations in the Chinese Han population with OCA1. Liu N; Kong XD; Shi HR; Wu QH; Jiang M Genet Res (Camb); 2014 Nov; 96():e14. PubMed ID: 25577957 [TBL] [Abstract][Full Text] [Related]
17. Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1. Si S; Jia X; Xu L; Qin Q; Wu J; Ji W; Dong K; Zhang X; Cao L; Wang H; Liu P; Wang R; Bai J; Fu S; Huang Y; Sun W Pigment Cell Melanoma Res; 2023 Nov; 36(6):472-480. PubMed ID: 37403904 [TBL] [Abstract][Full Text] [Related]
18. Mutation analysis of the tyrosinase gene in oculocutaneous albinism. Camand O; Marchant D; Boutboul S; Péquignot M; Odent S; Dollfus H; Sutherland J; Levin A; Menasche M; Marsac C; Dufier JL; Heon E; Abitbol M Hum Mutat; 2001 Apr; 17(4):352. PubMed ID: 11295837 [TBL] [Abstract][Full Text] [Related]
19. TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations. Chen C; Li J; Wang B; Wang Y; Yu X Exp Eye Res; 2024 Feb; 239():109761. PubMed ID: 38145795 [TBL] [Abstract][Full Text] [Related]
20. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. King RA; Pietsch J; Fryer JP; Savage S; Brott MJ; Russell-Eggitt I; Summers CG; Oetting WS Hum Genet; 2003 Nov; 113(6):502-13. PubMed ID: 13680365 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]