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.
42. Zhong J; You B; Xu K; Zhang X; Xie Y; Li Y Ophthalmic Genet; 2021 Dec; 42(6):717-724. PubMed ID: 34346269 [TBL] [Abstract][Full Text] [Related]
43. [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. Sanabria D; Groot H; Guzmán J; Lattig MC Biomedica; 2012 Jun; 32(2):269-76. PubMed ID: 23242301 [TBL] [Abstract][Full Text] [Related]
44. Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. Wei AH; Zang DJ; Zhang Z; Yang XM; Li W J Genet Genomics; 2015 Jun; 42(6):279-86. PubMed ID: 26165494 [TBL] [Abstract][Full Text] [Related]
45. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the Monfermé S; Lasseaux E; Duncombe-Poulet C; Hamel C; Defoort-Dhellemmes S; Drumare I; Zanlonghi X; Dollfus H; Perdomo Y; Bonneau D; Korobelnik JF; Plaisant C; Michaud V; Pennamen P; Rooryck-Thambo C; Morice-Picard F; Paya C; Arveiler B Br J Ophthalmol; 2019 Sep; 103(9):1239-1247. PubMed ID: 30472657 [TBL] [Abstract][Full Text] [Related]
46. 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]
47. Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism. Kausar T; Jaworek TJ; Tariq N; Sadia S; Ali M; Shaikh RS; Ahmed ZM J Invest Dermatol; 2013 Apr; 133(4):1099-102. PubMed ID: 23190901 [No Abstract] [Full Text] [Related]
48. Microarray analysis of iris gene expression in mice with mutations influencing pigmentation. Trantow CM; Cuffy TL; Fingert JH; Kuehn MH; Anderson MG Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):237-48. PubMed ID: 20739468 [TBL] [Abstract][Full Text] [Related]
49. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Rooryck C; Roudaut C; Robine E; Müsebeck J; Arveiler B Pigment Cell Res; 2006 Jun; 19(3):239-42. PubMed ID: 16704458 [TBL] [Abstract][Full Text] [Related]
50. Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. Jaworek TJ; Kausar T; Bell SM; Tariq N; Maqsood MI; Sohail A; Ali M; Iqbal F; Rasool S; Riazuddin S; Shaikh RS; Ahmed ZM Orphanet J Rare Dis; 2012 Jun; 7():44. PubMed ID: 22734612 [TBL] [Abstract][Full Text] [Related]
51. Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family. Yahalom C; Sharon D; Dalia E; Simhon SB; Shemesh E; Blumenfeld A Ophthalmic Genet; 2015 Jun; 36(2):175-9. PubMed ID: 25687215 [TBL] [Abstract][Full Text] [Related]
52. 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]
54. Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America. Urtatiz O; Sanabria D; Lattig MC J Dermatol Sci; 2014 Dec; 76(3):260-2. PubMed ID: 25455140 [No Abstract] [Full Text] [Related]
55. [Oculocutaneous and ocular albinism]. Kubasch AS; Meurer M Hautarzt; 2017 Nov; 68(11):867-875. PubMed ID: 29018889 [TBL] [Abstract][Full Text] [Related]
57. Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1. Liu J; Choy KW; Chan LW; Leung TY; Tam PO; Chiang SW; Lam DS; Pang CP; Lai TY Clin Exp Ophthalmol; 2010 Jan; 38(1):37-42. PubMed ID: 20447099 [TBL] [Abstract][Full Text] [Related]
58. The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Toyofuku K; Valencia JC; Kushimoto T; Costin GE; Virador VM; Vieira WD; Ferrans VJ; Hearing VJ Pigment Cell Res; 2002 Jun; 15(3):217-24. PubMed ID: 12028586 [TBL] [Abstract][Full Text] [Related]
59. Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. Park SK; Lee KH; Park KC; Lee JS; Spritz RA; Lee ST Mol Cells; 1997 Apr; 7(2):187-91. PubMed ID: 9163730 [TBL] [Abstract][Full Text] [Related]
60. 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] [Previous] [Next] [New Search]