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.
173 related articles for article (PubMed ID: 34251969)
41. Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center. Seguy PH; Korobelnik JF; Delyfer MN; Michaud V; Arveiler B; Lasseaux E; Gattoussi S; Rougier MB; Trin K; Morice-Picard F; Ghomashchi N; Coste V Invest Ophthalmol Vis Sci; 2023 Sep; 64(12):26. PubMed ID: 37707835 [TBL] [Abstract][Full Text] [Related]
42. Stereopsis in patients with albinism: clinical correlates. Lee KA; King RA; Summers CG J AAPOS; 2001 Apr; 5(2):98-104. PubMed ID: 11304818 [TBL] [Abstract][Full Text] [Related]
43. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Simeonov DR; Wang X; Wang C; Sergeev Y; Dolinska M; Bower M; Fischer R; Winer D; Dubrovsky G; Balog JZ; Huizing M; Hart R; Zein WM; Gahl WA; Brooks BP; Adams DR Hum Mutat; 2013 Jun; 34(6):827-35. PubMed ID: 23504663 [TBL] [Abstract][Full Text] [Related]
44. Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. Suzuki T; Tomita Y J Dermatol Sci; 2008 Jul; 51(1):1-9. PubMed ID: 18407468 [TBL] [Abstract][Full Text] [Related]
45. [Optical coherence tomography in patients with foveal hypoplasia and high visual acuity]. Shpak AA; Aznaurian IÉ; Balasanian VO; Tavtilova DA Vestn Oftalmol; 2012; 128(4):66-9. PubMed ID: 22994112 [TBL] [Abstract][Full Text] [Related]
47. Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family. Wang Y; Chang Y; Gao M; Zang W; Liu X Hereditas; 2024 Feb; 161(1):8. PubMed ID: 38317267 [TBL] [Abstract][Full Text] [Related]
48. 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]
49. Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case. He D; Liu X; Yao T; Hu J; Zheng X; Tang L; Fan X Mol Genet Genomic Med; 2024 Feb; 12(2):e2385. PubMed ID: 38337174 [TBL] [Abstract][Full Text] [Related]
50. Can Structural Grading of Foveal Hypoplasia Predict Future Vision in Infantile Nystagmus?: A Longitudinal Study. Rufai SR; Thomas MG; Purohit R; Bunce C; Lee H; Proudlock FA; Gottlob I Ophthalmology; 2020 Apr; 127(4):492-500. PubMed ID: 31937464 [TBL] [Abstract][Full Text] [Related]
52. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Inagaki K; Suzuki T; Shimizu H; Ishii N; Umezawa Y; Tada J; Kikuchi N; Takata M; Takamori K; Kishibe M; Tanaka M; Miyamura Y; Ito S; Tomita Y Am J Hum Genet; 2004 Mar; 74(3):466-71. PubMed ID: 14961451 [TBL] [Abstract][Full Text] [Related]
53. Clinical and mutational characteristics of oculocutaneous albinism type 7. Kruijt CC; de Wit GC; van Minderhout HM; Schalij-Delfos NE; van Genderen MM Sci Rep; 2024 Mar; 14(1):7572. PubMed ID: 38555393 [TBL] [Abstract][Full Text] [Related]
54. Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. Iwata F; Reed GF; Caruso RC; Kuehl EM; Gahl WA; Kaiser-Kupfer MI Ophthalmology; 2000 Apr; 107(4):783-9. PubMed ID: 10768343 [TBL] [Abstract][Full Text] [Related]
55. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. Hutton SM; Spritz RA J Invest Dermatol; 2008 Oct; 128(10):2442-50. PubMed ID: 18463683 [TBL] [Abstract][Full Text] [Related]
56. [Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation]. Pang T; Lei J; Zheng H; Xu B; Jiang WY; Li HY Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Feb; 28(1):1-5. PubMed ID: 21287499 [TBL] [Abstract][Full Text] [Related]
57. Visual deficits in Nepalese patients with oculocutaneous albinism. Khanal S; Pokharel A; Kandel H J Optom; 2016; 9(2):102-9. PubMed ID: 25823539 [TBL] [Abstract][Full Text] [Related]
58. Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review. Ullah MI Genes (Basel); 2022 Jun; 13(6):. PubMed ID: 35741834 [TBL] [Abstract][Full Text] [Related]
59. [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]
60. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. Rimoldi V; Straniero L; Asselta R; Mauri L; Manfredini E; Penco S; Gesu GP; Del Longo A; Piozzi E; Soldà G; Primignani P Gene; 2014 Mar; 537(1):79-84. PubMed ID: 24361966 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]