231 related articles for article (PubMed ID: 14722913)
21. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
Preising MN; Forster H; Gonser M; Lorenz B
Mol Vis; 2011 Apr; 17():939-48. PubMed ID: 21541274
[TBL] [Abstract][Full Text] [Related]
22. Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.
Lin Y; Chen X; Yang Y; Che F; Zhang S; Yuan L; Wu Y
Mol Genet Genomic Med; 2019 Jul; 7(7):e00687. PubMed ID: 31199599
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
Grønskov K; Ek J; Sand A; Scheller R; Bygum A; Brixen K; Brondum-Nielsen K; Rosenberg T
Invest Ophthalmol Vis Sci; 2009 Mar; 50(3):1058-64. PubMed ID: 19060277
[TBL] [Abstract][Full Text] [Related]
25. Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4.
Kondo T; Namiki T; Coelho SG; Valencia JC; Hearing VJ
J Dermatol Sci; 2015 Jan; 77(1):21-7. PubMed ID: 25530116
[TBL] [Abstract][Full Text] [Related]
26. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
Passmore LA; Kaesmann-Kellner B; Weber BH
Hum Genet; 1999 Sep; 105(3):200-10. PubMed ID: 10987646
[TBL] [Abstract][Full Text] [Related]
27. Molecular and clinical characterization of albinism in a large cohort of Italian patients.
Gargiulo A; Testa F; Rossi S; Di Iorio V; Fecarotta S; de Berardinis T; Iovine A; Magli A; Signorini S; Fazzi E; Galantuomo MS; Fossarello M; Montefusco S; Ciccodicola A; Neri A; Macaluso C; Simonelli F; Surace EM
Invest Ophthalmol Vis Sci; 2011 Mar; 52(3):1281-9. PubMed ID: 20861488
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. [Genetics of oculocutaneous albinism].
Zühlke C; Stell A; Käsmann-Kellner B
Ophthalmologe; 2007 Aug; 104(8):674-80. PubMed ID: 17646993
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
Wei AH; Yang XM; Lian S; Li W
Chin Med J (Engl); 2013 Jan; 126(2):226-30. PubMed ID: 23324268
[TBL] [Abstract][Full Text] [Related]
32. NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
Xiao Y; Zhou C; Xie H; Huang S; Wang J; Liu S
BMC Genomics; 2022 Apr; 23(1):332. PubMed ID: 35488210
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Oculocutaneous albinism type 1A: a case report.
Karaman A
Dermatol Online J; 2008 Nov; 14(11):13. PubMed ID: 19094851
[TBL] [Abstract][Full Text] [Related]
35. Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?
Lezirovitz K; Nicastro FS; Pardono E; Abreu-Silva RS; Batissoco AC; Neustein I; Spinelli M; Mingroni-Netto RC
J Hum Genet; 2006; 51(8):716-720. PubMed ID: 16868655
[TBL] [Abstract][Full Text] [Related]
36. Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
Ko JM; Yang JA; Jeong SY; Kim HJ
Mol Med Rep; 2012 Apr; 5(4):943-8. PubMed ID: 22294196
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach.
Kamaraj B; Purohit R
J Cell Biochem; 2016 Nov; 117(11):2608-19. PubMed ID: 27019209
[TBL] [Abstract][Full Text] [Related]
39. Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.
Zhang KH; Li Z; Lei J; Pang T; Xu B; Jiang WY; Li HY
Cell Biochem Biophys; 2011 Dec; 61(3):523-9. PubMed ID: 21739261
[TBL] [Abstract][Full Text] [Related]
40. The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development.
Baxter LL; Pavan WJ
Mech Dev; 2002 Aug; 116(1-2):209-12. PubMed ID: 12128226
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
