364 related articles for article (PubMed ID: 20019752)
1. Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.
Johanson HC; Chen W; Wicking C; Sturm RA
J Hum Genet; 2010 Feb; 55(2):103-11. PubMed ID: 20019752
[TBL] [Abstract][Full Text] [Related]
2. SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
Mauri L; Barone L; Al Oum M; Del Longo A; Piozzi E; Manfredini E; Stanzial F; Benedicenti F; Penco S; Patrosso MC
Gene; 2014 Jan; 533(1):398-402. PubMed ID: 24096233
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.
Duffy DL; Box NF; Chen W; Palmer JS; Montgomery GW; James MR; Hayward NK; Martin NG; Sturm RA
Hum Mol Genet; 2004 Feb; 13(4):447-61. PubMed ID: 14709592
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
Kerr R; Stevens G; Manga P; Salm S; John P; Haw T; Ramsay M
Hum Mutat; 2000; 15(2):166-72. PubMed ID: 10649493
[TBL] [Abstract][Full Text] [Related]
8. Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.
Preising MN; Forster H; Tan H; Lorenz B; de Jong PT; Plomp AS
Mol Vis; 2007 Oct; 13():1851-5. PubMed ID: 17960121
[TBL] [Abstract][Full Text] [Related]
9. [Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].
Li HY; Wei HY; Zheng H; Meng S; Jiang WY; Chen LM; Duan HL
Zhonghua Yi Xue Za Zhi; 2007 Apr; 87(16):1123-5. PubMed ID: 17672996
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.
Renugadevi K; Sil AK; Perumalsamy V; Sundaresan P
Hum Genet; 2009 Apr; 125(3):340. PubMed ID: 19309806
[No Abstract] [Full Text] [Related]
12. Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online.
Oetting WS; Gardner JM; Fryer JP; Ching A; Durham-Pierre D; King RA; Brilliant MH
Hum Mutat; 1998; 12(6):434. PubMed ID: 10671067
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.
Kawai M; Suzuki T; Ito S; Inagaki K; Suzuki N; Tomita Y
Dermatology; 2005; 210(4):322-3. PubMed ID: 15942220
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
Tripathi RK; Strunk KM; Giebel LB; Weleber RG; Spritz RA
Am J Med Genet; 1992 Jul; 43(5):865-71. PubMed ID: 1642278
[TBL] [Abstract][Full Text] [Related]
18. High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Morice-Picard F; Lasseaux E; Cailley D; Gros A; Toutain J; Plaisant C; Simon D; François S; Gilbert-Dussardier B; Kaplan J; Rooryck C; Lacombe D; Arveiler B
Pigment Cell Melanoma Res; 2014 Jan; 27(1):59-71. PubMed ID: 24118800
[TBL] [Abstract][Full Text] [Related]
19. Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4.
Costin GE; Valencia JC; Vieira WD; Lamoreux ML; Hearing VJ
J Cell Sci; 2003 Aug; 116(Pt 15):3203-12. PubMed ID: 12829739
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
