292 related articles for article (PubMed ID: 23324268)
1. 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]
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. 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]
4. 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]
5. 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]
6. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
Wei A; Wang Y; Long Y; Wang Y; Guo X; Zhou Z; Zhu W; Liu J; Bian X; Lian S; Li W
J Invest Dermatol; 2010 Mar; 130(3):716-24. PubMed ID: 19865097
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. SLC45A2 variations in Indian oculocutaneous albinism patients.
Sengupta M; Chaki M; Arti N; Ray K
Mol Vis; 2007 Aug; 13():1406-11. PubMed ID: 17768386
[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. 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]
12. Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.
Xu B; Chen X; Li H
Altern Ther Health Med; 2023 Oct; 29(7):278-283. PubMed ID: 37471664
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.
Sengupta M; Mondal M; Jaiswal P; Sinha S; Chaki M; Samanta S; Ray K
Br J Dermatol; 2010 Sep; 163(3):487-94. PubMed ID: 20426782
[TBL] [Abstract][Full Text] [Related]
19. Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.
Qiu B; Ma T; Peng C; Zheng X; Yang J
Genet Test Mol Biomarkers; 2018 Apr; 22(4):252-258. PubMed ID: 29437493
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]