221 related articles for article (PubMed ID: 32969595)
1. Current landscape of Oculocutaneous Albinism in Japan.
Okamura K; Suzuki T
Pigment Cell Melanoma Res; 2021 Mar; 34(2):190-203. PubMed ID: 32969595
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Delineating the genetic heterogeneity of OCA in Hungarian patients.
Fábos B; Farkas K; Tóth L; Sulák A; Tripolszki K; Tihanyi M; Németh R; Vas K; Csoma Z; Kemény L; Széll M; Nagy N
Eur J Med Res; 2017 Jun; 22(1):20. PubMed ID: 28629449
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. [A new form of Oculocutaneous albinism, OCA4].
Li HY; Duan HL; Zheng H
Yi Chuan; 2006 Sep; 28(9):1149-52. PubMed ID: 16963427
[TBL] [Abstract][Full Text] [Related]
10. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
Hutton SM; Spritz RA
Invest Ophthalmol Vis Sci; 2008 Mar; 49(3):868-72. PubMed ID: 18326704
[TBL] [Abstract][Full Text] [Related]
11. Oculocutaneous albinism.
Grønskov K; Ek J; Brondum-Nielsen K
Orphanet J Rare Dis; 2007 Nov; 2():43. PubMed ID: 17980020
[TBL] [Abstract][Full Text] [Related]
12. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
Santiago Borrero PJ; Rodríguez-Pérez Y; Renta JY; Izquierdo NJ; Del Fierro L; Muñoz D; Molina NL; Ramírez S; Pagán-Mercado G; Ortíz I; Rivera-Caragol E; Spritz RA; Cadilla CL
J Invest Dermatol; 2006 Jan; 126(1):85-90. PubMed ID: 16417222
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power B; Ferreira CR; Chen D; Zein WM; O'Brien KJ; Introne WJ; Stephen J; Gahl WA; Huizing M; Malicdan MCV; Adams DR; Gochuico BR
Orphanet J Rare Dis; 2019 Feb; 14(1):52. PubMed ID: 30791930
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
Wei AH; Zang DJ; Zhang Z; Liu XZ; He X; Yang L; Wang Y; Zhou ZY; Zhang MR; Dai LL; Yang XM; Li W
J Invest Dermatol; 2013 Jul; 133(7):1834-40. PubMed ID: 23364476
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Delineating Novel and Known Pathogenic Variants in
Shakil M; Akbar A; Aisha NM; Hussain I; Ullah MI; Atif M; Kaul H; Amar A; Latif MZ; Qureshi MA; Mahmood S
Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328057
[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]