328 related articles for article (PubMed ID: 20806075)
1. Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.
Renugadevi K; Sil AK; Perumalsamy V; Sundaresan P
Mol Vis; 2010 Aug; 16():1514-24. PubMed ID: 20806075
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
Khordadpoor-Deilamani F; Akbari MT; Karimipoor M; Javadi G
Mol Vis; 2015; 21():730-5. PubMed ID: 26167114
[TBL] [Abstract][Full Text] [Related]
9. Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.
Jaworek TJ; Kausar T; Bell SM; Tariq N; Maqsood MI; Sohail A; Ali M; Iqbal F; Rasool S; Riazuddin S; Shaikh RS; Ahmed ZM
Orphanet J Rare Dis; 2012 Jun; 7():44. PubMed ID: 22734612
[TBL] [Abstract][Full Text] [Related]
10. Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
Gul H; Shah AH; Harripaul R; Mikhailov A; Prajapati K; Khan E; Ullah F; Zubair M; Ali MZ; Shah AH; Salman S; Khan S; Vincent JB; Khan MA
Ann Hum Genet; 2019 Jul; 83(4):278-284. PubMed ID: 30868578
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Chan HW; Schiff ER; Tailor VK; Malka S; Neveu MM; Theodorou M; Moosajee M
Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33808351
[TBL] [Abstract][Full Text] [Related]
13. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
Shah SA; Raheem N; Daud S; Mubeen J; Shaikh AA; Baloch AH; Nadeem A; Tayyab M; Babar ME; Ahmad J
Clin Exp Dermatol; 2015 Oct; 40(7):774-80. PubMed ID: 25703744
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.
Chuan Z; Yan Y; Hao S; Zhang Q; Zhou B; Feng X; Wang X; Liu F; Zheng L; Cao Z; Ma X
Curr Eye Res; 2021 Jan; 46(1):140-143. PubMed ID: 32552135
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
