242 related articles for article (PubMed ID: 34980106)
1. Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.
Dhangar S; Panchal P; Ghatanatti J; Suralkar J; Shah A; Vundinti BR
BMC Med Genomics; 2022 Jan; 15(1):2. PubMed ID: 34980106
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1.
Wang Y; Zhou YF; Shen N; Zhu YW; Tan K; Wang X
Curr Med Sci; 2018 Oct; 38(5):932-936. PubMed ID: 30341532
[TBL] [Abstract][Full Text] [Related]
4. TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.
Chen C; Li J; Wang B; Wang Y; Yu X
Exp Eye Res; 2024 Feb; 239():109761. PubMed ID: 38145795
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Identification of TYR mutations in patients with oculocutaneous albinism.
Sun W; Shen Y; Shan S; Han L; Li Y; Zhou Z; Zhong Z; Chen J
Mol Med Rep; 2018 Jun; 17(6):8409-8413. PubMed ID: 29658579
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
Sajid Z; Yousaf S; Waryah YM; Mughal TA; Kausar T; Shahzad M; Rao AR; Abbasi AA; Shaikh RS; Waryah AM; Riazuddin S; Ahmed ZM
Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33800529
[TBL] [Abstract][Full Text] [Related]
10. Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.
Si S; Jia X; Xu L; Qin Q; Wu J; Ji W; Dong K; Zhang X; Cao L; Wang H; Liu P; Wang R; Bai J; Fu S; Huang Y; Sun W
Pigment Cell Melanoma Res; 2023 Nov; 36(6):472-480. PubMed ID: 37403904
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.
Schnur RE; Sellinger BT; Holmes SA; Wick PA; Tatsumura YO; Spritz RA
J Invest Dermatol; 1996 May; 106(5):1137-40. PubMed ID: 8618053
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.
Wang H; Wan Y; Yang Y; Li H; Mao L; Gao S; Xu J; Wang J
BMC Med Genet; 2019 Jul; 20(1):130. PubMed ID: 31345173
[TBL] [Abstract][Full Text] [Related]
16. Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.
Gul H; Ali MZ; Khan E; Zubair M; Badar M; Khan S; Shah AH; Khan MA
J Pak Med Assoc; 2017 May; 67(5):790-792. PubMed ID: 28507374
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B; Zhang H; Kan Y; Gao X; Du Z; Liu Q
Mol Genet Genomic Med; 2024 Jan; 12(1):e2297. PubMed ID: 37882226
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
