131 related articles for article (PubMed ID: 38928147)
21. A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.
Lin YY; Wei AH; Zhou ZY; Zhu W; He X; Lian S
Chin Med J (Engl); 2011 Oct; 124(20):3358-61. PubMed ID: 22088535
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.
Lu Q; Yuan L; Xu H; Huang X; Yang Z; Yi J; Ni B; Chen Y; Deng H
Mol Med Rep; 2017 Mar; 15(3):1426-1430. PubMed ID: 28112372
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Clinical and mutational characteristics of oculocutaneous albinism type 7.
Kruijt CC; de Wit GC; van Minderhout HM; Schalij-Delfos NE; van Genderen MM
Sci Rep; 2024 Mar; 14(1):7572. PubMed ID: 38555393
[TBL] [Abstract][Full Text] [Related]
28. Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Volk AE; Hedergott A; Preising M; Rading S; Fricke J; Herkenrath P; Nürnberg P; Altmüller J; von Ameln S; Lorenz B; Neugebauer A; Karsak M; Kubisch C
Hum Genet; 2021 Aug; 140(8):1157-1168. PubMed ID: 33959807
[TBL] [Abstract][Full Text] [Related]
29. Photoreceptor Cell-Derived CAPN5 Regulates Retinal Pigment Epithelium Cell Proliferation Through Direct Regulation of SLIT2 Cleavage.
Wang Y; Li H; Zang S; Li F; Chen Y; Zhang X; Song Z; Peng Q; Gu F
Invest Ophthalmol Vis Sci; 2018 Apr; 59(5):1810-1821. PubMed ID: 29610848
[TBL] [Abstract][Full Text] [Related]
30. Diagnosis of oculocutaneous albinism with molecular analysis.
Summers CG; Oetting WS; King RA
Am J Ophthalmol; 1996 Jun; 121(6):724-6. PubMed ID: 8644824
[TBL] [Abstract][Full Text] [Related]
31. A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.
Oki R; Yamada K; Nakano S; Kimoto K; Yamamoto K; Kondo H; Kubota T
Invest Ophthalmol Vis Sci; 2017 Feb; 58(2):1008-1016. PubMed ID: 28192564
[TBL] [Abstract][Full Text] [Related]
32. Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.
Shah SA; Din SU; Raheem N; Daud S; Mubeen J; Nadeem A; Tayyab M; Baloch DM; Babar ME; Ahmad J
Clin Exp Dermatol; 2014 Jul; 39(5):646-8. PubMed ID: 24934919
[TBL] [Abstract][Full Text] [Related]
33. Variable expression of vision in sibs with albinism.
Summers CG; Creel D; Townsend D; King RA
Am J Med Genet; 1991 Sep; 40(3):327-31. PubMed ID: 1951438
[TBL] [Abstract][Full Text] [Related]
34. Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
Mendez R; Iqbal S; Vishnopolska S; Martinez C; Dibner G; Aliano R; Zaiat J; Biagioli G; Fernandez C; Turjanski A; Campbell AJ; Mercado G; Marti MA
Ophthalmic Genet; 2021 Jun; 42(3):291-295. PubMed ID: 33599182
[No Abstract] [Full Text] [Related]
35. 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]
36. Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.
Kruijt CC; Schalij-Delfos NE; de Wit GC; Florijn RJ; van Genderen MM
Sci Rep; 2021 Jun; 11(1):11572. PubMed ID: 34078970
[TBL] [Abstract][Full Text] [Related]
37. Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a
O'Keefe G; Hanif AM; Mahajan VB; Jain N
Ocul Immunol Inflamm; 2019; 27(5):706-708. PubMed ID: 30986125
[TBL] [Abstract][Full Text] [Related]
38. The Phenotypic Spectrum of Albinism.
Kruijt CC; de Wit GC; Bergen AA; Florijn RJ; Schalij-Delfos NE; van Genderen MM
Ophthalmology; 2018 Dec; 125(12):1953-1960. PubMed ID: 30098354
[TBL] [Abstract][Full Text] [Related]
39. Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.
Shakil M; Harlalka GV; Ali S; Lin S; D'Atri I; Hussain S; Nasir A; Shahzad MA; Ullah MI; Self JE; Baple EL; Crosby AH; Mahmood S
Eye (Lond); 2019 Aug; 33(8):1339-1346. PubMed ID: 30996339
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
