131 related articles for article (PubMed ID: 38928147)
1. Genetic Linkage between
Bjeloš M; Ćurić A; Bušić M; Rak B; Kuzmanović Elabjer B
Int J Mol Sci; 2024 Jun; 25(12):. PubMed ID: 38928147
[TBL] [Abstract][Full Text] [Related]
2. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the
Monfermé S; Lasseaux E; Duncombe-Poulet C; Hamel C; Defoort-Dhellemmes S; Drumare I; Zanlonghi X; Dollfus H; Perdomo Y; Bonneau D; Korobelnik JF; Plaisant C; Michaud V; Pennamen P; Rooryck-Thambo C; Morice-Picard F; Paya C; Arveiler B
Br J Ophthalmol; 2019 Sep; 103(9):1239-1247. PubMed ID: 30472657
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V; Lasseaux E; Green DJ; Gerrard DT; Plaisant C; ; Fitzgerald T; Birney E; Arveiler B; Black GC; Sergouniotis PI
Nat Commun; 2022 Jul; 13(1):3939. PubMed ID: 35803923
[TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L; Kjer B; Lei U; Duno M; Grønskov K
Ophthalmic Genet; 2021 Jun; 42(3):230-238. PubMed ID: 33612058
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?
Rocca C; Tiberi L; Bargiacchi S; Palazzo V; Landini S; Marziali E; Caputo R; Tinelli F; Marchi V; Benedetto A; Pagliazzi A; Bacci GM
Int J Mol Sci; 2022 Jul; 23(14):. PubMed ID: 35887175
[TBL] [Abstract][Full Text] [Related]
9. Oculocutaneous albinism type 1A: a case report.
Karaman A
Dermatol Online J; 2008 Nov; 14(11):13. PubMed ID: 19094851
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
Sanabria D; Groot H; Guzmán J; Lattig MC
Biomedica; 2012 Jun; 32(2):269-76. PubMed ID: 23242301
[TBL] [Abstract][Full Text] [Related]
13. Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes.
Randazzo NM; Shanks ME; Clouston P; MacLaren RE
Ocul Immunol Inflamm; 2019; 27(5):693-698. PubMed ID: 29040051
[No Abstract] [Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Bassuk AG; Yeh S; Wu S; Martin DF; Tsang SH; Gakhar L; Mahajan VB
PLoS One; 2015; 10(4):e0122352. PubMed ID: 25856303
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]