274 related articles for article (PubMed ID: 33612058)
1. 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]
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.
Zhong J; You B; Xu K; Zhang X; Xie Y; Li Y
Ophthalmic Genet; 2021 Dec; 42(6):717-724. PubMed ID: 34346269
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Molecular and clinical characterization of albinism in a large cohort of Italian patients.
Gargiulo A; Testa F; Rossi S; Di Iorio V; Fecarotta S; de Berardinis T; Iovine A; Magli A; Signorini S; Fazzi E; Galantuomo MS; Fossarello M; Montefusco S; Ciccodicola A; Neri A; Macaluso C; Simonelli F; Surace EM
Invest Ophthalmol Vis Sci; 2011 Mar; 52(3):1281-9. PubMed ID: 20861488
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.
Arcot Sadagopan K; Teng CH; Hui G; Lin DL
Ophthalmic Genet; 2023 Feb; 44(1):54-69. PubMed ID: 36316991
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC; Gradstein L; Bergen AA; Florijn RJ; Arveiler B; Lasseaux E; Zanlonghi X; Bagdonaite-Bejarano L; Fulton AB; Yahalom C; Blumenfeld A; Perez Y; Birk OS; de Wit GC; Schalij-Delfos NE; van Genderen MM
Invest Ophthalmol Vis Sci; 2022 Jan; 63(1):19. PubMed ID: 35029636
[TBL] [Abstract][Full Text] [Related]
17. Albinism and the associated ocular defects.
Oetting WS; Summers CG; King RA
Metab Pediatr Syst Ophthalmol (1985); 1994; 17(1-4):5-9. PubMed ID: 8719278
[TBL] [Abstract][Full Text] [Related]
18. [Oculocutaneous and ocular albinism].
Kubasch AS; Meurer M
Hautarzt; 2017 Nov; 68(11):867-875. PubMed ID: 29018889
[TBL] [Abstract][Full Text] [Related]
19. GPR143 gene mutation analysis in pediatric patients with albinism.
Trebušak Podkrajšek K; Stirn Kranjc B; Hovnik T; Kovač J; Battelino T
Ophthalmic Genet; 2012 Sep; 33(3):167-70. PubMed ID: 22486324
[TBL] [Abstract][Full Text] [Related]
20. Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism.
Dumitrescu AV; Tran J; Pfeifer W; Bhattarai SV; Kemerley A; Dunn TV; Wang K; Scheetz TE; Drack A
Ophthalmic Genet; 2021 Oct; 42(5):539-552. PubMed ID: 34251969
[No Abstract] [Full Text] [Related]
[Next] [New Search]
