191 related articles for article (PubMed ID: 25820994)
1. Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Skorczyk-Werner A; Pawłowski P; Michalczuk M; Warowicka A; Wawrocka A; Wicher K; Bakunowicz-Łazarczyk A; Krawczyński MR
J Appl Genet; 2015 Aug; 56(3):317-27. PubMed ID: 25820994
[TBL] [Abstract][Full Text] [Related]
2. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
Gonzalez-Fernandez F; Kurz D; Bao Y; Newman S; Conway BP; Young JE; Han DP; Khani SC
Mol Vis; 1999 Dec; 5():41. PubMed ID: 10617778
[TBL] [Abstract][Full Text] [Related]
3. Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
Hayashi T; Goto-Omoto S; Takeuchi T; Gekka T; Ueoka Y; Kitahara K
Acta Ophthalmol Scand; 2006 Apr; 84(2):254-8. PubMed ID: 16637847
[TBL] [Abstract][Full Text] [Related]
4. RDH5 retinopathy (fundus albipunctatus) with preserved rod function.
Liu X; Liu L; Li H; Xu F; Jiang R; Sui R
Retina; 2015 Mar; 35(3):582-9. PubMed ID: 25170858
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.
Hirose E; Inoue Y; Morimura H; Okamoto N; Fukuda M; Yamamoto S; Fujikado T; Tano Y
Invest Ophthalmol Vis Sci; 2000 Nov; 41(12):3933-5. PubMed ID: 11053296
[TBL] [Abstract][Full Text] [Related]
6. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
Nakamura M; Hotta Y; Tanikawa A; Terasaki H; Miyake Y
Invest Ophthalmol Vis Sci; 2000 Nov; 41(12):3925-32. PubMed ID: 11053295
[TBL] [Abstract][Full Text] [Related]
7. A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy.
Wada Y; Abe T; Sato H; Tamai M
Arch Ophthalmol; 2001 Jul; 119(7):1059-63. PubMed ID: 11448328
[TBL] [Abstract][Full Text] [Related]
8. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
Schatz P; Preising M; Lorenz B; Sander B; Larsen M; Rosenberg T
Ophthalmology; 2011 May; 118(5):888-94. PubMed ID: 21211845
[TBL] [Abstract][Full Text] [Related]
9. Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.
Wang NK; Chuang LH; Lai CC; Chou CL; Chu HY; Yeung L; Chen YP; Chen KJ; Wu WC; Chen TL; Chao AN; Hwang YS
Doc Ophthalmol; 2012 Aug; 125(1):51-62. PubMed ID: 22669287
[TBL] [Abstract][Full Text] [Related]
10. A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.
Yamamoto H; Yakushijin K; Kusuhara S; Escaño MF; Nagai A; Negi A
Am J Ophthalmol; 2003 Sep; 136(3):572-4. PubMed ID: 12967826
[TBL] [Abstract][Full Text] [Related]
11. A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa.
Sato M; Oshika T; Kaji Y; Nose H
Ophthalmic Res; 2004; 36(1):43-50. PubMed ID: 15007239
[TBL] [Abstract][Full Text] [Related]
12. A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.
Kuroiwa S; Kikuchi T; Yoshimura N
Am J Ophthalmol; 2000 Nov; 130(5):672-5. PubMed ID: 11078852
[TBL] [Abstract][Full Text] [Related]
13. Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
Wang C; Nakanishi N; Ohishi K; Hikoya A; Koide K; Sato M; Nakamura M; Hotta Y; Minoshima S
Ophthalmic Genet; 2008 Mar; 29(1):29-32. PubMed ID: 18363170
[TBL] [Abstract][Full Text] [Related]
14. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
Yamamoto H; Simon A; Eriksson U; Harris E; Berson EL; Dryja TP
Nat Genet; 1999 Jun; 22(2):188-91. PubMed ID: 10369264
[TBL] [Abstract][Full Text] [Related]
15. A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus.
Wada Y; Abe T; Fuse N; Tamai M
Invest Ophthalmol Vis Sci; 2000 Jun; 41(7):1894-7. PubMed ID: 10845614
[TBL] [Abstract][Full Text] [Related]
16. RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.
Nakamura M; Skalet J; Miyake Y
Doc Ophthalmol; 2003 Jul; 107(1):3-11. PubMed ID: 12906118
[TBL] [Abstract][Full Text] [Related]
17. Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.
Makiyama Y; Ooto S; Hangai M; Ogino K; Gotoh N; Oishi A; Yoshimura N
Am J Ophthalmol; 2014 Mar; 157(3):558-70.e1-4. PubMed ID: 24246574
[TBL] [Abstract][Full Text] [Related]
18. Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Qian T; Gong Q; Shen H; Li C; Wang G; Xu X; Schrauwen I; Wang W
BMC Ophthalmol; 2022 Feb; 22(1):69. PubMed ID: 35148716
[TBL] [Abstract][Full Text] [Related]
19. Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.
Nakamura M; Lin J; Miyake Y
Arch Ophthalmol; 2004 Aug; 122(8):1203-7. PubMed ID: 15302662
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
Sergouniotis PI; Sohn EH; Li Z; McBain VA; Wright GA; Moore AT; Robson AG; Holder GE; Webster AR
Ophthalmology; 2011 Aug; 118(8):1661-70. PubMed ID: 21529959
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]