94 related articles for article (PubMed ID: 22487821)
1. [Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness].
Wang FY; Wang YL; Yang Y; Li CM; Zhang T; Chang MX; Zhu YL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Apr; 29(2):145-8. PubMed ID: 22487821
[TBL] [Abstract][Full Text] [Related]
2. [A recurrent rhodopsin gene missense mutation in a Chinese family with autosomal dominant retinitis pigmentosa].
Wang S; Zhang R; Shi Z; Ren L; Ren J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):192-4. PubMed ID: 15793783
[TBL] [Abstract][Full Text] [Related]
3. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
Neidhardt J; Barthelmes D; Farahmand F; Fleischhauer JC; Berger W
Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1630-5. PubMed ID: 16565402
[TBL] [Abstract][Full Text] [Related]
4. Mutations in NYX of individuals with high myopia, but without night blindness.
Zhang Q; Xiao X; Li S; Jia X; Yang Z; Huang S; Caruso RC; Guan T; Sergeev Y; Guo X; Hejtmancik JF
Mol Vis; 2007 Mar; 13():330-6. PubMed ID: 17392683
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.
al-Jandal N; Farrar GJ; Kiang AS; Humphries MM; Bannon N; Findlay JB; Humphries P; Kenna PF
Hum Mutat; 1999; 13(1):75-81. PubMed ID: 9888392
[TBL] [Abstract][Full Text] [Related]
6. A dominant form of congenital stationary night blindness (adCSNB) in a large Chinese family.
Liu X; Zhuang S; Hu S; Zhang F; Lin B; Li X; Xu D; Chen SH
Ann Hum Genet; 2005 May; 69(Pt 3):315-21. PubMed ID: 15845035
[TBL] [Abstract][Full Text] [Related]
7. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
Gal A; Orth U; Baehr W; Schwinger E; Rosenberg T
Nat Genet; 1994 May; 7(1):64-8. PubMed ID: 8075643
[TBL] [Abstract][Full Text] [Related]
8. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
Naeem MA; Gottsch AD; Ullah I; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
Mol Vis; 2015; 21():1261-71. PubMed ID: 26628857
[TBL] [Abstract][Full Text] [Related]
9. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
Nakamura M; Ito S; Terasaki H; Miyake Y
Invest Ophthalmol Vis Sci; 2001 Jun; 42(7):1610-6. PubMed ID: 11381068
[TBL] [Abstract][Full Text] [Related]
10. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
Szabo V; Kreienkamp HJ; Rosenberg T; Gal A
Hum Mutat; 2007 Jul; 28(7):741-2. PubMed ID: 17584859
[TBL] [Abstract][Full Text] [Related]
11. Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.
Sippel KC; DeStefano JD; Berson EL; Dryja TP
Invest Ophthalmol Vis Sci; 1998 Mar; 39(3):665-70. PubMed ID: 9501883
[TBL] [Abstract][Full Text] [Related]
12. [Exclusion of the association of five known mutations with congenital stationary nyctalopia in a large Chinese family].
Zhuang SL; Zou JW; Peng CL; Liu XL; Chen SH; Huang FL; Hu SN; Yu QS
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2005 May; 34(3):255-9. PubMed ID: 15940795
[TBL] [Abstract][Full Text] [Related]
13. [Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa].
Teng Y; Tian H; Wang H; Hu X; Chen Y; Yang Z; Wang W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr; 20(2):164-6. PubMed ID: 12673590
[TBL] [Abstract][Full Text] [Related]
14. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.
Hayashi T; Gekka T; Takeuchi T; Goto-Omoto S; Kitahara K
Ophthalmology; 2007 Jan; 114(1):134-41. PubMed ID: 17070587
[TBL] [Abstract][Full Text] [Related]
15. GNAT1 associated with autosomal recessive congenital stationary night blindness.
Naeem MA; Chavali VR; Ali S; Iqbal M; Riazuddin S; Khan SN; Husnain T; Sieving PA; Ayyagari R; Riazuddin S; Hejtmancik JF; Riazuddin SA
Invest Ophthalmol Vis Sci; 2012 Mar; 53(3):1353-61. PubMed ID: 22190596
[TBL] [Abstract][Full Text] [Related]
16. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.
Zeitz C; Gross AK; Leifert D; Kloeckener-Gruissem B; McAlear SD; Lemke J; Neidhardt J; Berger W
Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):4105-14. PubMed ID: 18487375
[TBL] [Abstract][Full Text] [Related]
17. Genotyping microarray for CSNB-associated genes.
Zeitz C; Labs S; Lorenz B; Forster U; Uksti J; Kroes HY; De Baere E; Leroy BP; Cremers FP; Wittmer M; van Genderen MM; Sahel JA; Audo I; Poloschek CM; Mohand-Saïd S; Fleischhauer JC; Hüffmeier U; Moskova-Doumanova V; Levin AV; Hamel CP; Leifert D; Munier FL; Schorderet DF; Zrenner E; Friedburg C; Wissinger B; Kohl S; Berger W
Invest Ophthalmol Vis Sci; 2009 Dec; 50(12):5919-26. PubMed ID: 19578023
[TBL] [Abstract][Full Text] [Related]
18. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.
Yamamoto S; Sippel KC; Berson EL; Dryja TP
Nat Genet; 1997 Feb; 15(2):175-8. PubMed ID: 9020843
[TBL] [Abstract][Full Text] [Related]
19. NYX mutations in four families with high myopia with or without CSNB1.
Zhou L; Li T; Song X; Li Y; Li H; Dan H
Mol Vis; 2015; 21():213-23. PubMed ID: 25802485
[TBL] [Abstract][Full Text] [Related]
20. Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
Wang Q; Gao Y; Li S; Guo X; Zhang Q
Int J Mol Med; 2012 Sep; 30(3):521-6. PubMed ID: 22735794
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
