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Items: 1 to 20 of 348

1.

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. doi: 10.1167/iovs.08-1717. Epub 2008 May 16.

PMID:
18487375
2.
3.

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. doi: 10.1167/iovs.09-3548. Epub 2009 Jul 2.

PMID:
19578023
5.

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.

PMID:
16565402
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.

7.

Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.

Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R.

Acta Ophthalmol Scand. 2007 May;85(3):287-97.

8.

Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.

Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M.

Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):880-4.

9.

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W.

Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35.

PMID:
16249515
10.

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.

PMID:
9888392
11.

A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.

Manes G, Cheguru P, Majumder A, Bocquet B, Sénéchal A, Artemyev NO, Hamel CP, Brabet P.

PLoS One. 2014 Apr 23;9(4):e95768. doi: 10.1371/journal.pone.0095768. eCollection 2014.

12.

Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).

Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.

Invest Ophthalmol Vis Sci. 2001 Sep;42(10):2217-24.

PMID:
11527933
13.

Novel dominant rhodopsin mutation triggers two mechanisms of retinal degeneration and photoreceptor desensitization.

Iakhine R, Chorna-Ornan I, Zars T, Elia N, Cheng Y, Selinger Z, Minke B, Hyde DR.

J Neurosci. 2004 Mar 10;24(10):2516-26.

14.

[A novel rhodopsin E341ter mutation in patients with retinitis pigmentosa and corresponding clinical phenotype].

Xiong S, Zhao K, Wang L, Wang L, Cui Y, Chen W, Wang L, Wang Q.

Zhonghua Yan Ke Za Zhi. 2002 Apr;38(4):224-7. Chinese.

PMID:
12133392
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 13;53(3):1353-61. doi: 10.1167/iovs.11-8026. Print 2012 Mar.

16.

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.

PMID:
11381068
17.

A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa.

Zhang XL, Liu M, Meng XH, Fu WL, Yin ZQ, Zhang X, Huang JF.

Chin Med Sci J. 2005 Mar;20(1):30-4.

PMID:
15844309
18.

A common NYX mutation in Flemish patients with X linked CSNB.

Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C.

Br J Ophthalmol. 2009 May;93(5):692-6. doi: 10.1136/bjo.2008.143727. Epub 2008 Jul 10.

PMID:
18617546
19.

Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa.

Budu, Matsumoto M, Hayasaka S, Yamada T, Hayasaka Y.

Jpn J Ophthalmol. 2000 Nov-Dec;44(6):610-4.

PMID:
11094174
20.

Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.

Tsang SH, Woodruff ML, Jun L, Mahajan V, Yamashita CK, Pedersen R, Lin CS, Goff SP, Rosenberg T, Larsen M, Farber DB, Nusinowitz S.

Hum Mutat. 2007 Mar;28(3):243-54.

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