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Items: 1 to 20 of 266

1.

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.

2.

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
3.

A Japanese pedigree of autosomal dominant congenital stationary night blindness with variable expressivity.

Hayakawa M, Imai Y, Wakita M, Kato K, Yanashima K, Miyake Y, Kanai A.

Ophthalmic Paediatr Genet. 1992 Dec;13(4):211-7.

PMID:
1488221
4.
5.

[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. Chinese.

PMID:
15940795
6.

[Congenital stationary night blindness].

Svĕrák J, Jebavá R, Peregrin J, Zizka J, Hartmann M.

Cesk Slov Oftalmol. 1996 Jul;52(3):135-42. Czech.

PMID:
8768469
7.

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
9.

Autosomal dominant stationary night-blindness. A large family rediscovered.

Rosenberg T, Haim M, Piczenik Y, Simonsen SE.

Acta Ophthalmol (Copenh). 1991 Dec;69(6):694-702.

PMID:
1789082
10.
11.

Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23.

Bech-Hansen NT, Boycott KM, Gratton KJ, Ross DA, Field LL, Pearce WG.

Hum Genet. 1998 Aug;103(2):124-30.

PMID:
9760193
12.

Congenital stationary night blindness.

Haim M.

Acta Ophthalmol (Copenh). 1986 Apr;64(2):192-8.

PMID:
3487908
13.

Congenital stationary night blindness and a "Schubert-Bornschein" type electrophysiology in a family with dominant inheritance.

Kabanarou SA, Holder GE, Fitzke FW, Bird AC, Webster AR.

Br J Ophthalmol. 2004 Aug;88(8):1018-22.

14.

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
15.

Characteristic ERG-flicker anomaly in incomplete congenital stationary night blindness.

Miyake Y, Horiguchi M, Ota I, Shiroyama N.

Invest Ophthalmol Vis Sci. 1987 Nov;28(11):1816-23.

PMID:
3499417
16.

Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type.

Langrová H, Gamer D, Friedburg C, Besch D, Zrenner E, Apfelstedt-Sylla E.

Vision Res. 2002 May;42(11):1475-83.

18.

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
19.

The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness.

Tremblay F, Laroche RG, De Becker I.

Vision Res. 1995 Aug;35(16):2383-93.

20.

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

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