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Items: 1 to 20 of 99

1.

Mutations in the CACNA1F and NYX genes in British CSNBX families.

Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ.

Hum Mutat. 2003 Feb;21(2):169.

PMID:
12552565
2.

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.

Allen LE, Zito I, Bradshaw K, Patel RJ, Bird AC, Fitzke F, Yates JR, Trump D, Hardcastle AJ, Moore AT.

Br J Ophthalmol. 2003 Nov;87(11):1413-20.

3.

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.

Zeitz C, Minotti R, Feil S, Mátyás G, Cremers FP, Hoyng CB, Berger W.

Mol Vis. 2005 Mar 2;11:179-83.

4.

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. doi: 10.3892/ijmm.2012.1039. Epub 2012 Jun 20.

PMID:
22735794
5.
6.

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
7.

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM.

Nat Genet. 1998 Jul;19(3):264-7.

PMID:
9662400
8.

Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.

Hardcastle AJ, David-Gray ZK, Jay M, Bird AC, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 1997 Dec;38(13):2750-5.

PMID:
9418727
9.

Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.

Dai S, Ying M, Wang K, Wang L, Han R, Hao P, Li N.

Sci Rep. 2015 Aug 3;5:12679. doi: 10.1038/srep12679.

10.
11.

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
12.

A novel CACNA1F gene mutation causes Aland Island eye disease.

Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T.

Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502.

PMID:
17525176
13.

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 1;13:330-6.

14.

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM.

Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25.

PMID:
23714322
15.

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT.

Hum Genet. 2001 Feb;108(2):91-7.

PMID:
11281458
16.

CSNB1 in Chinese families associated with novel mutations in NYX.

Xiao X, Jia X, Guo X, Li S, Yang Z, Zhang Q.

J Hum Genet. 2006;51(7):634-40. Epub 2006 May 3.

PMID:
16670814
17.

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.

Jalkanen R, Mäntyjärvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T, Bech-Hansen NT.

J Med Genet. 2006 Aug;43(8):699-704. Epub 2006 Feb 27.

18.

A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.

Kondo M, Das G, Imai R, Santana E, Nakashita T, Imawaka M, Ueda K, Ohtsuka H, Sakai K, Aihara T, Kato K, Sugimoto M, Ueno S, Nishizawa Y, Aguirre GD, Miyadera K.

PLoS One. 2015 Sep 14;10(9):e0137072. doi: 10.1371/journal.pone.0137072. eCollection 2015 Sep 14.

19.

A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness.

Gu Y, Wang L, Zhou J, Guo Q, Liu N, Ding Z, Li L, Liu X, An J, Yan G, Yao L, Zhang Z.

Mol Vis. 2008 Jan 9;14:20-8.

20.

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 Mar 5;21:213-23. eCollection 2015 Mar 5.

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