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Results: 1 to 20 of 132

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
[PubMed - indexed for MEDLINE]
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.

PMID:
14609846
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
15761389
[PubMed - indexed for MEDLINE]
Free Article
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.

Boycott KM, Pearce WG, Bech-Hansen NT.

Can J Ophthalmol. 2000 Jun;35(4):204-13.

PMID:
10900517
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
Free Article
8.

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
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

PMID:
17392683
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.

Vincent A, Wright T, Day MA, Westall CA, Héon E.

Mol Vis. 2011;17:3262-70. Epub 2011 Dec 15.

PMID:
22194652
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
18246026
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
Free Article
16.

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.

Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM.

Eur J Hum Genet. 2002 Aug;10(8):449-56.

PMID:
12111638
[PubMed - indexed for MEDLINE]
Free Article
17.

A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.

Jacobi FK, Hamel CP, Arnaud B, Blin N, Broghammer M, Jacobi PC, Apfelstedt-Sylla E, Pusch CM.

Am J Ophthalmol. 2003 May;135(5):733-6.

PMID:
12719097
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
Free Article
19.

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Rüther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A.

Nat Genet. 1998 Jul;19(3):260-3.

PMID:
9662399
[PubMed - indexed for MEDLINE]
20.

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG.

Nat Genet. 2000 Nov;26(3):319-23.

PMID:
11062471
[PubMed - indexed for MEDLINE]

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