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Items: 1 to 20 of 139

1.

Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.

Mellott ML, Brown J Jr, Fingert JH, Taylor CM, Keech RV, Sheffield VC, Stone EM.

Arch Ophthalmol. 1999 Dec;117(12):1630-3.

PMID:
10604668
2.

Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1).

Kerrison JB, Giorda R, Lenart TD, Drack AV, Maumenee IH.

Ophthalmic Genet. 2001 Dec;22(4):241-8.

PMID:
11803490
3.

X-linked high myopia associated with cone dysfunction.

Young TL, Deeb SS, Ronan SM, Dewan AT, Alvear AB, Scavello GS, Paluru PC, Brott MS, Hayashi T, Holleschau AM, Benegas N, Schwartz M, Atwood LD, Oetting WS, Rosenberg T, Motulsky AG, King RA.

Arch Ophthalmol. 2004 Jun;122(6):897-908.

PMID:
15197065
4.

[Mapping of a pedigree with congenital nystagmus].

Liu ZR, Zhang BR, Ding MP, Xia K, Hu ZM, Deng H, Xia JH.

Yi Chuan. 2004 Jul;26(4):437-40. Chinese.

PMID:
15640035
5.

Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN).

Oetting WS, Armstrong CM, Holleschau AM, DeWan AT, Summers GC.

Ophthalmic Genet. 2000 Dec;21(4):227-33.

PMID:
11135493
6.

Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family.

Zhang B, Xia K, Ding M, Liang D, Liu Z, Pan Q, Hu Z, Wu LQ, Cai F, Xia J.

Hum Genet. 2005 Jan;116(1-2):128-31. Epub 2004 Oct 23.

PMID:
15517395
7.

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.

Kellner U, Wissinger B, Tippmann S, Kohl S, Kraus H, Foerster MH.

Graefes Arch Clin Exp Ophthalmol. 2004 Sep;242(9):729-35.

PMID:
15069569
8.

Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.

Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2010 Aug;51(8):3884-92. doi: 10.1167/iovs.09-4592. Epub 2010 Mar 10.

PMID:
20220053
9.

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)

Brown J Jr, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM.

Arch Ophthalmol. 1997 Jan;115(1):95-9. Erratum in: Arch Ophthalmol 1997 May;115(5):663.

PMID:
9006432
10.

X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.

Shiels A, Bennett TM, Prince JB, Tychsen L.

Mol Vis. 2007 Nov 29;13:2233-41.

PMID:
18087240
11.

Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy.

Mäntyjärvi M, Nurmenniemi P, Partanen J, Myöhänen T, Peippo M, Alitalo T.

Acta Ophthalmol Scand. 2001 Aug;79(4):359-65.

12.

Correlation of gene structure and psychophysical measurement in red-green color vision deficiency in Chinese.

Zhang Q, Xiao X, Shen H, Li S, Jiang F.

Jpn J Ophthalmol. 2000 Nov-Dec;44(6):596-600.

PMID:
11094172
13.

Oligocone trichromacy: clinical and molecular genetic investigations.

Andersen MK, Christoffersen NL, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T.

Invest Ophthalmol Vis Sci. 2010 Jan;51(1):89-95. doi: 10.1167/iovs.09-3988. Epub 2009 Sep 24.

PMID:
19797231
14.

Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree.

Brown J Jr, Kimura AE, Gorin MB.

Ophthalmology. 2000 Jun;107(6):1104-10. Erratum in: Ophthalmology 2000 Aug;107(8):1440.

PMID:
10857830
15.

Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.

Hope CI, Sharp DM, Hemara-Wahanui A, Sissingh JI, Lundon P, Mitchell EA, Maw MA, Clover GM.

Clin Exp Ophthalmol. 2005 Apr;33(2):129-36.

PMID:
15807819
16.

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1.

Li L, Xiao X, Yi C, Jiao X, Guo X, Hejtmancik JF, Zhang Q.

J Hum Genet. 2012 Dec;57(12):756-9. doi: 10.1038/jhg.2012.103. Epub 2012 Aug 23.

PMID:
22914672
17.

Deletion in the OA1 gene in a family with congenital X linked nystagmus.

Preising M, Op de Laak JP, Lorenz B.

Br J Ophthalmol. 2001 Sep;85(9):1098-103.

18.

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

Cabot A, Rozet JM, Gerber S, Perrault I, Ducroq D, Smahi A, Souied E, Munnich A, Kaplan J.

Am J Hum Genet. 1999 Apr;64(4):1141-6.

19.

X-linked cone dysfunction syndrome with myopia and protanopia.

Michaelides M, Johnson S, Bradshaw K, Holder GE, Simunovic MP, Mollon JD, Moore AT, Hunt DM.

Ophthalmology. 2005 Aug;112(8):1448-54.

PMID:
15953640
20.

Detection of female carriers of congenital color-vision deficiencies by visual pigment gene analysis.

Oda S, Ueyama H, Tanabe S, Tanaka Y, Yamade S, Kani K.

Curr Eye Res. 2000 Oct;21(4):767-73.

PMID:
11120566

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