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Results: 1 to 20 of 255

Similar articles for PubMed (Select 22264887)

1.

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ.

Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20.

PMID:
22264887
2.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.

Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15.

PMID:
23499059
3.

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.

Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha.2009.09.008. Epub 2010 Jan 15.

PMID:
20079539
4.

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.

Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7. doi: 10.1167/iovs.07-0471.

PMID:
18235024
5.

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.

Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1298-304.

PMID:
17325176
6.

Clinical course of cone dystrophy caused by mutations in the RPGR gene.

Thiadens AA, Soerjoesing GG, Florijn RJ, Tjiam AG, den Hollander AI, van den Born LI, Riemslag FC, Bergen AA, Klaver CC.

Graefes Arch Clin Exp Ophthalmol. 2011 Oct;249(10):1527-35. doi: 10.1007/s00417-011-1789-3. Epub 2011 Aug 25.

7.

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
8.

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.

Ophthalmology. 2009 Oct;116(10):1984-9.e1. doi: 10.1016/j.ophtha.2009.03.053. Epub 2009 Jul 9.

PMID:
19592100
9.

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 Jul 18.

10.

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.

Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.

Ophthalmology. 2002 Oct;109(10):1862-70.

PMID:
12359607
11.

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

Littink KW, Koenekoop RK, van den Born LI, Collin RW, Moruz L, Veltman JA, Roosing S, Zonneveld MN, Omar A, Darvish M, Lopez I, Kroes HY, van Genderen MM, Hoyng CB, Rohrschneider K, van Schooneveld MJ, Cremers FP, den Hollander AI.

Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5943-51. doi: 10.1167/iovs.10-5797. Epub 2010 Jun 16.

13.

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.

Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Hoyng CB.

Graefes Arch Clin Exp Ophthalmol. 2005 Feb;243(2):90-100. Epub 2004 Dec 22.

PMID:
15614537
14.

Cone-rod dystrophy can be a manifestation of Danon disease.

Thiadens AA, Slingerland NW, Florijn RJ, Visser GH, Riemslag FC, Klaver CC.

Graefes Arch Clin Exp Ophthalmol. 2012 May;250(5):769-74. doi: 10.1007/s00417-011-1857-8.

15.

Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.

Klevering BJ, Maugeri A, Wagner A, Go SL, Vink C, Cremers FP, Hoyng CB.

Ophthalmology. 2004 Mar;111(3):546-53.

PMID:
15019334
16.

Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy.

Birch DG, Anderson JL, Fish GE.

Ophthalmology. 1999 Feb;106(2):258-68.

PMID:
9951474
17.

Cone rod dystrophies.

Hamel CP.

Orphanet J Rare Dis. 2007 Feb 1;2:7. Review.

18.

Progressive cone dystrophy associated with mutation in CNGB3.

Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM.

Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82.

PMID:
15161866
19.

Phenotype in two families with RP3 associated with RPGR mutations.

Lorenz B, Andrassi M, Kretschmann U.

Ophthalmic Genet. 2003 Jun;24(2):89-101.

PMID:
12789573
20.

Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.

Zahid S, Khan N, Branham K, Othman M, Karoukis AJ, Sharma N, Moncrief A, Mahmood MN, Sieving PA, Swaroop A, Heckenlively JR, Jayasundera T.

JAMA Ophthalmol. 2013 Aug;131(8):1016-25. doi: 10.1001/jamaophthalmol.2013.120.

PMID:
23681342
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