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Results: 1 to 20 of 157

1.

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.

Ali M, Hocking PM, McKibbin M, Finnegan S, Shires M, Poulter JA, Prescott K, Booth A, Raashid Y, Jafri H, Ruddle JB, Mackey DA, Jacobson SG, Toomes C, Lester DH, Burt DW, Curry WJ, Inglehearn CF.

Invest Ophthalmol Vis Sci. 2011 Sep 27;52(10):7432-40. doi: 10.1167/iovs.11-7872.

PMID:
21862650
[PubMed - indexed for MEDLINE]
Free Article
2.

Profiling retinal biochemistry in the MPDZ mutant retinal dysplasia and degeneration chick: a model of human RP and LCA.

Beattie JR, Finnegan S, Hamilton RW, Ali M, Inglehearn CF, Stitt AW, McGarvey JJ, Hocking PM, Curry WJ.

Invest Ophthalmol Vis Sci. 2012 Jan 25;53(1):413-20. doi: 10.1167/iovs.11-8591.

PMID:
22159006
[PubMed - indexed for MEDLINE]
Free Article
3.

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK.

Hum Mutat. 2013 Nov;34(11):1537-46. doi: 10.1002/humu.22398. Epub 2013 Sep 17.

PMID:
23946133
[PubMed - indexed for MEDLINE]
4.

Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa.

Burt DW, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I, Downey LM, Thaung C, Bridges LR, Paton IR, Gentle M, Smith J, Hocking PM, Inglehearn CF.

Mol Vis. 2003 Apr 30;9:164-70.

PMID:
12724645
[PubMed - indexed for MEDLINE]
Free Article
5.

Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).

Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR.

Mol Vis. 2005 Feb 28;11:152-62.

PMID:
15765048
[PubMed - indexed for MEDLINE]
Free Article
6.

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR.

Am J Hum Genet. 2011 Jul 15;89(1):183-90. doi: 10.1016/j.ajhg.2011.06.002.

PMID:
21763485
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.

Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI.

Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3646-52. doi: 10.1167/iovs.09-5074. Epub 2010 Feb 3.

PMID:
20130272
[PubMed - indexed for MEDLINE]
Free Article
8.

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR.

Invest Ophthalmol Vis Sci. 2011 Mar 30;52(3):1880-6. doi: 10.1167/iovs.10-6043.

PMID:
20811058
[PubMed - indexed for MEDLINE]
Free Article
9.

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

van den Hurk JA, Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, Zonneveld MN, van Roekel MH, Cameron K, Rohrschneider K, Heckenlively JR, Koenekoop RK, Hoyng CB, Cremers FP, den Hollander AI.

Mol Vis. 2005 Apr 15;11:263-73.

PMID:
15851977
[PubMed - indexed for MEDLINE]
Free Article
10.

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.

Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.

Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97.

PMID:
9331262
[PubMed - indexed for MEDLINE]
Free Article
11.

RDH12 retinopathy: novel mutations and phenotypic description.

Mackay DS, Dev Borman A, Moradi P, Henderson RH, Li Z, Wright GA, Waseem N, Gandra M, Thompson DA, Bhattacharya SS, Holder GE, Webster AR, Moore AT.

Mol Vis. 2011;17:2706-16. Epub 2011 Oct 19.

PMID:
22065924
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Genotype-phenotype correlation of mouse pde6b mutations.

Hart AW, McKie L, Morgan JE, Gautier P, West K, Jackson IJ, Cross SH.

Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3443-50. Erratum in: Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5170.

PMID:
16123450
[PubMed - indexed for MEDLINE]
Free Article
13.

Predominant rod photoreceptor degeneration in Leber congenital amaurosis.

van der Spuy J, Munro PM, Luthert PJ, Preising MN, Bek T, Heegaard S, Cheetham ME.

Mol Vis. 2005 Jul 22;11:542-53.

PMID:
16052170
[PubMed - indexed for MEDLINE]
Free Article
14.

Altered expression of retinal molecular markers in the canine RPE65 model of Leber congenital amaurosis.

Hernández M, Pearce-Kelling SE, Rodriguez FD, Aguirre GD, Vecino E.

Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6793-802. doi: 10.1167/iovs.10-5213. Epub 2010 Jul 29.

PMID:
20671290
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.

Friedman JS, Chang B, Krauth DS, Lopez I, Waseem NH, Hurd RE, Feathers KL, Branham KE, Shaw M, Thomas GE, Brooks MJ, Liu C, Bakeri HA, Campos MM, Maubaret C, Webster AR, Rodriguez IR, Thompson DA, Bhattacharya SS, Koenekoop RK, Heckenlively JR, Swaroop A.

Proc Natl Acad Sci U S A. 2010 Aug 31;107(35):15523-8. doi: 10.1073/pnas.1002897107. Epub 2010 Aug 16.

PMID:
20713727
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R.

Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3052-9.

PMID:
16123401
[PubMed - indexed for MEDLINE]
Free Article
17.

Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

Estrada-Cuzcano A, Roepman R, Cremers FP, den Hollander AI, Mans DA.

Hum Mol Genet. 2012 Oct 15;21(R1):R111-24. Epub 2012 Jul 26. Review.

PMID:
22843501
[PubMed - indexed for MEDLINE]
Free Article
18.

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP.

Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1167-76.

PMID:
16505055
[PubMed - indexed for MEDLINE]
Free Article
19.

Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.

Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.

Gene. 2013 Oct 10;528(2):178-82. doi: 10.1016/j.gene.2013.07.021. Epub 2013 Jul 27.

PMID:
23900199
[PubMed - indexed for MEDLINE]
20.

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A.

Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4293-9.

PMID:
11095629
[PubMed - indexed for MEDLINE]
Free Article

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