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Results: 1 to 20 of 99

1.

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.

Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Swider M, Herrera W, Stone EM.

Mol Vis. 2009 Jun 2;15:1098-106.

PMID:
19503738
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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]
3.

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM.

Invest Ophthalmol Vis Sci. 2008 Oct;49(10):4573-7. doi: 10.1167/iovs.08-2121. Epub 2008 Jun 6.

PMID:
18539930
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM.

Ophthalmology. 2007 May;114(5):895-8. Epub 2007 Feb 16.

PMID:
17306875
[PubMed - indexed for MEDLINE]
5.

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

Ramprasad VL, Soumittra N, Nancarrow D, Sen P, McKibbin M, Williams GA, Arokiasamy T, Lakshmipathy P, Inglehearn CF, Kumaramanickavel G.

Mol Vis. 2008 Mar 10;14:481-6.

PMID:
18334959
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
7.

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM.

Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):70-9. doi: 10.1167/iovs.10-6127.

PMID:
20702822
[PubMed - indexed for MEDLINE]
Free Article
8.

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.

Aleman TS, Cideciyan AV, Sumaroka A, Windsor EA, Herrera W, White DA, Kaushal S, Naidu A, Roman AJ, Schwartz SB, Stone EM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1580-90. doi: 10.1167/iovs.07-1110.

PMID:
18385078
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FP, Carracedo A, Ayuso C.

Ophthalmology. 2014 Jan;121(1):399-407. doi: 10.1016/j.ophtha.2013.08.028. Epub 2013 Oct 18.

PMID:
24144451
[PubMed - indexed for MEDLINE]
10.

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.

Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M.

Invest Ophthalmol Vis Sci. 2010 May;51(5):2608-14. doi: 10.1167/iovs.09-3734. Epub 2009 Dec 3.

PMID:
19959640
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.

Hauswirth WW, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L, Conlon TJ, Boye SL, Flotte TR, Byrne BJ, Jacobson SG.

Hum Gene Ther. 2008 Oct;19(10):979-90. doi: 10.1089/hum.2008.107.

PMID:
18774912
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5160-7.

PMID:
17962469
[PubMed - indexed for MEDLINE]
Free Article
13.

Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.

Caruso RC, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Mullins CL, Boye SL, Hauswirth WW, Jacobson SG.

Invest Ophthalmol Vis Sci. 2010 Oct;51(10):5304-13. doi: 10.1167/iovs.10-5559. Epub 2010 May 19.

PMID:
20484585
[PubMed - indexed for MEDLINE]
Free Article
14.

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.

Aleman TS, Cideciyan AV, Aguirre GK, Huang WC, Mullins CL, Roman AJ, Sumaroka A, Olivares MB, Tsai FF, Schwartz SB, Vandenberghe LH, Limberis MP, Stone EM, Bell P, Wilson JM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6898-910. doi: 10.1167/iovs.11-7701.

PMID:
21757580
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis.

Aleman TS, Jacobson SG, Chico JD, Scott ML, Cheung AY, Windsor EA, Furushima M, Redmond TM, Bennett J, Palczewski K, Cideciyan AV.

Invest Ophthalmol Vis Sci. 2004 Apr;45(4):1259-71.

PMID:
15037595
[PubMed - indexed for MEDLINE]
Free Article
16.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R.

Nat Genet. 2007 Jul;39(7):889-95. Epub 2007 Jun 3.

PMID:
17546029
[PubMed - indexed for MEDLINE]
17.

LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.

Seong MW, Kim SY, Yu YS, Hwang JM, Kim JY, Park SS.

Ophthalmic Genet. 2009 Mar;30(1):54-5. doi: 10.1080/13816810802592567.

PMID:
19172513
[PubMed - indexed for MEDLINE]
18.

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.

Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG.

Ophthalmology. 2003 Mar;110(3):549-58.

PMID:
12623820
[PubMed - indexed for MEDLINE]
19.

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
20.

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Gerber S, Hanein S, Perrault I, Delphin N, Aboussair N, Leowski C, Dufier JL, Roche O, Munnich A, Kaplan J, Rozet JM.

Hum Mutat. 2007 Dec;28(12):1245.

PMID:
18000884
[PubMed - indexed for MEDLINE]

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