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Results: 1 to 20 of 74

1.

Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.

Kuniyoshi K, Sakuramoto H, Yoshitake K, Abe K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T.

Doc Ophthalmol. 2014 Jun;128(3):219-28. doi: 10.1007/s10633-014-9436-z. Epub 2014 Apr 22.

PMID:
24752437
[PubMed - indexed for MEDLINE]
2.

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]
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.

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R.

J Med Genet. 2013 Oct;50(10):674-88. doi: 10.1136/jmedgenet-2013-101558. Epub 2013 Jul 11.

PMID:
23847139
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.

Molday LL, Djajadi H, Yan P, Szczygiel L, Boye SL, Chiodo VA, Gregory-Evans K, Sarunic MV, Hauswirth WW, Molday RS.

Hum Mol Genet. 2013 Oct 1;22(19):3894-905. doi: 10.1093/hmg/ddt244. Epub 2013 Jun 4.

PMID:
23740938
[PubMed - indexed for MEDLINE]
6.

Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis.

Lustremant C, Habeler W, Plancheron A, Goureau O, Grenot L, de la Grange P, Audo I, Nandrot EF, Monville C.

Cell Reprogram. 2013 Jun;15(3):233-46. doi: 10.1089/cell.2012.0076. Epub 2013 May 10.

PMID:
23663011
[PubMed - indexed for MEDLINE]
7.

Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.

Chen Y, Zhang Q, Shen T, Xiao X, Li S, Guan L, Zhang J, Zhu Z, Yin Y, Wang P, Guo X, Wang J, Zhang Q.

Invest Ophthalmol Vis Sci. 2013 Jun 26;54(6):4351-7. doi: 10.1167/iovs.13-11606.

PMID:
23661368
[PubMed - indexed for MEDLINE]
Free Article
8.

Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2.

Testa F, Maguire AM, Rossi S, Pierce EA, Melillo P, Marshall K, Banfi S, Surace EM, Sun J, Acerra C, Wright JF, Wellman J, High KA, Auricchio A, Bennett J, Simonelli F.

Ophthalmology. 2013 Jun;120(6):1283-91. doi: 10.1016/j.ophtha.2012.11.048. Epub 2013 Mar 6.

PMID:
23474247
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Jonsson F, Burstedt MS, Sandgren O, Norberg A, Golovleva I.

Eur J Hum Genet. 2013 Nov;21(11):1266-71. doi: 10.1038/ejhg.2013.23. Epub 2013 Feb 27.

PMID:
23443024
[PubMed - indexed for MEDLINE]
10.

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.

McAnany JJ, Genead MA, Walia S, Drack AV, Stone EM, Koenekoop RK, Traboulsi EI, Smith A, Weleber RG, Jacobson SG, Fishman GA.

JAMA Ophthalmol. 2013 Feb;131(2):178-82. doi: 10.1001/2013.jamaophthalmol.354.

PMID:
23411883
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

Cideciyan AV, Jacobson SG, Beltran WA, Sumaroka A, Swider M, Iwabe S, Roman AJ, Olivares MB, Schwartz SB, Komáromy AM, Hauswirth WW, Aguirre GD.

Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E517-25. doi: 10.1073/pnas.1218933110. Epub 2013 Jan 22.

PMID:
23341635
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.

Roman AJ, Cideciyan AV, Schwartz SB, Olivares MB, Heon E, Jacobson SG.

Invest Ophthalmol Vis Sci. 2013 Feb 15;54(2):1378-83. doi: 10.1167/iovs.12-11341.

PMID:
23341016
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis.

Boye SL, Peshenko IV, Huang WC, Min SH, McDoom I, Kay CN, Liu X, Dyka FM, Foster TC, Umino Y, Karan S, Jacobson SG, Baehr W, Dizhoor A, Hauswirth WW, Boye SE.

Hum Gene Ther. 2013 Feb;24(2):189-202. doi: 10.1089/hum.2012.193.

PMID:
23210611
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

Jacobson SG, Cideciyan AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, Yau KW, Heon E, Stone EM, Dizhoor AM.

Hum Mol Genet. 2013 Jan 1;22(1):168-83. doi: 10.1093/hmg/dds421. Epub 2012 Oct 3.

PMID:
23035049
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosis.

Zheng Q, Ren Y, Tzekov R, Zhang Y, Chen B, Hou J, Zhao C, Zhu J, Zhang Y, Dai X, Ma S, Li J, Pang J, Qu J, Li W.

PLoS One. 2012;7(8):e44855. doi: 10.1371/journal.pone.0044855. Epub 2012 Aug 31.

PMID:
22953002
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.

Chiang PW, Wang J, Chen Y, Fu Q, Zhong J, Chen Y, Yi X, Wu R, Gan H, Shi Y, Chen Y, Barnett C, Wheaton D, Day M, Sutherland J, Heon E, Weleber RG, Gabriel LA, Cong P, Chuang K, Ye S, Sallum JM, Qi M.

Nat Genet. 2012 Sep;44(9):972-4. doi: 10.1038/ng.2370. Epub 2012 Jul 29.

PMID:
22842231
[PubMed - indexed for MEDLINE]
17.

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R.

Nat Genet. 2012 Sep;44(9):1035-9. doi: 10.1038/ng.2356. Epub 2012 Jul 29.

PMID:
22842230
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, Edelson C, Goldenberg A, Duncombe A, Le Meur G, Hamel C, Silva E, Nitschke P, Calvas P, Munnich A, Roche O, Dollfus H, Kaplan J, Rozet JM.

Nat Genet. 2012 Sep;44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29.

PMID:
22842229
[PubMed - indexed for MEDLINE]
19.

NMNAT1 mutations cause Leber congenital amaurosis.

Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA.

Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29.

PMID:
22842227
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients.

Melillo P, Pecchia L, Testa F, Rossi S, Bennett J, Simonelli F.

Biomed Eng Online. 2012 Jul 19;11:40. doi: 10.1186/1475-925X-11-40.

PMID:
22812667
[PubMed - indexed for MEDLINE]
Free PMC Article

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