-
1
-
-
45549108950
-
Retinal laminar architecture in human retinitis pigmentosa caused by rhodopsin gene mutations
-
Aleman, T.S., Cideciyan, A.V, Sumaroka, A., Windsor, E.A., Herrera, W., White, D.A., Kaushal, S., Naidu, A., Roman, A.J., Schwartz, S.B., Stone, E.M., and Jacobson, S.G. (2008). Retinal laminar architecture in human retinitis pigmentosa caused by rhodopsin gene mutations. Invest. Ophthalmol. Vis. Sci. 49, 1580-1590.
-
(2008)
Invest. Ophthalmol. Vis. Sci.
, vol.49
, pp. 1580-1590
-
-
Aleman, T.S.1
Cideciyan, A.V.2
Sumaroka, A.3
Windsor, E.A.4
Herrera, W.5
White, D.A.6
Kaushal, S.7
Naidu, A.8
Roman, A.J.9
Schwartz, S.B.10
Stone, E.M.11
Jacobson, S.G.12
-
2
-
-
38549111184
-
A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews
-
DOI 10.1167/iovs.07-0736
-
Auslender, N., Sharon, D., Abbasi, A.H., Garzozi, H.J., Banin, E., and Ben-Yosef, T. (2007). A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews. Invest. Ophthalmol. Vis. Sci. 48, 5431-5438. (Pubitemid 351260841)
-
(2007)
Investigative Ophthalmology and Visual Science
, vol.48
, Issue.12
, pp. 5431-5438
-
-
Auslender, N.1
Sharon, D.2
Abbasi, A.H.3
Garzozi, H.J.4
Banin, E.5
Ben-Yosef, T.6
-
3
-
-
44249120315
-
Effect of gene therapy on visual function in Leber's congenital amaurosis
-
DOI 10.1056/NEJMoa0802268
-
Bainbridge, J.W., Smith, A.J., Barker, S.S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G.E., Stockman, A., Tyler, N., Petersen-Jones, S., Bhattacharya, S.S., Thrasher, A.J., Fitzke, F.W., Carter, B.J., Rubin, G.S., Moore, A.T., and Ali, R.R. (2008). Effect of gene therapy on visual function in Leber's congenital amaurosis. N. Engl. J. Med. 358, 2231-2239. (Pubitemid 351724452)
-
(2008)
New England Journal of Medicine
, vol.358
, Issue.21
, pp. 2231-2239
-
-
Bainbridge, J.W.B.1
Smith, A.J.2
Barker, S.S.3
Robbie, S.4
Henderson, R.5
Balaggan, K.6
Viswanathan, A.7
Holder, G.E.8
Stockman, A.9
Tyler, N.10
Petersen-Jones, S.11
Bhattacharya, S.S.12
Thrasher, A.J.13
Fitzke, F.W.14
Carter, B.J.15
Rubin, G.S.16
Moore, A.T.17
Ali, R.R.18
-
4
-
-
77954620055
-
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
-
Cideciyan, A.V. (2010). Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog. Retin. Eye Res. 29, 398-427.
-
(2010)
Prog. Retin. Eye Res.
, vol.29
, pp. 398-427
-
-
Cideciyan, A.V.1
-
5
-
-
34249677892
-
Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations
-
DOI 10.1364/JOSAA.24.001457
-
Cideciyan, A.V., Swider, M., Aleman, T.S., Roman, M.I., Su-maroka, A., Schwartz, S.B., Stone, E.M., and Jacobson, S.G. (2007). Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations. J. Opt. Soc. Am. A. Opt. Image Sci. Vis. 24, 1457-1467. (Pubitemid 46951573)
-
(2007)
Journal of the Optical Society of America A: Optics and Image Science, and Vision
, vol.24
, Issue.5
, pp. 1457-1467
-
-
Cideciyan, A.V.1
Swider, M.2
Aleman, T.S.3
Roman, M.I.4
Sumaroka, A.5
Schwartz, S.B.6
Stone, E.M.7
Jacobson, S.G.8
-
6
-
-
54449085219
-
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
-
Cideciyan, A.V., Aleman, T.S., Boye, S.L., Schwartz, S.B., Kaushal, S., Roman, A.J., Pang, J.J., Sumaroka, A., Windsor, E.A., Wilson, J.M., Flotte, T.R., Fishman, G.A., Heon, E., Stone, E.M., Byrne, B.J., Jacobson, S.G., and Hauswirth, W.W. (2008). Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc. Natl. Acad. Sci. U.S.A. 105, 15112-15117.
-
(2008)
Proc. Natl. Acad. Sci. U.S.A.
, vol.105
, pp. 15112-15117
-
-
Cideciyan, A.V.1
Aleman, T.S.2
Boye, S.L.3
Schwartz, S.B.4
Kaushal, S.5
Roman, A.J.6
Pang, J.J.7
Sumaroka, A.8
Windsor, E.A.9
Wilson, J.M.10
Flotte, T.R.11
Fishman, G.A.12
Heon, E.13
Stone, E.M.14
Byrne, B.J.15
Jacobson, S.G.16
Hauswirth, W.W.17
-
7
-
-
48449085738
-
Leber congenital amaurosis: Genes, proteins and disease mechanisms
-
Den Hollander, A.I., Roepman, R., Koenekoop, R.K., and Cremers, F.P. (2008). Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog. Retin. Eye Res. 27, 391-419.
-
(2008)
Prog. Retin. Eye Res.
, vol.27
, pp. 391-419
-
-
Den Hollander, A.I.1
Roepman, R.2
Koenekoop, R.K.3
Cremers, F.P.4
-
8
-
-
66849139597
-
Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: Imaging melanosome-specific au-tofluorescence
-
Gibbs, D., Cideciyan, A.V., Jacobson, S.G., and Williams, D.S. (2009). Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific au-tofluorescence. Invest. Ophthalmol. Vis. Sci. 50, 4386-4393.
-
(2009)
Invest. Ophthalmol. Vis. Sci.
, vol.50
, pp. 4386-4393
-
-
Gibbs, D.1
Cideciyan, A.V.2
Jacobson, S.G.3
Williams, D.S.4
-
9
-
-
0027242119
-
Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro
-
Hamel, C.P., Tsilou, E., Pfeffer, B.A., Hooks, J.J., Detrick, B., and Redmond, T.M. (1993). Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific micro-somal protein that is post-transcriptionally regulated in vitro. J. Biol. Chem. 268, 15751-15757. (Pubitemid 23222076)
-
(1993)
Journal of Biological Chemistry
, vol.268
, Issue.21
, pp. 15751-15757
-
-
Hamel, C.P.1
Tsilou, E.2
Pfeffer, B.A.3
Hooks, J.J.4
Detrick, B.5
Redmond, T.M.6
-
10
-
-
11144356431
-
Leber Congenital Amaurosis: Comprehensive Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition, and Genotype-Phenotype Correlations as a Strategy for Molecular Diagnosis
-
DOI 10.1002/humu.20010
-
Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T., Munier, F., Santos, L., Shalev, S., Zafeiriou, D., Dufier, J.L., Munnich, A., Rozet, J.M., and Kaplan, J. (2004). Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum. Mutat. 23, 306-317. (Pubitemid 38461512)
-
(2004)
Human Mutation
, vol.23
, Issue.4
, pp. 306-317
-
-
Hanein, S.1
Perrault, I.2
Gerber, S.3
Tanguy, G.4
Barbet, F.5
Ducroq, D.6
Calvas, P.7
Dollfus, H.8
Hamel, C.9
Lopponen, T.10
Munier, F.11
Santos, L.12
Shalev, S.13
Zafeiriou, D.14
Dufier, J.-L.15
Munnich, A.16
Rozet, J.-M.17
Kaplan, J.18
-
11
-
-
54949104686
-
Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular sub-retinal injection of adeno-associated virus gene vector: Short-term results of a phase i trial
-
Hauswirth, W.W., Aleman, T.S., Kaushal, S., Cideciyan, A.V., Schwartz, S.B., Wang, L., Conlon, T.J., Boye, S.L., Flotte, T.R., Byrne, B.J., and Jacobson, S.G. (2008). Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular sub-retinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum. Gene Ther. 19, 979-990.
-
(2008)
Hum. Gene Ther.
, vol.19
, pp. 979-990
-
-
Hauswirth, W.W.1
Aleman, T.S.2
Kaushal, S.3
Cideciyan, A.V.4
Schwartz, S.B.5
Wang, L.6
Conlon, T.J.7
Boye, S.L.8
Flotte, T.R.9
Byrne, B.J.10
Jacobson, S.G.11
-
12
-
-
0031732523
-
Relation of optical coherence tomography to microanatomy in normal and rd chickens
-
Huang, Y., Cideciyan, A.V., Papastergiou, G.I., Banin, E., Semple-Rowland, S.L., Milam, A.H., and Jacobson, S.G. (1998). Relation of optical coherence tomography to microanatomy in normal and rd chickens. Invest. Ophthalmol. Vis. Sci. 39, 2405-2416. (Pubitemid 28485652)
-
(1998)
Investigative Ophthalmology and Visual Science
, vol.39
, Issue.12
, pp. 2405-2416
-
-
Huang, Y.1
Cideciyan, A.V.2
Papastergiou, G.I.3
Banin, E.4
Semple-Rowland, S.L.5
Milam, A.H.6
Jacobson, S.G.7
-
13
-
-
0023002215
-
Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa
-
Jacobson, S.G., Voigt, W.J., Parel, J.M., Apáthy, P.P., Nghiem-Phu, L., Myers, S.W., and Patella, V.M. (1986). Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa. Ophthalmology 93, 1604-1611. (Pubitemid 17216939)
-
(1986)
Ophthalmology
, vol.93
, Issue.12
, pp. 1604-1611
-
-
Jacobson, S.G.1
Voigt, W.J.2
Parel, J.-M.3
-
14
-
-
0038364012
-
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
-
DOI 10.1093/hmg/ddg117
-
Jacobson, S.G., Cideciyan, A.V., Aleman, T.S., Pianta, M.J., Sumaroka, A., Schwartz, S.B., Smilko, E.E., Milam, A.H., Sheffield, V.C., and Stone, E.M. (2003). Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum. Mol. Genet. 12, 1073-1078. (Pubitemid 36553527)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.9
, pp. 1073-1078
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Aleman, T.S.3
Pianta, M.J.4
Sumaroka, A.5
Schwartz, S.B.6
Smilko, E.E.7
Milam, A.H.8
Sheffield, V.C.9
Stone, E.M.10
-
15
-
-
20944447776
-
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
-
DOI 10.1073/pnas.0500646102
-
Jacobson, S.G., Aleman, T.S., Cideciyan, A.V., Sumaroka, A., Schwartz, S.B., Windsor, E.A., Traboulsi, E.I., Heon, E., Pittler, S.J., Milam, A.H., Maguire, A.M., Palczewski, K., Stone, E.M., and Bennett, J. (2005). Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success. Proc. Natl. Acad. Sci. U.S.A. 102, 6177-6182. (Pubitemid 40594274)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.17
, pp. 6177-6182
-
-
Jacobson, S.G.1
Aleman, T.S.2
Cideciyan, A.V.3
Sumaroka, A.4
Schwartz, S.B.5
Windsor, E.A.M.6
Traboulsi, E.I.7
Heon, E.8
Pittler, S.J.9
Milam, A.H.10
Maguire, A.M.11
Palczewski, K.12
Stone, E.M.13
Bennett, J.14
-
16
-
-
33744495152
-
Safety of Recombinant Adeno-Associated Virus Type 2-RPE65 Vector Delivered by Ocular Subretinal Injection
-
DOI 10.1016/j.ymthe.2006.03.005, PII S1525001606000815
-
Jacobson, S.G., Acland, G.M., Aguirre, G.D., Aleman, T.S., Schwartz, S.B., Cideciyan, A.V., Zeiss, C.J., Komaromy, A.M., Kaushal, S., Roman, A.J., Windsor, E.A., Sumaroka, A., Pearce-Kelling, S.E., Conlon, T.J., Chiodo, V.A., Boye, S.L., Flotte, T.R., Maguire, A.M., Bennett, J., and Hauswirth, W.W. (2006). Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Mol. Ther. 13, 1074-1084. (Pubitemid 43796158)
-
(2006)
Molecular Therapy
, vol.13
, Issue.6
, pp. 1074-1084
-
-
Jacobson, S.G.1
Acland, G.M.2
Aguirre, G.D.3
Aleman, T.S.4
Schwartz, S.B.5
Cideciyan, A.V.6
Zeiss, C.J.7
Komaromy, A.M.8
Kaushal, S.9
Roman, A.J.10
Windsor, E.A.M.11
Sumaroka, A.12
Pearce-Kelling, S.E.13
Conlon, T.J.14
Chiodo, V.A.15
Boye, S.L.16
Flotte, T.R.17
Maguire, A.M.18
Bennett, J.19
Hauswirth, W.W.20
more..
-
17
-
-
35448972058
-
Human cone photoreceptor dependence on RPE65 isomerase
-
DOI 10.1073/pnas.0706367104
-
Jacobson, S.G., Aleman, T.S., Cideciyan, A.V., Heon, E., Golczak, M., Beltran, W.A., Sumaroka, A., Schwartz, S.B., Roman, A.J., Windsor, E.A., Wilson, J.M., Aguirre, G.D., Stone, E.M., and Palczewski, K. (2007). Human cone photoreceptor dependence on RPE65 isomerase. Proc. Natl. Acad. Sci. U.S.A. 104, 15123-15128. (Pubitemid 47619603)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.38
, pp. 15123-15128
-
-
Jacobson, S.G.1
Aleman, T.S.2
Cideciyan, A.V.3
Heon, E.4
Golczak, M.5
Beltran, W.A.6
Sumaroka, A.7
Schwartz, S.B.8
Roman, A.J.9
Windsor, E.A.M.10
Wilson, J.M.11
Aguirre, G.D.12
Stone, E.M.13
Palczewski, K.14
-
18
-
-
53449092841
-
Photoreceptor layer topography in children with Leber congenital amaurosis caused by RPE65 mutations
-
Jacobson, S.G., Cideciyan, A.V., Aleman, T.S., Sumaroka, A., Windsor, E.A., Schwartz, S.B., Heon, E., and Stone, E.M. (2008). Photoreceptor layer topography in children with Leber congenital amaurosis caused by RPE65 mutations. Invest. Ophthalmol. Vis. Sci. 49, 4573-4577.
-
(2008)
Invest. Ophthalmol. Vis. Sci.
, vol.49
, pp. 4573-4577
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Aleman, T.S.3
Sumaroka, A.4
Windsor, E.A.5
Schwartz, S.B.6
Heon, E.7
Stone, E.M.8
-
19
-
-
65549112569
-
Defining the residual vision in Leber congenital amaurosis caused by RPE65 mutations
-
Jacobson, S.G., Aleman, T.S., Cideciyan, A.V., Roman, A.J., Sumaroka, A., Windsor, E.A., Schwartz, S.B., Heon, E., and Stone, E.M. (2009a). Defining the residual vision in Leber congenital amaurosis caused by RPE65 mutations. Invest. Ophthalmol. Vis. Sci. 50, 2368-2375.
-
(2009)
Invest. Ophthalmol. Vis. Sci.
, vol.50
, pp. 2368-2375
-
-
Jacobson, S.G.1
Aleman, T.S.2
Cideciyan, A.V.3
Roman, A.J.4
Sumaroka, A.5
Windsor, E.A.6
Schwartz, S.B.7
Heon, E.8
Stone, E.M.9
-
20
-
-
64049105380
-
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations
-
Jacobson, S.G., Aleman, T.S., Sumaroka, A., Cideciyan, A.V., Roman, A.J., Windsor, E.A., Schwartz, S.B., Rehm, H.L., and Kimberling, W.J. (2009b). Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Invest. Ophthalmol. Vis. Sci. 50, 1886-1894.
-
(2009)
Invest. Ophthalmol. Vis. Sci.
, vol.50
, pp. 1886-1894
-
-
Jacobson, S.G.1
Aleman, T.S.2
Sumaroka, A.3
Cideciyan, A.V.4
Roman, A.J.5
Windsor, E.A.6
Schwartz, S.B.7
Rehm, H.L.8
Kimberling, W.J.9
-
21
-
-
23744447355
-
Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium
-
DOI 10.1016/j.cell.2005.06.042, PII S0092867405006963
-
Jin, M., Li, S., Moghrabi, W.N., Sun, H., and Travis, G.H. (2005). Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium. Cell 122, 449-459. (Pubitemid 41127145)
-
(2005)
Cell
, vol.122
, Issue.3
, pp. 449-459
-
-
Jin, M.1
Li, S.2
Moghrabi, W.N.3
Sun, H.4
Travis, G.H.5
-
22
-
-
44249085878
-
Safety and efficacy of gene transfer for Leber's congenital amaurosis
-
DOI 10.1056/NEJMoa0802315
-
Maguire, A.M., Simonelli, F., Pierce, E.A., Pugh, E.N., Jr, Min-gozzi, F., Bennicelli, J., Banfi, S., Marshall, K.A., Testa, F., Surace, E.M., Rossi, S., Lyubarsky, A., Arruda, V.R., Konkle, B., Stone, E., Sun, J., Jacobs, J., Dell'Osso, L., Hertle, R., Ma, J.X., Redmond, T.M., Zhu, X., Hauck, B., Zelenaia, O., Shindler, K.S., Maguire, M.G., Wright, J.F., Volpe, N.J., McDonnell, J.W., Auricchio, A., High, K.A., and Bennett, J. (2008). Safety and efficacy of gene transfer for Leber's congenital amaurosis. N. Engl. J. Med. 358, 2240-2248. (Pubitemid 351724453)
-
(2008)
New England Journal of Medicine
, vol.358
, Issue.21
, pp. 2240-2248
-
-
Maguire, A.M.1
Simonelli, F.2
Pierce, E.A.3
Pugh Jr., E.N.4
Mingozzi, F.5
Bennicelli, J.6
Banfi, S.7
Marshall, K.A.8
Testa, F.9
Surace, E.M.10
Rossi, S.11
Lyubarsky, A.12
Arruda, V.R.13
Konkle, B.14
Stone, E.15
Sun, J.16
Jacobs, J.17
Dell'Osso, L.18
Hertle, R.19
Ma, J.-X.20
Redmond, T.M.21
Zhu, X.22
Hauck, B.23
Zelenaia, O.24
Shindler, K.S.25
Maguire, M.G.26
Wright, J.F.27
Volpe, N.J.28
McDonnell, J.W.29
Auricchio, A.30
High, K.A.31
Bennett, J.32
more..
-
23
-
-
24644507141
-
RPE65 is the isomerohydrolase in the retinoid visual cycle
-
DOI 10.1073/pnas.0503460102
-
Moiseyev, G., Chen, Y., Takahashi, Y., Wu, B.X., and Ma, J.X. (2005). RPE65 is the isomerohydrolase in the retinoid visual cycle. Proc. Natl. Acad. Sci. U.S.A. 102, 12413-12418. (Pubitemid 41266373)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.35
, pp. 12413-12418
-
-
Moiseyev, G.1
Chen, Y.2
Takahashi, Y.3
Wu, B.X.4
Ma, J.-X.5
-
24
-
-
17344366357
-
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
-
DOI 10.1038/3813
-
Redmond, T.M., Yu, S., Lee, E., Bok, D., Hamasaki, D., Chen, N., Goletz, P., Ma, J.X., Crouch, R.K., and Pfeifer, K. (1998). Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat. Genet. 20, 344-351. (Pubitemid 28541631)
-
(1998)
Nature Genetics
, vol.20
, Issue.4
, pp. 344-351
-
-
Redmond, T.M.1
Yu, S.2
Lee, E.3
Bok, D.4
Hamasaki, D.5
Chen, N.6
Goletz, P.7
Ma, J.-X.8
Crouch, R.K.9
Pfeifer, K.10
-
25
-
-
0036300177
-
DMLE+: Bayesian linkage disequilibrium gene mapping
-
Reeve, J.P., and Rannala, B. (2002). DMLE\+: Bayesian linkage disequilibrium gene mapping. Bioinformatics 18, 894-895. (Pubitemid 34727655)
-
(2002)
Bioinformatics
, vol.18
, Issue.6
, pp. 894-895
-
-
Reeve, J.P.1
Rannala, B.2
-
26
-
-
34548804452
-
Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials
-
DOI 10.1088/0967-3334/28/8/N02, PII S0967333407459263, N02
-
Roman, A.J., Cideciyan, A.V., Aleman, T.S., and Jacobson, S.G. (2007a). Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials. Physiol. Meas. 28, N51-N56. (Pubitemid 47421730)
-
(2007)
Physiological Measurement
, vol.28
, Issue.8
-
-
Roman, A.J.1
Cideciyan, A.V.2
Aleman, T.S.3
Jacobson, S.G.4
-
27
-
-
34748875980
-
Electroretinographic analyses of Rpe65-mutant rd12 mice: Developing an in vivo bioassay for human gene therapy trials of leber congenital amaurosis
-
Roman, A.J., Boye, S.L., Aleman, T.S., Pang, J.J., McDowell, J.H., Boye, S.E., Cideciyan, A.V., Jacobson, S.G., and Hauswirth, W.W. (2007b). Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. Mol Vis. 18, 1701-1710. (Pubitemid 47471192)
-
(2007)
Molecular Vision
, vol.13
, pp. 1701-1710
-
-
Roman, A.J.1
Boye, S.L.2
Aleman, T.S.3
Pang, J.-J.4
McDowell, J.H.5
Boye, S.E.6
Cideciyan, A.V.7
Jacobson, S.G.8
Hauswirth, W.W.9
-
28
-
-
70350236490
-
Genetic testing in Israel: An overview
-
Rosner, G., Rosner, S., and Orr-Urtreger, A. (2009). Genetic testing in Israel: an overview. Annu. Rev. Genomics Hum. Genet. 10, 175-192.
-
(2009)
Annu. Rev. Genomics Hum. Genet.
, vol.10
, pp. 175-192
-
-
Rosner, G.1
Rosner, S.2
Orr-Urtreger, A.3
-
29
-
-
35148888558
-
Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients
-
DOI 10.1167/iovs.07-0068
-
Simonelli, F., Ziviello, C., Testa, F., Rossi, S., Fazzi, E., Bianchi, P.E., Fossarello, M., Signorini, S., Bertone, C., Galantuomo, S., Brancati, F., Valente, E.M., Ciccodicola, A., Rinaldi, E., Aur-icchio, A., and Banfi, S. (2007). Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest. Ophthalmol. Vis. Sci. 48, 4284-4290. (Pubitemid 351261060)
-
(2007)
Investigative Ophthalmology and Visual Science
, vol.48
, Issue.9
, pp. 4284-4290
-
-
Simonelli, F.1
Ziviello, C.2
Testa, F.3
Rossi, S.4
Fazzi, E.5
Bianchi, P.E.6
Fossarello, M.7
Signorini, S.8
Bertone, C.9
Galantuomo, S.10
Brancati, F.11
Valente, E.M.12
Ciccodicola, A.13
Rinaldi, E.14
Auricchio, A.15
Banfi, S.16
-
30
-
-
36248964755
-
Leber congenital amaurosis-a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture
-
Stone, E.M. (2007). Leber congenital amaurosis-a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am. J. Ophthalmol. 144, 791-811.
-
(2007)
Am. J. Ophthalmol.
, vol.144
, pp. 791-811
-
-
Stone, E.M.1
-
31
-
-
0041829006
-
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population
-
Yzer, S., van den Born, L.I., Schuil, J., Kroes, H.Y., van Genderen, M.M., Boonstra, F.N., van den Helm, B., Brunner, H.G., Koe-nekoop, R.K., and Cremers, F.P. (2003). A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. J. Med. Genet. 40, 709-713. (Pubitemid 37100706)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.9
, pp. 709-713
-
-
Yzer, S.1
Van Den Born, L.I.2
Schuil, J.3
Kroes, H.Y.4
Van Genderen, M.M.5
Boonstra, F.N.6
Van Den Helm, B.7
Brunner, H.G.8
Koenekoop, R.K.9
Cremers, F.P.M.10
-
32
-
-
68949212294
-
Population programs for the detection of couples at risk for severe monogenic genetic diseases
-
Zlotogora, J. (2009). Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum. Genet. 126, 247-253.
-
(2009)
Hum. Genet.
, vol.126
, pp. 247-253
-
-
Zlotogora, J.1
-
33
-
-
0036428801
-
Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors
-
DOI 10.1016/S1046-2023(02)00220-7, PII S1046202302002207
-
Zolotukhin, S., Potter, M., Zolotukhin, I., Sakai, Y., Loiler, S., Fraites, T.J., Jr., Chiodom, V.A., Phillipsberg, T., Muzyczka, N., Hauswirth, W.W., Flotte, T.R., Byrne, B.J., and Snyder, R.O. (2002). Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors. Methods 28, 158-167. (Pubitemid 35341079)
-
(2002)
Methods
, vol.28
, Issue.2
, pp. 158-167
-
-
Zolotukhin, S.1
Potter, M.2
Zolotukhin, I.3
Sakai, Y.4
Loiler, S.5
Fraites Jr., T.J.6
Chiodo, V.A.7
Phillipsberg, T.8
Muzyczka, N.9
Hauswirth, W.W.10
Flotte, T.R.11
Byrne, B.J.12
Snyder, R.O.13
|