Hasil Pencarian - Alejandro Garanto

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  1. 1
    Species-Dependent Splice Recognition of a Cryptic Exon Resulting from a Recurrent Intronic CEP290 Mutation that Causes Congenital Blindness

    Species-Dependent Splice Recognition of a Cryptic Exon Resulting from a Recurrent Intronic CEP290 Mutation that Causes Congenital Blindness oleh Alejandro Garanto, Lonneke Duijkers, Rob W. J. Collin

    Diterbitkan 2015-03-01
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  2. 2
    mRNA expression analysis of the SUMO pathway genes in the adult mouse retina

    mRNA expression analysis of the SUMO pathway genes in the adult mouse retina oleh Víctor Abad-Morales, Elena B. Domènech, Alejandro Garanto, Gemma Marfany

    Diterbitkan 2015-01-01
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  3. 3
    Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in <i>ABCA4</i>

    Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in <i>ABCA4</i> oleh Tomasz Z. Tomkiewicz, Nuria Suárez-Herrera, Frans P. M. Cremers, Rob W. J. Collin, Alejandro Garanto

    Diterbitkan 2021-04-01
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  4. 4
    Correction of the Splicing Defect Caused by a Recurrent Variant in <i>ABCA4</i> (c.769-784C>T) That Underlies Stargardt Disease

    Correction of the Splicing Defect Caused by a Recurrent Variant in <i>ABCA4</i> (c.769-784C>T) That Underlies Stargardt Disease oleh Tomasz Z. Tomkiewicz, Sara E. Nieuwenhuis, Frans P. M. Cremers, Alejandro Garanto, Rob W. J. Collin

    Diterbitkan 2022-12-01
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  5. 5
    Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9

    Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9 oleh Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto

    Diterbitkan 2023-06-01
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  6. 6
    Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9

    Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9 oleh Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto

    Diterbitkan 2023-09-01
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  7. 7
    Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis

    Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis oleh Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Nael Nadif Kasri, Alejandro Garanto

    Diterbitkan 2024-09-01
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  8. 8
    Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH

    Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH oleh Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Antonia Ribes, Nael Nadif Kasri, Alejandro Garanto

    Diterbitkan 2024-09-01
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  9. 9
    Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.

    Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. oleh Alejandro Garanto, Sylvia E C van Beersum, Theo A Peters, Ronald Roepman, Frans P M Cremers, Rob W J Collin

    Diterbitkan 2013-01-01
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  10. 10
    Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A

    Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A oleh Nuria Suárez-Herrera, Nico Leijsten, Silvia Albert, Nathalie M. Bax, Carel B. Hoyng, Frans P.M. Cremers, Alejandro Garanto, Rob W.J. Collin

    Diterbitkan 2023-12-01
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  11. 11
    Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene

    Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene oleh Sarah de Jong, Louet Koolen, Irene Vázquez-Domínguez, Anita de Breuk, Silvia Albert, Carel B. Hoyng, Suresh Katti, Anneke I. den Hollander, Alejandro Garanto

    Diterbitkan 2022-07-01
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  12. 12
    Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene

    Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene oleh Sarah de Jong, Louet Koolen, Irene Vázquez-Domínguez, Anita de Breuk, Silvia Albert, Carel B. Hoyng, Suresh Katti, Anneke I. den Hollander, Alejandro Garanto

    Diterbitkan 2022-07-01
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  13. 13
    Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A&gt;G Mutation in CEP290

    Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A&gt;G Mutation in CEP290 oleh Lonneke Duijkers, L. Ingeborgh van den Born, John Neidhardt, Nathalie M. Bax, Laurence H. M. Pierrache, B. Jeroen Klevering, Rob W. J. Collin, Alejandro Garanto

    Diterbitkan 2018-03-01
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  14. 14
    Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme

    Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme oleh Siebren Faber, Olivier Mercey, Katrin Junger, Alejandro Garanto, Helen May-Simera, Marius Ueffing, Rob W.J. Collin, Karsten Boldt, Paul Guichard, Virginie Hamel, Ronald Roepman

    Diterbitkan 2023-05-01
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  15. 15
    Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles.

    Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles. oleh Mariona Esquerdo, Xavier Grau-Bové, Alejandro Garanto, Vasileios Toulis, Sílvia Garcia-Monclús, Erica Millo, Ma José López-Iniesta, Víctor Abad-Morales, Iñaki Ruiz-Trillo, Gemma Marfany

    Diterbitkan 2016-01-01
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  16. 16
    In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

    In or Out? New Insights on Exon Recognition through Splice-Site Interdependency oleh Mubeen Khan, Stéphanie S. Cornelis, Riccardo Sangermano, Iris J.M. Post, Amber Janssen Groesbeek, Jan Amsu, Christian Gilissen, Alejandro Garanto, Rob W.J. Collin, Frans P.M. Cremers

    Diterbitkan 2020-03-01
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  17. 17
    Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65

    Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65 oleh Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, Silvia Albert, Luke O'Gorman, Christian Gilissen, Frans P.M. Cremers, Rob W.J. Collin, Susanne Roosing, Alejandro Garanto

    Diterbitkan 2022-04-01
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  18. 18
    Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt Disease

    Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt Disease oleh Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin

    Diterbitkan 2024-03-01
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  19. 19
    CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids

    CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids oleh Tess A.V. Afanasyeva, Dimitra Athanasiou, Pedro R.L. Perdigao, Kae R. Whiting, Lonneke Duijkers, Galuh D.N. Astuti, Jean Bennett, Alejandro Garanto, Jacqueline van der Spuy, Ronald Roepman, Michael E. Cheetham, Rob W.J. Collin

    Diterbitkan 2023-06-01
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  20. 20
    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation oleh Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk

    Diterbitkan 2016-01-01
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