Resultats de la cerca - Rob W.J. Collin

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  1. 1
    Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges

    Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges per Irene Vázquez-Domínguez, Alejandro Garanto, Rob W.J. Collin

    Publicat 2019
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  2. 2
    Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease

    Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease per Alejandro Garanto, Lonneke Duijkers, Tomasz Z. Tomkiewicz, Rob W.J. Collin

    Publicat 2019
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  3. 3
    Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

    Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations per Frans P.M. Cremers, Winston Lee, Rob W.J. Collin, Rando Allikmets

    Publicat 2020
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  4. 4
    Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4

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

    Publicat 2021
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  5. 5
    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 per Alejandro Garanto, Sylvia E. C. van Beersum, Theo Peters, Ronald Roepman, Frans P.M. Cremers, Rob W.J. Collin

    Publicat 2013
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  6. 6
    A look into retinal organoids: methods, analytical techniques, and applications

    A look into retinal organoids: methods, analytical techniques, and applications per Tess A. V. Afanasyeva, Julio C. Corral-Serrano, Alejandro Garanto, Ronald Roepman, Michael E. Cheetham, Rob W.J. Collin

    Publicat 2021
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  7. 7
    Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish

    Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish per Muriël Messchaert, Margo Dona, Sanne Broekman, Theo Peters, Julio C. Corral-Serrano, Ralph Slijkerman, Erwin van Wijk, Rob W.J. Collin

    Publicat 2018
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  8. 8
    Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

    Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290 per Rob W.J. Collin, Anneke I. den Hollander, Saskia D. van der Velde-Visser, Jeannette Bennicelli, Jean Bennett, Frans P.M. Cremers

    Publicat 2012
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  9. 9
    <i>In vitro</i>and<i>in vivo</i>rescue of aberrant splicing in<i>CEP290</i>-associated LCA by antisense oligonucleotide delivery

    <i>In vitro</i>and<i>in vivo</i>rescue of aberrant splicing in<i>CEP290</i>-associated LCA by antisense oligonucleotide delivery per Alejandro Garanto, Daniel C. Chung, Lonneke Duijkers, Julio C. Corral-Serrano, Muriël Messchaert, Ru Xiao, Jean Bennett, Luk H. Vandenberghe, Rob W.J. Collin

    Publicat 2016
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  10. 10
    Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

    Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark per Galuh Astuti, Mette Bertelsen, Markus N. Preising, Muhammad Ajmal, Birgit Lorenz, Sultana MH Faradz, Raheel Qamar, Rob W.J. Collin, Thomas Rosenberg, Frans P.M. Cremers

    Publicat 2015
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  11. 11
    Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome

    Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome per Karin W. Littink, Patricia Stappers, Frans C. C. Riemslag, Herman E. Talsma, Maria van Genderen, Frans P.M. Cremers, Rob W.J. Collin, L. van den Born

    Publicat 2018
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  12. 12
    Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

    Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease per Sílvia Albert, Alejandro Garanto, Riccardo Sangermano, Mubeen Khan, Nathalie M. Bax, Carel B. Hoyng, Jana Zernant, Winston Lee, Rando Allikmets, Rob W.J. Collin, Frans P.M. Cremers

    Publicat 2018
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  13. 13
    Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T&gt;C

    Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T&gt;C per Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang‐Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard Platenburg, Jim Swildens

    Publicat 2023
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  14. 14
    <i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

    <i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease per Riccardo Sangermano, Mubeen Khan, Stéphanie S. Cornelis, Valerie Richelle, Sílvia Albert, Alejandro Garanto, Duaa Elmelik, Raheel Qamar, Dorien Lugtenberg, L. Ingeborgh van den Born, Rob W.J. Collin, Frans P.M. Cremers

    Publicat 2017
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  15. 15
    Approaches for corneal endothelium regenerative medicine

    Approaches for corneal endothelium regenerative medicine per Pere Català, Gilles Thuret, Heli Skottman, Jodhbir S. Mehta, Mohit Parekh, Sorcha Ní Dhubhghaill, Rob W.J. Collin, Rudy M.M.A. Nuijts, Stefano Ferrari, Vanessa L.S. LaPointe, Mor M. Dickman

    Publicat 2021
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  16. 16
    Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids

    Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids per Dimitra Athanasiou, Tess A. V. Afanasyeva, Niuzheng Chai, Kalliopi Ziaka, Katarina Jovanović, Rosellina Guarascio, Karsten Boldt, Julio C. Corral-Serrano, Naheed Kanuga, Ronald Roepman, Rob W.J. Collin, Michael E. Cheetham

    Publicat 2025
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  17. 17
    Non-syndromic retinitis pigmentosa

    Non-syndromic retinitis pigmentosa per Sanne K. Verbakel, Ramon A. C. van Huet, Camiel J. F. Boon, Anneke I. den Hollander, Rob W.J. Collin, Caroline C. W. Klaver, Carel B. Hoyng, Ronald Roepman, B. Jeroen Klevering

    Publicat 2018
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  18. 18
    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 per Tess A. V. Afanasyeva, Dimitra Athanasiou, Pedro R.L. Perdigão, Katherine Whiting, Lonneke Duijkers, Galuh Astuti, Jean Bennett, Alejandro Garanto, Jacqueline van der Spuy, Ronald Roepman, Michael E. Cheetham, Rob W.J. Collin

    Publicat 2023
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  19. 19
    Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

    Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa per Rob W.J. Collin, Christine Safieh, Karin W. Littink, Stavit A. Shalev, Hanna J. Garzozi, Leah Rizel, Anan H Abbasi, Frans P.M. Cremers, Anneke I. den Hollander, B. Jeroen Klevering, Tamar Ben‐Yosef

    Publicat 2010
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  20. 20
    Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

    Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa per Hui Wang, Anneke I. den Hollander, Yalda Moayedi, Abuduaini Abulimiti, Yumei Li, Rob W.J. Collin, Carel B. Hoyng, Irma López, Molly S. Bray, Richard A. Lewis, James R. Lupski, Graeme Mardon, Robert K. Koenekoop, Rui Chen

    Publicat 2009
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