The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss מאת Suzanne E. de Bruijn, Zeinab Fadaie, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing

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

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

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Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families מאת Naeimeh Tayebi, Oyediran Akinrinade, Muhammad Imran Khan, Arash Hejazifar, Alireza Dehghani, Frans P.M. Cremers, Mohammadreza Akhlaghi

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Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. מאת Nicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, Frans P M Cremers, Susanne Kohl, Bernd Wissinger, Ditta Zobor

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QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease מאת Melita Kaltak, Petra de Bruijn, Willemijn van Leeuwen, Gerard Platenburg, Frans P. M. Cremers, Rob W. J. Collin, Jim Swildens

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

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Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. מאת Qin Liu, Rob W J Collin, Frans P M Cremers, Anneke I den Hollander, L Ingeborgh van den Born, Eric A Pierce

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The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy מאת Sanne K. Verbakel, Zeinab Fadaie, B. Jeroen Klevering, Maria M. van Genderen, Ilse Feenstra, Frans P. M. Cremers, Carel B. Hoyng, Susanne Roosing

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

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Novel and Recurrent Copy Number Variants in <i>ABCA4</i>-Associated Retinopathy מאת Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier, Sandro Banfi, Marianthi Karali, Frans P. M. Cremers, Rebekkah J. Hitti-Malin

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Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <i>BBS9</i> מאת Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P. M. Cremers, Susanne Roosing, Tamar Ben-Yosef

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Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function מאת Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P. M. Cremers

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Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <i>USH2A</i> מאת Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos, Emma van Berkel, Monika Ołdak, Erwin van Wijk, Hannie Kremer, Susanne Roosing, Frans P. M. Cremers

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In or Out? New Insights on Exon Recognition through Splice-Site Interdependency מאת 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

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Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65 מאת 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

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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 מאת 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

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Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients מאת Avigail Beryozkin, Hamzah Aweidah, Roque Daniel Carrero Valenzuela, Myriam Berman, Oscar Iguzquiza, Frans P. M. Cremers, Muhammad Imran Khan, Anand Swaroop, Radgonde Amer, Samer Khateb, Tamar Ben-Yosef, Dror Sharon, Eyal Banin

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A proteogenomic atlas of the human neural retina מאת Tabea V. Riepe, Tabea V. Riepe, Tabea V. Riepe, Tabea V. Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey, Alfredo Dueñas Rey, Suzanne E. de Bruijn, Suzanne E. de Bruijn, Erica Boonen, Erica Boonen, Erica Boonen, Tomasz Z. Tomkiewicz, Tomasz Z. Tomkiewicz, Tomasz Z. Tomkiewicz, Michael Kwint, Jolein Gloerich, Hans J. C. T. Wessels, Emma Delanote, Emma Delanote, Elfride De Baere, Elfride De Baere, Filip van Nieuwerburgh, Sarah De Keulenaer, Barbara Ferrari, Stefano Ferrari, Frauke Coppieters, Frauke Coppieters, Frauke Coppieters, Frans P. M. Cremers, Frans P. M. Cremers, Frans P. M. Cremers, Erwin van Wyk, Susanne Roosing, Susanne Roosing, Susanne Roosing, Erik de Vrieze, Peter A. C. ‘t Hoen

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Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients מאת Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing

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