Ohcanbohtosat - L. Ingeborgh van den Born
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Intraocular cytokine profile and autoimmune reactions in retinitis pigmentosa, age‐related macular degeneration, glaucoma and cataract Dahkki Josianne C. ten Berge, Zainab Fazil, L. Ingeborgh van den Born, Roger C. W. Wolfs, Marco W.J. Schreurs, Wim A. Dik, Aniki Rothová
Almmustuhtton 2018Artigo -
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Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa Dahkki B. Jeroen Klevering, Suzanne Yzer, Klaus Rohrschneider, Marijke N. Zonneveld, Rando Allikmets, L. Ingeborgh van den Born, Alessandra Maugeri, Carel B. Hoyng, Frans P.M. Cremers
Almmustuhtton 2004Artigo -
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<i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease Dahkki 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
Almmustuhtton 2017Artigo -
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Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy Dahkki Susanne Roosing, L. Ingeborgh van den Born, Riccardo Sangermano, Sandro Banfi, Robert K. Koenekoop, Marijke N. Zonneveld-Vrieling, Caroline C. W. Klaver, Janneke J.C. van Lith-Verhoeven, Frans P.M. Cremers, Anneke I. den Hollander, Carel B. Hoyng
Almmustuhtton 2014Artigo -
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Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa Dahkki Rob W.J. Collin, Karin W. Littink, B. Jeroen Klevering, L. Ingeborgh van den Born, Robert K. Koenekoop, Marijke N. Zonneveld, Ellen A.W. Blokland, Tim M. Strom, Carel B. Hoyng, Anneke I. den Hollander, Frans P.M. Cremers
Almmustuhtton 2008Artigo -
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Novel Null Mutations in the<i>EYS</i>Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population Dahkki Dikla Bandah‐Rozenfeld, Karin W. Littink, Tamar Ben‐Yosef, Tim M. Strom, Itay Chowers, Rob W.J. Collin, Anneke I. den Hollander, L. Ingeborgh van den Born, Marijke N. Zonneveld, Saul Merin, Eyal Banin, Frans P.M. Cremers, Dror Sharon
Almmustuhtton 2010Artigo -
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Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis Dahkki Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer, Irma López, Maarten Arends, Krysta Voesenek, Marijke N. Zonneveld, Tim M. Strom, Thomas Meitinger, Han G. Brunner, Carel B. Hoyng, L. Ingeborgh van den Born, Klaus Rohrschneider, Frans P.M. Cremers
Almmustuhtton 2006Artigo -
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CRB1 mutation spectrum in inherited retinal dystrophies Dahkki Anneke I. den Hollander, Jason A. Davis, Saskia D. van der Velde-Visser, Marijke N. Zonneveld, Chiara O. Pierrottet, Robert K. Koenekoop, Ulrich Kellner, L. Ingeborgh van den Born, John R. Heckenlively, Carel B. Hoyng, Penny A. Handford, Ronald Roepman, Frans P.M. Cremers
Almmustuhtton 2004Revisão -
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A Novel Nonsense Mutation in<i>CEP290</i>Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype Dahkki Karin W. Littink, Jan-Willem R. Pott, Rob W.J. Collin, Hester Y. Kroes, Joanne Verheij, Ellen A.W. Blokland, Marta de Castro‐Miró, Carel B. Hoyng, Caroline C. W. Klaver, Robert K. Koenekoop, Klaus Rohrschneider, Frans P.M. Cremers, L. Ingeborgh van den Born, Anneke I. den Hollander
Almmustuhtton 2010Artigo -
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Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy Dahkki Susanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, Dror Sharon, Nicole Weisschuh, Jennifer Staller, Susanne Kohl, Lina Zelinger, Theo Peters, Kornelia Neveling, Tim M. Strom, L. Ingeborgh van den Born, Carel B. Hoyng, Caroline C. W. Klaver, Ronald Roepman, Bernd Wissinger, Eyal Banin, Frans P.M. Cremers, Anneke I. den Hollander
Almmustuhtton 2013Artigo -
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Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies? Dahkki Michelle Hendriks, Virginie J. M. Verhoeven, Gabriëlle H.S. Buitendijk, Jan Roelof Polling, Magda A. Meester‐Smoor, Albert Hofman, Maarten Kamermans, L. Ingeborgh van den Born, Caroline C. W. Klaver, Ramon A. van Huet, B. Jeroen Klevering, Nathalie M. Bax, Stanley Lambertus, Caroline C. W. Klaver, Carel B. Hoyng, Clasien J. Oomen, Wendy A. van Zelst-Stams, Frans P.M. Cremers, Astrid S. Plomp, Mary J. van Schooneveld, Mies M. van Genderen, J. Schuil, F. Nienke Boonstra, Reinier O. Schlingemann, Arthur A. Bergen, Laurence Pierrache, Magda A. Meester‐Smoor, L. Ingeborgh van den Born, Camiel J. F. Boon, Jan Willem R. Pott, Redmer van Leeuwen, Hester Y. Kroes, Yvonne de Jong‐Hesse
Almmustuhtton 2017Artigo -
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Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa Dahkki Rıza Köksal Özgül, Anna M. Siemiatkowska, Didem Yücel, Connie A. Myers, Rob W.J. Collin, Marijke N. Zonneveld, Avigail Beryozkin, Eyal Banin, Carel B. Hoyng, L. Ingeborgh van den Born, Ron Bose, Wei Shen, Dror Sharon, Frans P.M. Cremers, B. Jeroen Klevering, Anneke I. den Hollander, Joseph C. Corbo
Almmustuhtton 2011Artigo -
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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases Dahkki Zeinab Fadaie, Laura Whelan, Tamar Ben‐Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer‐Wigman, Jordi Corominas, Galuh Astuti, Laura de Rooij, L. Ingeborgh van den Born, Caroline C. W. Klaver, Carel B. Hoyng, Niamh Wynne, Emma Duignan, Paul F. Kenna, Frans P.M. Cremers, G. Jane Farrar, Susanne Roosing
Almmustuhtton 2021Artigo -
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Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acylt... Dahkki Hendrik P. N. Scholl, Anthony T. Moore, Robert K. Koenekoop, Yuquan Wen, Gerald A. Fishman, L. Ingeborgh van den Born, Ava K. Bittner, Kristen Bowles, Emily Fletcher, Frederick T. Collison, Gislin Dagnelie, Simona Degli Eposti, Michel Michaelides, David A. Saperstein, Ronald Schuchard, Claire S. Barnes, Wadih M. Zein, Ditta Zobor, David G. Birch, Janine D. Mendola, Eberhart Zrenner
Almmustuhtton 2015Artigo -
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Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations Dahkki Karin W. Littink, Robert K. Koenekoop, L. Ingeborgh van den Born, Rob W.J. Collin, Luminita Moruz, Joris A. Veltman, Susanne Roosing, Marijke N. Zonneveld, Amer Omar, Mahshad Darvish-Zargar, Irma López, Hester Y. Kroes, Maria M. van Genderen, Carel B. Hoyng, Klaus Rohrschneider, Mary J. van Schooneveld, Frans P.M. Cremers, Anneke I. den Hollander
Almmustuhtton 2010Artigo -
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Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene Dahkki Anneke I. den Hollander, John R. Heckenlively, L. Ingeborgh van den Born, Yvette J.M. de Kok, Saskia D. van der Velde-Visser, Ulrich Kellner, Bernhard Jurklies, Mary J. van Schooneveld, A. Blankenagel, Klaus Rohrschneider, Bernd Wissinger, J.R.M. Cruysberg, August F. Deutman, Han G. Brunner, Eckart Apfelstedt-Sylla, Carel B. Hoyng, Frans P.M. Cremers
Almmustuhtton 2001Artigo -
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Heterozygous Deep-Intronic Variants and Deletions in<i>ABCA4</i>in Persons with Retinal Dystrophies and One Exonic<i>ABCA4</i>Variant Dahkki Nathalie M. Bax, Riccardo Sangermano, Susanne Roosing, Alberta A. H. J. Thiadens, Lies H. Hoefsloot, L. Ingeborgh van den Born, Milan Phan, B. Jeroen Klevering, Carla Westeneng-van Haaften, Terry A. Braun, Marijke N. Zonneveld-Vrieling, Ilse de Wijs, Merve Mutlu, Edwin M. Stone, Anneke I. den Hollander, Caroline C. W. Klaver, Carel B. Hoyng, Frans P.M. Cremers
Almmustuhtton 2014Artigo -
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Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma Dahkki Laurence Pierrache, Adva Kimchi, Rinki Ratnapriya, Lisa Roberts, Galuh Astuti, Alexey Obolensky, Avigail Beryozkin, Martha J. H. Tjon-Fo-Sang, J. Schuil, Caroline C. W. Klaver, Ernie M.H.F. Bongers, Lonneke Haer‐Wigman, Nicoline Schalij, Martijn H. Breuning, Gratia M. Fischer, Eyal Banin, Raj Ramesar, Anand Swaroop, L. Ingeborgh van den Born, Dror Sharon, Frans P.M. Cremers
Almmustuhtton 2017Artigo -
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Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa Dahkki Dikla Bandah‐Rozenfeld, Rob W.J. Collin, Eyal Banin, L. Ingeborgh van den Born, Karlien L. M. Coene, Anna M. Siemiatkowska, Lina Zelinger, Muhammad Imran Khan, Dirk J. Lefeber, Inbar Erdinest, Francesco Testa, Francesca Simonelli, Krysta Voesenek, Ellen A.W. Blokland, Tim M. Strom, Caroline C. W. Klaver, Raheel Qamar, Sandro Banfi, Frans P.M. Cremers, Dror Sharon, Anneke I. den Hollander
Almmustuhtton 2010Artigo
Ohcanreaiddut:
Laktáseaddji fáttát
Biology
Gene
Genetics
Mutation
Medicine
Retinitis pigmentosa
Phenotype
Retinal
Ophthalmology
ABCA4
Computational biology
Exon
Exome sequencing
Internal medicine
Missense mutation
Proband
Retinal degeneration
Visual acuity
Disease gene identification
Electroretinography
Biochemistry
Dystrophy
Genome
Nonsense mutation
Retinal pigment epithelium
Stargardt disease
Allele
Compound heterozygosity
Genotype
Neuroscience