Resultados da pesquisa - L. Ingeborgh van den Born

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  1. 1
    The Selective Serotonin Reuptake Inhibitor Sertraline: Its Profile and Use in Psychiatric Disorders

    The Selective Serotonin Reuptake Inhibitor Sertraline: Its Profile and Use in Psychiatric Disorders Por Glenda MacQueen, L. Ingeborgh van den Born, Meir Steiner

    Publicado em 2001
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  2. 2
    Intraocular cytokine profile and autoimmune reactions in retinitis pigmentosa, age‐related macular degeneration, glaucoma and cataract

    Intraocular cytokine profile and autoimmune reactions in retinitis pigmentosa, age‐related macular degeneration, glaucoma and cataract Por Josianne C. ten Berge, Zainab Fazil, L. Ingeborgh van den Born, Roger C. W. Wolfs, Marco W.J. Schreurs, Wim A. Dik, Aniki Rothová

    Publicado em 2018
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  3. 3
    Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa

    Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa Por 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

    Publicado em 2004
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  4. 4
    <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 Por 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

    Publicado em 2017
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  5. 5
    Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

    Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy Por 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

    Publicado em 2014
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  6. 6
    Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

    Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa Por 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

    Publicado em 2008
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  7. 7
    Novel Null Mutations in the<i>EYS</i>Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population

    Novel Null Mutations in the<i>EYS</i>Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population Por 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

    Publicado em 2010
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  8. 8
    Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

    Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis Por 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

    Publicado em 2006
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  9. 9
    CRB1 mutation spectrum in inherited retinal dystrophies

    CRB1 mutation spectrum in inherited retinal dystrophies Por 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

    Publicado em 2004
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  10. 10
    A Novel Nonsense Mutation in<i>CEP290</i>Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype

    A Novel Nonsense Mutation in<i>CEP290</i>Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype Por 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

    Publicado em 2010
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  11. 11
    Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

    Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy Por 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

    Publicado em 2013
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  12. 12
    Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?

    Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies? Por 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

    Publicado em 2017
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  13. 13
    Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

    Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa Por 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

    Publicado em 2011
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  14. 14
    Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

    Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases Por 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

    Publicado em 2021
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  15. 15
    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 Acyltransferase (LRAT)

    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... Por 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

    Publicado em 2015
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  16. 16
    Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

    Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations Por 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

    Publicado em 2010
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  17. 17
    Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

    Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene Por 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

    Publicado em 2001
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  18. 18
    Heterozygous Deep-Intronic Variants and Deletions in<i>ABCA4</i>in Persons with Retinal Dystrophies and One Exonic<i>ABCA4</i>Variant

    Heterozygous Deep-Intronic Variants and Deletions in<i>ABCA4</i>in Persons with Retinal Dystrophies and One Exonic<i>ABCA4</i>Variant Por 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

    Publicado em 2014
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  19. 19
    Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

    Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma Por 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

    Publicado em 2017
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  20. 20
    Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

    Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa Por 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

    Publicado em 2010
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