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Journal Articles (6)
Meeting Abstract (1)

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Investigative Ophthalmology & Visual Science (7)

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Retina (3)
Biochemistry and Molecular Biology (2)
ARVO Annual Meeting Abstract (1)
Letters to the Editor (1)

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Genetics (6)
Retina (4)
Biochemistry and Molecular Biology (2)
Eye Anatomy and Disorders (2)

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mutation (5)
homozygote (3)
retinitis pigmentosa (3)
autosomal recessive inheritance (2)
genes (2)
mutation, nonsense (2)
phenotype (2)
dutch (1)
electroretinography (1)
exons (1)

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ARVO Annual Meeting Abstract March 2012

A Homozygous Frameshift Mutation In LRAT Causes Retinitis Punctata Albescens

Karin W. Littink; Maria M. van Genderen; Mary van Schooneveld; Frans Riemslag; Jan Keunen; Linda Visser; Anneke den Hollander; Frans P. Cremers; Ingeborgh van den Born

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4533. doi: https://doi.org/

Biochemistry and Molecular Biology April 2011

High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population

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Rob W. J. Collin; L. Ingeborgh van den Born; B. Jeroen Klevering; Marta de Castro-Miró; Karin W. Littink; Kentar Arimadyo; Maleeha Azam; Volkan Yazar; Marijke N. Zonneveld; Codrut C. Paun; Anna M. Siemiatkowska; Tim M. Strom; Jayne Y. Hehir-Kwa; Hester Y. Kroes; Jan-Tjeerd H. N. de Faber; Mary J. van Schooneveld; John R. Heckenlively; Carel B. Hoyng; Anneke I. den Hollander; Frans P. M. Cremers
TAGS: mutation, genes, homozygote, proteins, autosomal recessive inheritance, dutch
Invest. Ophthalmol. Vis. Sci.. 2011; 52(5):2227-2239. doi: https://doi.org/10.1167/iovs.10-6185

Letters to the Editor December 2010

Author Response: Genetic Testing and Clinical Characterization of Patients with Cone–Rod Dystrophy

PDF

Karin W. Littink; Robert K. Koenekoop; L. Ingeborgh van den Born; Frans P. M. Cremers; Anneke I. den Hollander
TAGS: retinitis pigmentosa, genetic screening
Invest. Ophthalmol. Vis. Sci.. 2010; 51(12):6905. doi: https://doi.org/10.1167/iovs.10-6565

Retina November 2010

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

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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; Irma Lopez; Hester Y. Kroes; Maria M. van Genderen; Carel B. Hoyng; Klaus Rohrschneider; Mary J. van Schooneveld; Frans P. M. Cremers; Anneke I. den Hollander
TAGS: mutation, homozygote, retinitis pigmentosa, progressive cone-rod dystrophy
Invest. Ophthalmol. Vis. Sci.. 2010; 51(11):5943-5951. doi: https://doi.org/10.1167/iovs.10-5797

Includes: Supplemental Content

Biochemistry and Molecular Biology September 2010

Novel Null Mutations in the EYS Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population

PDF

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
TAGS: mutation, genes, retinitis pigmentosa, autosomal recessive inheritance
Invest. Ophthalmol. Vis. Sci.. 2010; 51(9):4387-4394. doi: https://doi.org/10.1167/iovs.09-4732

Includes: Supplemental Content

Retina July 2010

A Novel Nonsense Mutation in CEP290 Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype

PDF

Karin W. Littink; Jan-Willem R. Pott; Rob W. J. Collin; Hester Y. Kroes; Joke B. G. M. 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
TAGS: phenotype, mutation, exons, visual acuity, mutation, nonsense, mertk gene
Invest. Ophthalmol. Vis. Sci.. 2010; 51(7):3646-3652. doi: https://doi.org/10.1167/iovs.09-5074

Includes: Supplemental Content

Retina May 2009

A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone–Rod Synaptic Disorder

PDF

Karin W. Littink; Maria M. van Genderen; Rob W. J. Collin; Susanne Roosing; Arjan P. M. de Brouwer; Frans C. C. Riemslag; Hanka Venselaar; Alberta A. H. J. Thiadens; Carel B. Hoyng; Klaus Rohrschneider; Anneke I. den Hollander; Frans P. M. Cremers; L. Ingeborgh van den Born
TAGS: phenotype, mutation, retinal cone, electroretinography, homozygote, rod photoreceptors, mutation, nonsense
Invest. Ophthalmol. Vis. Sci.. 2009; 50(5):2344-2350. doi: https://doi.org/10.1167/iovs.08-2553

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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