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Journal Articles (3)
Meeting Abstract (2)

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Investigative Ophthalmology & Visual Science (5)

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ARVO Annual Meeting Abstract (2)
Biochemistry and Molecular Biology (2)
Retina (1)

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Genetics (3)
Biochemistry and Molecular Biology (2)
Retina (1)

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exons (2)
genes (2)
mutation (2)
proteins (2)
autosomal recessive inheritance (1)
body tissue (1)
dutch (1)
genome (1)
homozygote (1)
mertk gene (1)

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Biochemistry and Molecular Biology July 2011

High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse

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Alejandro Garanto; Marina Riera; Esther Pomares; Jon Permanyer; Marta de Castro-Miró; Florentina Sava; Josep F. Abril; Gemma Marfany; Roser Gonzàlez-Duarte
TAGS: exons, genes, mice, protein isoforms, retina, retinitis pigmentosa, transcription, genetic, body tissue, genome, proteins
Invest. Ophthalmol. Vis. Sci.. 2011; 52(8):5202-5214. https://doi.org/10.1167/iovs.10-7101

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2011

Molecular Genetic Analysis of Non-syndromic Retinitis Pigmentosa in Indonesia

Anna M. Siemiatkowska; Kentar Arimadyo; Luminita M. Moruz; Marta de Castro-Miro; Tim M. Strom; Sultana M. Faradz; Frans P. Cremers; Anneke I. den Hollander; Rob W. Collin

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):66.

ARVO Annual Meeting Abstract April 2011

High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse

Gemma Marfany; Alejandro Garanto; Marina Riera; Esther Pomares; Jon Permanyer; Marta de Castro-Miró; Josep F. Abril; Roser Gonzalez-Duarte

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5404.

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: autosomal recessive inheritance, dutch, homozygote, mutation, genes, proteins
Invest. Ophthalmol. Vis. Sci.. 2011; 52(5):2227-2239. https://doi.org/10.1167/iovs.10-6185

Retina July 2010

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

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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: exons, mutation, mutation, nonsense, phenotype, visual acuity, mertk gene
Invest. Ophthalmol. Vis. Sci.. 2010; 51(7):3646-3652. https://doi.org/10.1167/iovs.09-5074

Includes: Supplemental Content

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Online ISSN: 1552-5783

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

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