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Journal Articles (3)
Meeting Abstract (1)

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Investigative Ophthalmology & Visual Science (4)

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

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

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genes (3)
mutation (3)
autosomal recessive inheritance (2)
homozygote (2)
child (1)
dutch (1)
genome (1)
leber's amaurosis (1)
proteins (1)
retinitis pigmentosa (1)

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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. doi:

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. doi: https://doi.org/10.1167/iovs.10-6185

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

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

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Retina December 2007

Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays

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Anneke I. den Hollander; Irma Lopez; Suzanne Yzer; Marijke N. Zonneveld; Irene M. Janssen; Tim M. Strom; Jayne Y. Hehir-Kwa; Joris A. Veltman; Maarten L. Arends; Thomas Meitinger; Maria A. Musarella; L. Ingeborgh van den Born; Gerald A. Fishman; Irene H. Maumenee; Klaus Rohrschneider; Frans P. M. Cremers; Robert K. Koenekoop
TAGS: child, genes, genome, homozygote, leber's amaurosis, mutation, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5690-5698. doi: https://doi.org/10.1167/iovs.07-0610

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Online ISSN: 1552-5783

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

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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