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Meeting Abstract (7)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (9)

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ARVO Annual Meeting Abstract (7)
Biochemistry and Molecular Biology (1)
Genetics (1)

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Genetics (2)
Biochemistry and Molecular Biology (1)
Eye Anatomy and Disorders (1)
Low Vision (1)
Retina (1)

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mutation (2)
proteins (2)
atrophy (1)
autosomal recessive inheritance (1)
bilateral visual field constriction (1)
blindness (1)
bone spicule in retina (1)
dutch (1)
eye (1)
family (1)

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ARVO Annual Meeting Abstract July 2019

Next generation sequencing using molecular inversion probes in hereditary retinal disorders genes in Polish patients: an update

Anna M. Tracewska-Siemiatkowska; Joanna Murawska; Beata Kocyla-Karczmarewicz; Marek Szalinski; Agnieszka Rafalska; Malgorzata Rydzanicz; Piotr Stawinski; Elzbieta Ciara; Muhammad Imran Khan; Arjen Henkes; Alexander Hoischen; Christian Gilisen; Maartje van der Vorst; Frans P Cremers; Rafal Ploski; Krystyna Chrzanowska

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2941. doi:

ARVO Annual Meeting Abstract July 2018

Novel mutations in Polish patients with hereditary retinal disorders

Anna Maria Tracewska-Siemiatkowska; Joanna Murawska; Beata Kocyla-Karczmarewicz; Marek Szalinski; Malgorzata Rydzanicz; Piotr Stawinski; Muhammad Imran Khan; Alexander Hoischen; Christian Gilissen; Maartje van de Vorst; Frans P Cremers; Rafal Ploski; Krystyna Chrzanowska

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2324. doi:

ARVO Annual Meeting Abstract June 2015

Digenic inheritance of heterozygous RP1L1 and C2orf71 variants in syndromic retinitis pigmentosa

Frans Cremers; Yangfan P. Liu; Danielle G.M. Bosch; Anna M. Siemiatkowska; Nanna D. Rendtorff; Christian Gilissen; F. Nienke Boonstra; Claes Moller; Lisbeth Tranebjærg; Nicholas Katsanis

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2857. doi:

Genetics June 2014

IMPG2 -Associated Retinitis Pigmentosa Displays Relatively Early Macular Involvement

PDF

Ramon A. C. van Huet; Rob W. J. Collin; Anna M. Siemiatkowska; Caroline C. W. Klaver; Carel B. Hoyng; Francesca Simonelli; Muhammad I. Khan; Raheel Qamar; Eyal Banin; Frans P. M. Cremers; Thomas Theelen; Anneke I. den Hollander; L. Ingeborgh van den Born; B. Jeroen Klevering
TAGS: atrophy, mutation, retinitis pigmentosa, eye, visual acuity, phenotype, retina, bone spicule in retina, proteins, vision
Invest. Ophthalmol. Vis. Sci.. 2014; 55(6):3939-3953. doi: https://doi.org/10.1167/iovs.14-14129

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Mutations in IFT172 cause isolated and syndromic retinal degeneration

Kinga Maria Bujakowska; Qi Zhang; Qin Liu; Anna M Siemiatkowska; Xiaowu Gai; L Ingeborgh van den Born; Rob W J Collin; Christina Zeitz; Isabelle Audo; Eric Pierce

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1278. doi:

ARVO Annual Meeting Abstract March 2012

A Novel CRB1 Mutation In A Family With Retinitis Pigmentosa, Nanophthalmos And Optic Disc Drusen

Codrut C. Paun; Benjamin Pijl; Anna M. Siemiatkowska; Rob W. Collin; Frans P. Cremers; Carel B. Hoyng; Anneke I. den Hollander

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4541. doi:

ARVO Annual Meeting Abstract April 2011

Mutations In IMPG2 Are Causative For Autosomal Recessive Retinitis Pigmentosa Combined With Bull’s Eye Maculopathy

Ramon v. Huet; L. I. van den Born; Kornelia Neveling; Anna M. Siemiatkowska; Anneke I. den Hollander; Frans P. Cremers; Rob W. Collin; B. J. Klevering

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):4984. doi:

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

PDF

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

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Online ISSN: 1552-5783

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

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