Search | IOVS | ARVO Journals

iovs

Issues
Topics
For Authors
About
- Editorial Board
- Subscriptions

Journals Home

SIGN IN

Forgot password?

Create an Account

To View More...

Purchase this article with an account.

or

Subscribe Now

Issues
Topics
For Authors
About
- Editorial Board
- Subscriptions

Narrow View

NARROW

Content Type

Meeting Abstract (7)
Journal Articles (2)

Journal

Investigative Ophthalmology & Visual Science (9)

Article Type

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

Topics

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

Tags

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)

Specify Date Range

From: To: Apply

Showing 1 – 9 of 9

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

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

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:

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:

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

« Previous

Advertisement

Follow @ARVOiovs

IOVS Home
Issues
Topics
For Authors
About
- Editorial Board
- Subscriptions

Online ISSN: 1552-5783

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

JOURNALS HOME
TOPICS
ABOUT ARVO JOURNALS

Copyright © 2015 Association for Research in Vision and Ophthalmology.

Forgot password?

To View More...

Purchase this article with an account.

Create an Account

or

Subscribe Now

×

×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×

This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy.Accept