Nathalie M Bax

Nathalie M Bax

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Nathalie M Bax

Nathalie M Bax

Publications by authors named "Nathalie M Bax"

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18Publications

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Highly Variable Disease Courses in Siblings with Stargardt Disease.

Ophthalmology 2019 12 16;126(12):1712-1721. Epub 2019 Jul 16.

Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2019.07.010DOI Listing
December 2019

Foveal Sparing in Central Retinal Dystrophies.

Invest Ophthalmol Vis Sci 2019 08;60(10):3456-3467

Department of Ophthalmology, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1167/iovs.18-26533DOI Listing
August 2019

The absence of fundus abnormalities in Stargardt disease.

Graefes Arch Clin Exp Ophthalmol 2019 Jun 22;257(6):1147-1157. Epub 2019 Mar 22.

Department of Ophthalmology (400), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://link.springer.com/10.1007/s00417-019-04280-8
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http://dx.doi.org/10.1007/s00417-019-04280-8DOI Listing
June 2019

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

Am J Hum Genet 2018 04 8;102(4):517-527. Epub 2018 Mar 8.

Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 EN Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985352PMC
April 2018

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.

Hum Mutat 2017 04 3;38(4):400-408. Epub 2017 Feb 3.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.23165DOI Listing
April 2017

Asymmetric Inter-Eye Progression in Stargardt Disease.

Invest Ophthalmol Vis Sci 2016 12;57(15):6824-6830

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.16-20963DOI Listing
December 2016

Progression of Late-Onset Stargardt Disease.

Invest Ophthalmol Vis Sci 2016 Oct;57(13):5186-5191

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.16-19833DOI Listing
October 2016

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

Ophthalmology 2016 06 12;123(6):1375-85. Epub 2016 Mar 12.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute of Molecular Life Sciences, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.01.053DOI Listing
June 2016

Early-onset stargardt disease: phenotypic and genotypic characteristics.

Ophthalmology 2015 Feb 17;122(2):335-44. Epub 2014 Oct 17.

Department of Ophthalmology, Radboud university medical center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2014.08.032DOI Listing
February 2015

Foveal sparing in Stargardt disease.

Invest Ophthalmol Vis Sci 2014 Oct 16;55(11):7467-78. Epub 2014 Oct 16.

Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://iovs.arvojournals.org/data/Journals/IOVS/933042/i1552
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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.13-13825DOI Listing
October 2014