Frans P M Cremers

Frans P M Cremers

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Frans P M Cremers

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Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Hum Mutat 2019 Aug 9. Epub 2019 Aug 9.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.23890DOI Listing
August 2019

Foveal Sparing in Central Retinal Dystrophies.

Invest Ophthalmol Vis Sci 2019 Aug;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

Highly Variable Disease Courses in Siblings with Stargardt Disease.

Ophthalmology 2019 Jul 16. 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
July 2019

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.

Mol Vis 2019 8;25:106-117. Epub 2019 Feb 8.

Department of Ophthalmology, Isfahan Eye Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377375PMC
June 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

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.

Mol Genet Genomic Med 2019 Jun 4;7(6):e660. Epub 2019 Apr 4.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.660
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http://dx.doi.org/10.1002/mgg3.660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565574PMC
June 2019

Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.

Adv Exp Med Biol 2018 ;1074:83-89

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

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http://link.springer.com/10.1007/978-3-319-75402-4_11
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http://dx.doi.org/10.1007/978-3-319-75402-4_11DOI Listing
May 2019

Identification and Analysis of Genes Associated with Inherited Retinal Diseases.

Methods Mol Biol 2019 ;1834:3-27

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

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http://link.springer.com/10.1007/978-1-4939-8669-9_1
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http://dx.doi.org/10.1007/978-1-4939-8669-9_1DOI Listing
April 2019

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Parkinsonism Relat Disord 2019 Apr 15;61:245-247. Epub 2018 Oct 15.

Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.

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http://dx.doi.org/10.1016/j.parkreldis.2018.10.017DOI Listing
April 2019

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

PLoS One 2018 21;13(12):e0205380. Epub 2018 Dec 21.

Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0205380PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303042PMC
April 2019

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.

Eur J Hum Genet 2018 12 4;26(12):1819-1823. Epub 2018 Sep 4.

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

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http://dx.doi.org/10.1038/s41431-018-0243-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244075PMC
December 2018

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.

Invest Ophthalmol Vis Sci 2018 11;59(13):5566-5568

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

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http://dx.doi.org/10.1167/iovs.18-25944DOI Listing
November 2018

Homozygous variants in , encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

J Med Genet 2018 10 17;55(10):705-712. Epub 2018 Aug 17.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2018-105364DOI Listing
October 2018

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.

Mol Ther 2018 06 21;26(6):1581-1593. Epub 2018 Mar 21.

Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Penn Vision Research Center, University of Pennsylvania Perelman, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2018.03.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986734PMC
June 2018

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

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.

Genes (Basel) 2018 Apr 16;9(4). Epub 2018 Apr 16.

Sorbonne Université, INSERM, CNRS, Institut de la Vision, Department of Genetics, 17 rue Moreau, 75012 Paris, France.

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http://dx.doi.org/10.3390/genes9040215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924557PMC
April 2018

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Hum Mutat 2018 02 26;39(2):177-186. Epub 2017 Dec 26.

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

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http://dx.doi.org/10.1002/humu.23371DOI Listing
February 2018

midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Res 2018 01 21;28(1):100-110. Epub 2017 Nov 21.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1101/gr.226621.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749174PMC
January 2018

Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.

Ophthalmology 2017 06 21;124(6):884-895. Epub 2017 Mar 21.

Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands; Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2017.01.047DOI Listing
June 2017

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

Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.

Hum Mutat 2017 01 23;38(1):43-47. Epub 2016 Nov 23.

Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1163, Institut Imagine, Laboratoire de Génétique Ophtalmologique, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1002/humu.23124DOI Listing
January 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

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

Invest Ophthalmol Vis Sci 2016 Nov;57(14):6180-6187

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands 13Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.16-20148DOI Listing
November 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

Novel genetic causes for cerebral visual impairment.

Eur J Hum Genet 2016 May 9;24(5):660-5. Epub 2015 Sep 9.

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

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http://dx.doi.org/10.1038/ejhg.2015.186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930090PMC
May 2016

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

Invest Ophthalmol Vis Sci 2016 05;57(6):2637-46

Program of Genetics and Genome Biology The Hospital for Sick Children, Toronto, Canada 2Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Canada 3Department of Ophthalmology and Vision Science.

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http://dx.doi.org/10.1167/iovs.15-18281DOI Listing
May 2016

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

PLoS One 2015 16;10(3):e0119806. Epub 2015 Mar 16.

Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Molecular Life sciences, Radboud University Nijmegen, Nijmegen, the Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119806PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361598PMC
January 2016

Cerebral visual impairment and intellectual disability caused by PGAP1 variants.

Eur J Hum Genet 2015 Dec 25;23(12):1689-93. Epub 2015 Mar 25.

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

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http://dx.doi.org/10.1038/ejhg.2015.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795198PMC
December 2015

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

Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12.

Clin Dysmorphol 2015 Jan;24(1):34-7

aBartiméus Institute for the Visually Impaired, Zeist bDepartment of Human Genetics cDonders Institute for Brain, Cognition and Behavior dRadboud Institute for Molecular Life Science, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0000000000000062DOI Listing
January 2015

Chromosomal aberrations in cerebral visual impairment.

Eur J Paediatr Neurol 2014 Nov 22;18(6):677-84. Epub 2014 May 22.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.05.002DOI Listing
November 2014

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases.

Invest Ophthalmol Vis Sci 2014 Nov 17;55(11):7355-60. Epub 2014 Nov 17.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.14-15317DOI Listing
November 2014

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

Causes and consequences of inherited cone disorders.

Prog Retin Eye Res 2014 Sep 22;42:1-26. Epub 2014 May 22.

Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2014.05.001DOI Listing
September 2014

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Mol Vis 2014 2;20:753-9. Epub 2014 Jun 2.

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

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http://www.molvis.org/molvis/v20/753/mv-v20-753.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043607PMC
September 2014

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.

PLoS One 2013 6;8(11):e79369. Epub 2013 Nov 6.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands ; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079369PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819269PMC
August 2014

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

JAMA Ophthalmol 2014 Aug;132(8):1002-4

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.983DOI Listing
August 2014

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

Am J Hum Genet 2014 Aug 10;95(2):131-42. Epub 2014 Jul 10.

Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129401PMC
August 2014

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

J Med Genet 2014 Jul 15;51(7):444-8. Epub 2014 Apr 15.

Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2014-102316DOI Listing
July 2014

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

Cold Spring Harb Perspect Med 2014 Jun 17;4(8). Epub 2014 Jun 17.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1101/cshperspect.a017137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109577PMC
June 2014

Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes.

BMC Ophthalmol 2014 May 1;14:59. Epub 2014 May 1.

Department of Human Genetics, Radboud University Medical Center, P,O, Box 9101, Nijmegen, HB 6500, The Netherlands.

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http://dx.doi.org/10.1186/1471-2415-14-59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021540PMC
May 2014

Prenylation defects in inherited retinal diseases.

J Med Genet 2014 Mar 8;51(3):143-51. Epub 2014 Jan 8.

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

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http://dx.doi.org/10.1136/jmedgenet-2013-102138DOI Listing
March 2014

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

Lancet 2014 Mar 16;383(9923):1129-37. Epub 2014 Jan 16.

Molecular Medicine Section, National Heart and Lung Institute, Imperial College London, London, UK; Chronic Diseases Research Centre, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1016/S0140-6736(13)62117-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4171740PMC
March 2014

The molecular basis of retinal dystrophies in pakistan.

Genes (Basel) 2014 Mar 11;5(1):176-95. Epub 2014 Mar 11.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad 45600, Pakistan.

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http://dx.doi.org/10.3390/genes5010176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978518PMC
March 2014

NR2F1 mutations cause optic atrophy with intellectual disability.

Am J Hum Genet 2014 Feb 23;94(2):303-9. Epub 2014 Jan 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928641PMC
February 2014

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Ophthalmology 2014 Jan 18;121(1):399-407. Epub 2013 Oct 18.

Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.08.028DOI Listing
January 2014

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

Ophthalmology 2013 Dec 29;120(12):2697-2705. Epub 2013 Sep 29.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.07.052DOI Listing
December 2013

Identification and analysis of inherited retinal disease genes.

Methods Mol Biol 2013 ;935:3-23

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

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http://dx.doi.org/10.1007/978-1-62703-080-9_1DOI Listing
April 2013

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.

PLoS One 2012 21;7(8):e43251. Epub 2012 Aug 21.

Berman-Gund Laboratory for the Study of Retinal Degenerations, Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0043251PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3424119PMC
January 2013

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.

Mol Vis 2012 4;18:2447-53. Epub 2012 Oct 4.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3472923PMC
January 2013

Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

Hum Mol Genet 2012 Oct 26;21(R1):R111-24. Epub 2012 Jul 26.

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

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http://dx.doi.org/10.1093/hmg/dds298DOI Listing
October 2012