Research Topics
Genomes and Genes
| Anneke I den HollanderSummaryAffiliation: Radboud University Nijmegen Medical Centre Country: The Netherlands Publications
| Collaborators
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Detail Information
Publications
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosaAnneke I den Hollander
Department of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands
Arch Ophthalmol 125:932-5. 2007..To describe the clinical characteristics and determine the genetic defect in a Surinamese family with autosomal recessive retinitis pigmentosa...- CRB1 mutation spectrum in inherited retinal dystrophiesAnneke I den Hollander
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
Hum Mutat 24:355-69. 2004..In this article, we provide an overview of the currently known CRB1 sequence variants, predict their effect, and propose a genotype-phenotype correlation model for CRB1 mutations... - Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarraysAnneke I den Hollander
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Invest Ophthalmol Vis Sci 48:5690-8. 2007..Thus far, mutations in 13 genes have been associated with autosomal recessive LCA and juvenile RP. The purpose of this study was to use homozygosity mapping to identify mutations in known LCA and juvenile RP genes... - Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisAnneke I den Hollander
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Nat Genet 39:889-95. 2007..Members of this interactome represent candidate genes for LCA and other ciliopathies. Our findings emphasize the emerging role of disrupted ciliary processes in the molecular pathogenesis of LCA... 
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisAnneke I den Hollander
Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
Am J Hum Genet 79:556-61. 2006..CEP290 mutations therefore represent one of the most frequent causes of LCA identified so far...- Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomaliesAnneke I den Hollander
Division of Craniofacial and Molecular Genetics, Tufts University, 136 Harrison Ave, Boston MA 02111, USA
BMC Genet 11:102. 2010..The goal of this study is to characterize the outm233 mutant, and to determine whether mutations in the out gene cause microphthalmia in humans... - Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaRob W J Collin
Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
Am J Hum Genet 83:594-603. 2008..With a size of 2 Mb, it is one of the largest human genes, and it is by far the largest retinal dystrophy gene. The discovery of EYS might shed light on a critical component of photoreceptor morphogenesis... - Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian familyAnna M Siemiatkowska
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Mol Vis 18:2411-9. 2012..The purpose of this study was to identify the underlying molecular genetic defect in an Indonesian family with three affected individuals who had received a diagnosis of retinitis pigmentosa (RP)... 
Central areolar choroidal dystrophyCamiel J F Boon
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Ophthalmology 116:771-82, 782.e1. 2009..To describe the clinical characteristics, follow-up data and molecular genetic background in a large group of patients with central areolar choroidal dystrophy (CACD)...- Clinical and genetic characteristics of late-onset Stargardt's diseaseSarah C Westeneng-van Haaften
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Ophthalmology 119:1199-210. 2012..To describe the genotype and phenotype of patients with a late-onset Stargardt's disease (STGD1)... - Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degenerationJohannes P H van de Ven
Department of Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
Mol Vis 18:2271-8. 2012..To assess the association of gender, cigarette smoking, body-mass index, and nine genetic risk variants with cuticular drusen (CD), a well recognized subtype of age-related macular degeneration (AMD)... - Clinical and genetic heterogeneity in multifocal vitelliform dystrophyCamiel J F Boon
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Arch Ophthalmol 125:1100-6. 2007..To describe the clinical and genetic findings in 15 patients with multifocal vitelliform lesions... - A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusenCodrut C Paun
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Mol Vis 18:2447-53. 2012..The purpose of this study is to identify the genetic defect in a Turkish family with autosomal recessive retinitis pigmentosa, nanophthalmos, and optic disc drusen... - Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosaRob W J Collin
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Am J Hum Genet 86:783-8. 2010..In conclusion, truncating mutations in C2ORF71 were identified in three unrelated families, thereby confirming the involvement of this gene in the etiology of arRP... - Cumulative effect of risk alleles in CFH, ARMS2, and VEGFA on the response to ranibizumab treatment in age-related macular degenerationDzenita Smailhodzic
Department of Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
Ophthalmology 119:2304-11. 2012..In contrast to previous studies, the data were stratified according to the number of high-risk alleles to enable the study of the combined effects of these genotypes on the treatment response... - BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano
Departments of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
Arch Ophthalmol 130:1425-32. 2012..To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP)... - Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophyAlberta A H J Thiadens
Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands
Ophthalmology 119:819-26. 2012..To evaluate the clinical course, genetic etiology, and visual prognosis in patients with cone dystrophy (CD) and cone-rod dystrophy (CRD)... - Genetic, behavioral, and sociodemographic risk factors for second eye progression in age-related macular degenerationYara T E Lechanteur
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Invest Ophthalmol Vis Sci 53:5846-52. 2012..This study was conducted to investigate the correlation of genetic, sociodemographic, and behavioral risk factors with second eye progression to end-stage AMD... - Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degenerationDzenita Smailhodzic
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Ophthalmology 119:339-46. 2012.... - High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch populationRob W J Collin
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, Nijmegen, The Netherlands
Invest Ophthalmol Vis Sci 52:2227-39. 2011..The hypothesis was that, because there has been little migration over the past centuries in certain areas of The Netherlands, a significant fraction of Dutch arRP patients carry their genetic defect in the homozygous state... - Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imagingDzenita Smailhodzic
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Invest Ophthalmol Vis Sci 52:8908-18. 2011.... - Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mappingAnna M Siemiatkowska
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Mol Vis 17:3013-24. 2011..Here, we aim to identify the molecular genetic causes underlying RP in a small cohort of Indonesian patients, using genome-wide homozygosity mapping... - Composition and function of the Crumbs protein complex in the mammalian retinaIlse Gosens
Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
Exp Eye Res 86:713-26. 2008.... - Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosisJosé A J M van den Hurk
Department of Human Genetics, Radboud Univerisity Nijmegen Medical Center, Nijmegen, The Netherlands
Mol Vis 11:263-73. 2005..3 and 19p13.3. The purpose of this study was to characterize the Crumbs homolog 2 (CRB2) gene on 9q33.3, to analyze its expression pattern, and to determine whether mutations in CRB2 are associated with RP and LCA... - Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophiesAnneke I den Hollander
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
J Clin Invest 120:3042-53. 2010.... - The spectrum of phenotypes caused by variants in the CFH geneCamiel J F Boon
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Mol Immunol 46:1573-94. 2009..The phenotypic outcome of these CFH variants depends on their differential impact on plasma- and surface-bound CFH function. Consequently, distinct genotype-phenotype correlations may be observed... - Non-syndromic retinal ciliopathies: translating gene discovery into therapyAlejandro Estrada-Cuzcano
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mol Genet 21:R111-24. 2012.... - Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mutat 28:718-23. 2007..Together, our data indicate that also nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population... - The spectrum of ocular phenotypes caused by mutations in the BEST1 geneCamiel J F Boon
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Prog Retin Eye Res 28:187-205. 2009..The genotype-phenotype correlations that are observed in association with BEST1 mutations are discussed. In addition, in vitro studies and animal models that clarify the pathophysiological mechanisms are reviewed... - The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS geneCamiel J F Boon
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Prog Retin Eye Res 27:213-35. 2008..Finally, we review the proposed genotype-phenotype correlation and the pathophysiologic mechanisms underlying this group of retinal dystrophies... - FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complexIlse Gosens
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
Exp Cell Res 313:3959-70. 2007..Our results emphasize the importance of a conserved Crumbs-MPP5-EPB41L5 polarity complex in mammals... - Next-generation genetic testing for retinitis pigmentosaKornelia Neveling
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mutat 33:963-72. 2012..De novo dominant mutations appear to play a significant role in patients with isolated RP, having major implications for genetic counselling... - Short-term changes of Basal laminar drusen on spectral-domain optical coherence tomographyJohannes P H van de Ven
Department of Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
Am J Ophthalmol 154:560-7. 2012..To determine if small hard drusen in patients with basal laminar drusen show short-term changes... - Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano
Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
Am J Hum Genet 90:102-9. 2012..The two CRD siblings with the c.156-2A>G mutation also showed unilateral postaxial polydactyly. These results underline the importance of disrupted ciliary processes in the pathogenesis of retinal dystrophies... - Basal laminar drusen caused by compound heterozygous variants in the CFH geneCamiel J F Boon
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
Am J Hum Genet 82:516-23. 2008..Our findings strongly suggest that monogenic inheritance of CFH variants can result in basal laminar drusen in young adults, and this can progress to maculopathy and severe vision loss later in life... - Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatusCamiel J F Boon
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Br J Ophthalmol 91:1504-11. 2007..To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease (STGD1)... - Leber congenital amaurosis: genes, proteins and disease mechanismsAnneke I den Hollander
Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Prog Retin Eye Res 27:391-419. 2008.... - Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing lossErsan Kalay
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mutat 27:633-9. 2006..Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation. Our findings indicate that LHFPL5 is essential for normal function of the human cochlea... - A homozygous frameshift mutation in LRAT causes retinitis punctata albescensKarin W Littink
The Rotterdam Eye Hospital, Rotterdam, The Netherlands
Ophthalmology 119:1899-906. 2012..To determine the genetic defect and to describe the clinical characteristics in patients with retinitis punctata albescens (RPA) and fundus albipunctatus (FAP)... - IQCB1 mutations in patients with leber congenital amaurosisAlejandro Estrada-Cuzcano
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Invest Ophthalmol Vis Sci 52:834-9. 2011..Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for ∼70% of LCA patients. The aim of the present study was to identify new genetic causes of LCA... - Identification and analysis of inherited retinal disease genesKornelia Neveling
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Methods Mol Biol 935:3-23. 2013..Here, we outline the state-of-the-art techniques to find the causative DNA variants, with special attention for next-generation sequencing which can combine molecular diagnostics and retinal disease gene identification... - Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brainAnneke I den Hollander
Department of Human Genetics, University Medical Centre Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Mech Dev 110:203-7. 2002..2. In the adult brain, Crb1 expression is defined to areas where the production and migration of neurons occurs in adulthood... - Molecular genetics of Leber congenital amaurosisFrans P M Cremers
Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Hum Mol Genet 11:1169-76. 2002..Based on experimental evidence in mice and dogs, patients with disturbed retinal metabolism of vitamin A through a mutation in the RPE65 gene will likely be the first candidates for future therapeutic trials... - Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290Rob Wj Collin
1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 2 Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 3 Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 4 Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Mol Ther Nucleic Acids 1:e14. 2012..Together, our data show that AON-based therapy is a promising therapeutic approach for CEP290-associated LCA that warrants future research in animal models to develop a cure for this blinding disease... - Characterization of XAGE-1b, a short major transcript of cancer/testis-associated gene XAGE-1, induced in melanoma metastasisAlbert J W Zendman
Department of Pathology, University Medical Center St Radboud, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Int J Cancer 97:195-204. 2002..Our data imply the nuclear cancer/testis-associated XAGE-1b to be a marker for late melanocytic tumor progression...