Anneke I den Hollander

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. pmc Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
    Anneke 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
  2. ncbi request reprint Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays
    Anneke 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
  3. ncbi request reprint Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa
    Anneke I den Hollander
    Department of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands
    Arch Ophthalmol 125:932-5. 2007
  4. ncbi request reprint Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
    Anneke 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
  5. ncbi request reprint CRB1 mutation spectrum in inherited retinal dystrophies
    Anneke I den Hollander
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Hum Mutat 24:355-69. 2004
  6. pmc Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies
    Anneke I den Hollander
    Division of Craniofacial and Molecular Genetics, Tufts University, 136 Harrison Ave, Boston MA 02111, USA
    BMC Genet 11:102. 2010
  7. pmc Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa
    Rob 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
  8. pmc Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
    Anna M Siemiatkowska
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Vis 18:2411-9. 2012
  9. doi request reprint Central areolar choroidal dystrophy
    Camiel J F Boon
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Ophthalmology 116:771-82, 782.e1. 2009
  10. pmc A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen
    Codrut C Paun
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Vis 18:2447-53. 2012

Detail Information

Publications54

  1. pmc Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
    Anneke 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...
  2. ncbi request reprint Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays
    Anneke 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...
  3. ncbi request reprint Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa
    Anneke 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...
  4. ncbi request reprint Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
    Anneke 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...
  5. ncbi request reprint CRB1 mutation spectrum in inherited retinal dystrophies
    Anneke 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...
  6. pmc Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies
    Anneke 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...
  7. pmc Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa
    Rob 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...
  8. pmc Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
    Anna 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)...
  9. doi request reprint Central areolar choroidal dystrophy
    Camiel 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)...
  10. pmc A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen
    Codrut 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...
  11. doi request reprint Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene
    Ramon A C van Huet
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 54:4683-90. 2013
    ..To provide the clinical features in patients with retinal disease caused by C8orf37 gene mutations...
  12. doi request reprint Clinical and genetic characteristics of late-onset Stargardt's disease
    Sarah 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)...
  13. pmc Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration
    Johannes 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)...
  14. ncbi request reprint Clinical and genetic heterogeneity in multifocal vitelliform dystrophy
    Camiel 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...
  15. doi request reprint Cumulative effect of risk alleles in CFH, ARMS2, and VEGFA on the response to ranibizumab treatment in age-related macular degeneration
    Dzenita 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...
  16. pmc Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy
    Susanne Roosing
    Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 93:110-7. 2013
    ..This study reveals a crucial role for RAB28 in photoreceptor function and suggests that mutations in other Rab proteins may also be associated with retinal dystrophies...
  17. pmc Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa
    Rob 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...
  18. doi request reprint Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction
    Susanne Roosing
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Ophthalmology 120:1239-46. 2013
    ..We used a high-resolution homozygosity mapping approach in a cohort of patients with CD or CRD to identify new genes for ar cone disorders...
  19. doi request reprint BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome
    Alejandro 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)...
  20. doi request reprint Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
    Alberta 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)...
  21. doi request reprint Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration
    Dzenita Smailhodzic
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Ophthalmology 119:339-46. 2012
    ....
  22. doi request reprint Genetic, behavioral, and sociodemographic risk factors for second eye progression in age-related macular degeneration
    Yara 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...
  23. doi request reprint High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population
    Rob 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...
  24. doi request reprint Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa
    Anna M Siemiatkowska
    Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
    Ophthalmology 120:2697-705. 2013
    ..Despite extensive knowledge about genes involved in the pathogenesis of RP, the genetic cause remains elusive in many patients. In this study, we aimed to identify novel genes that are involved in the cause of RP...
  25. ncbi request reprint Non-syndromic retinal ciliopathies: translating gene discovery into therapy
    Alejandro Estrada-Cuzcano
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 21:R111-24. 2012
    ....
  26. doi request reprint Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging
    Dzenita Smailhodzic
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 52:8908-18. 2011
    ....
  27. pmc Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping
    Anna 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...
  28. ncbi request reprint Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis
    José 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...
  29. doi request reprint Composition and function of the Crumbs protein complex in the mammalian retina
    Ilse 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
    ....
  30. doi request reprint The spectrum of phenotypes caused by variants in the CFH gene
    Camiel 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...
  31. pmc Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
    Anneke I den Hollander
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
    J Clin Invest 120:3042-53. 2010
    ....
  32. ncbi request reprint FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex
    Ilse 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...
  33. ncbi request reprint Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment
    Rob 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...
  34. doi request reprint The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
    Camiel 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...
  35. doi request reprint The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
    Camiel 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...
  36. doi request reprint Leber congenital amaurosis: genes, proteins and disease mechanisms
    Anneke 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
    ....
  37. doi request reprint A functional variant in the CFI gene confers a high risk of age-related macular degeneration
    Johannes P H van de Ven
    Department of Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Nat Genet 45:813-7. 2013
    ..Taken together, these findings demonstrate that rare, highly penetrant mutations contribute to the genetic burden of AMD...
  38. doi request reprint Short-term changes of Basal laminar drusen on spectral-domain optical coherence tomography
    Johannes 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...
  39. pmc Next-generation genetic testing for retinitis pigmentosa
    Kornelia 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...
  40. pmc Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
    Alejandro 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...
  41. pmc Basal laminar drusen caused by compound heterozygous variants in the CFH gene
    Camiel 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...
  42. pmc Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus
    Camiel 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)...
  43. ncbi request reprint Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
    Ersan 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...
  44. ncbi request reprint IMPG2-Associated Retinitis Pigmentosa Displays Relatively Early Macular Involvement
    Ramon A C van Huet
    Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 55:3939-53. 2014
    ..To provide the first detailed clinical description in patients with RP caused by recessive mutations in IMPG2...
  45. doi request reprint Identification and analysis of inherited retinal disease genes
    Kornelia 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...
  46. ncbi request reprint A homozygous frameshift mutation in LRAT causes retinitis punctata albescens
    Karin 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)...
  47. doi request reprint IQCB1 mutations in patients with leber congenital amaurosis
    Alejandro 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...
  48. pmc Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
    Anna M Siemiatkowska
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
    Mol Vis 20:753-9. 2014
    ..The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies...
  49. pmc Analysis of rare variants in the C3 gene in patients with age-related macular degeneration
    Maheswara R Duvvari
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS ONE 9:e94165. 2014
    ..The Lys65Gln variant was only identified in patients from Nijmegen, the Netherlands, and thus may represent a region-specific AMD risk variant...
  50. ncbi request reprint Prenylation defects in inherited retinal diseases
    Susanne Roosing
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
    J Med Genet 51:143-51. 2014
    ..In this review, we discuss the entire spectrum of prenylation defects underlying progressive degeneration of photoreceptors, the retinal pigment epithelium and the choroid. ..
  51. ncbi request reprint Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain
    Anneke 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...
  52. ncbi request reprint Characterization of XAGE-1b, a short major transcript of cancer/testis-associated gene XAGE-1, induced in melanoma metastasis
    Albert 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...
  53. ncbi request reprint Molecular genetics of Leber congenital amaurosis
    Frans 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...
  54. pmc Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290
    Rob 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...