Ben A Oostra

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. pmc Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene
    Francesca Punzo
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Orphanet J Rare Dis 6:89. 2011
  2. pmc A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    BMC Med Genet 11:41. 2010
  3. ncbi request reprint The X chromosome and fragile X mental retardation
    B A Oostra
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Cytogenet Genome Res 99:257-64. 2002
  4. ncbi request reprint A fragile balance: FMR1 expression levels
    Ben A Oostra
    Department of Clinical Genetics, Erasmus MC, The Netherlands
    Hum Mol Genet 12:R249-57. 2003
  5. pmc FMR1: a gene with three faces
    Ben A Oostra
    Department of Clinical Genetics, Erasmus MC, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    Biochim Biophys Acta 1790:467-77. 2009
  6. doi request reprint Risk scores of common genetic variants for lipid levels influence atherosclerosis and incident coronary heart disease
    Aaron Isaacs
    Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
    Arterioscler Thromb Vasc Biol 33:2233-9. 2013
  7. pmc Lack of association of two common polymorphisms on 9p21 with risk of coronary heart disease and myocardial infarction; results from a prospective cohort study
    Abbas Dehghan
    Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
    BMC Med 6:30. 2008
  8. ncbi request reprint The cholesteryl ester transfer protein I405V polymorphism is associated with increased high-density lipoprotein levels and decreased risk of myocardial infarction: the Rotterdam Study
    Aaron Isaacs
    Genetic Epidemiology Unit, Erasmus Medical Center, Rotterdam, The Netherlands
    Eur J Cardiovasc Prev Rehabil 14:419-21. 2007
  9. doi request reprint Cyclin-dependent kinase 5 is associated with risk for Alzheimer's disease in a Dutch population-based study
    Alejandro Arias-Vasquez
    Genetic Epidemiology Unit, Dept of Epidemiology and Biostatistics, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    J Neurol 255:655-62. 2008
  10. ncbi request reprint Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene
    Sandra van 't Padje
    Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Dev Genes Evol 215:198-206. 2005

Detail Information

Publications174 found, 100 shown here

  1. pmc Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene
    Francesca Punzo
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Orphanet J Rare Dis 6:89. 2011
    ..The aim of this study was to characterize molecular genomic SEC23B defects in 16 unrelated patients affected by CDAII and correlate the identified genetic alterations with SEC23B transcript and protein levels in erythroid precursors...
  2. pmc A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    BMC Med Genet 11:41. 2010
    ..A substantial proportion of the inter-individual variability in S CR level is explicable by genetic factors...
  3. ncbi request reprint The X chromosome and fragile X mental retardation
    B A Oostra
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Cytogenet Genome Res 99:257-64. 2002
    ..This means that a normal phenotype in female carriers of a full mutation is accompanied by a distortion of the normal distribution of X inactivation...
  4. ncbi request reprint A fragile balance: FMR1 expression levels
    Ben A Oostra
    Department of Clinical Genetics, Erasmus MC, The Netherlands
    Hum Mol Genet 12:R249-57. 2003
    ..The level of FMR1 mRNA is in fragile balance and is therefore critical for normal functioning...
  5. pmc FMR1: a gene with three faces
    Ben A Oostra
    Department of Clinical Genetics, Erasmus MC, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    Biochim Biophys Acta 1790:467-77. 2009
    ..The presence of elevated FMR1 mRNA in FXTAS suggests that FXTAS may represent a toxic RNA gain-of-function effect. The molecular basis of POI is yet unknown. The role of the FMR1 gene in these disorders is discussed...
  6. doi request reprint Risk scores of common genetic variants for lipid levels influence atherosclerosis and incident coronary heart disease
    Aaron Isaacs
    Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
    Arterioscler Thromb Vasc Biol 33:2233-9. 2013
    ..We tested the hypothesis that the cumulative effects of common genetic variants for lipids are collectively associated with subclinical atherosclerosis and incident coronary heart disease...
  7. pmc Lack of association of two common polymorphisms on 9p21 with risk of coronary heart disease and myocardial infarction; results from a prospective cohort study
    Abbas Dehghan
    Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
    BMC Med 6:30. 2008
    ..We examined the SNPs in relation to the risk of CHD and MI in a large population based study of elderly population...
  8. ncbi request reprint The cholesteryl ester transfer protein I405V polymorphism is associated with increased high-density lipoprotein levels and decreased risk of myocardial infarction: the Rotterdam Study
    Aaron Isaacs
    Genetic Epidemiology Unit, Erasmus Medical Center, Rotterdam, The Netherlands
    Eur J Cardiovasc Prev Rehabil 14:419-21. 2007
    ..The effect of the cholesteryl ester transfer protein (CETP) I405V polymorphism on lipid levels, atherosclerosis and myocardial infarction (MI) was examined in 6421 participants from the Rotterdam Study...
  9. doi request reprint Cyclin-dependent kinase 5 is associated with risk for Alzheimer's disease in a Dutch population-based study
    Alejandro Arias-Vasquez
    Genetic Epidemiology Unit, Dept of Epidemiology and Biostatistics, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    J Neurol 255:655-62. 2008
    ..In our analysis, the haplotype tagged by the G allele of SNP rs2069442 was significantly associated with AD (p = 0.05). In conclusion, our study suggests that CDK5 may be associated with AD...
  10. ncbi request reprint Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene
    Sandra van 't Padje
    Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Dev Genes Evol 215:198-206. 2005
    ....
  11. pmc SIRT1 genetic variation is related to BMI and risk of obesity
    M Carola Zillikens
    Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
    Diabetes 58:2828-34. 2009
    ..SIRT1 has pleiotropic metabolic functions. We investigated whether SIRT1 genetic variation is associated with obesity...
  12. ncbi request reprint Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands
    Aida M Bertoli-Avella
    Genetic Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology and Biostatistics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    Hum Genet 119:51-60. 2006
    ..7-6.1, P < 0.001). Moreover, a common haplotype with excess of sharing among late-onset PD cases was observed on both regions. Our results suggest the existence of two loci influencing PD susceptibility on chromosome 9q and 14q...
  13. doi request reprint Clinical implications of old and new genes for open-angle glaucoma
    Wishal D Ramdas
    Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
    Ophthalmology 118:2389-97. 2011
    ..This study was performed to determine to what extent variants within established genes (MYOC, OPTN, and WDR36) and newly identified common genetic variants (ATOH7, CDKN2B, and SIX1) contribute to the risk of OAG...
  14. doi request reprint Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis
    Ilse A Hoppenbrouwers
    Department of Neurology, MS Centre ErasMS, Erasmus MC, Rotterdam, The Netherlands
    J Hum Genet 54:676-80. 2009
    ..Several of these risk genes, including CD58 and CLEC16A, are shared by different autoimmune diseases. Fine mapping studies will be needed to determine the functional contributions to distinct autoimmune phenotypes...
  15. pmc Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons
    Josien Levenga
    CBG Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 50, 3015 GE, P O Box 2040, Rotterdam 3000 CA, The Netherlands
    Neurobiol Dis 35:241-50. 2009
    ..In conclusion, we show that wild-type FMRP and FXR2P are able to recruit FMRP variants into RNA-granules and that the G-quartet-structure in FMR1 mRNA is not essential for its incorporation in RNA-granules...
  16. pmc A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population
    Fan Liu
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    Am J Hum Genet 81:17-31. 2007
    ..For this region, our analysis identified the NMNAT3 and CLSTN2 genes. Our findings confirm linkage to chromosome 11q25. We were unable to confirm SORL1; instead, our analysis points to the OPCML and HNT genes...
  17. ncbi request reprint Complement component C3 and risk of age-related macular degeneration
    Dominiek D G Despriet
    Department of Epidemiology and Biostatistics, Rotterdam, Erasmus Medical Centre, The Netherlands
    Ophthalmology 116:474-480.e2. 2009
    ..To explore the association between polymorphisms in the complement component 3 (C3) gene and age-related macular degeneration (AMD), and to investigate the modifying effect of complement factor H (CFH) Y402H, LOC387715 A69S and smoking...
  18. pmc Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study
    Mandy van Hoek
    Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands
    Diabetes 57:3122-8. 2008
    ..Genome-wide association (GWA) studies identified multiple new genetic variants that associate with type 2 diabetes. The predictive value of genetic testing for prediction of type 2 diabetes in the general population is unclear...
  19. doi request reprint Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Aβ-40 levels to presenilin 2
    Carla A Ibrahim-Verbaas
    Department of Neurology, Erasmus University Medical Center, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    Hum Genet 131:1869-76. 2012
    ..1 × 10(-3) for rs2514299). This linkage study of plasma concentrations of Aβ40 and Aβ42 yielded two suggestive regions, of which one points toward a known locus for familial AD...
  20. doi request reprint Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease
    Ekaterina Yonova-Doing
    Department of Clinical Genetics, Erasmus MC, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    Parkinsonism Relat Disord 18:567-71. 2012
    ..Common disease-causing mutations were not detected, suggesting that further investigations in PD patients from these populations might unravel the role of additional, still unknown genes...
  21. doi request reprint A genetic epidemiologic study of candidate genes involved in the optic nerve head morphology
    Andrea C Gasten
    Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
    Invest Ophthalmol Vis Sci 53:1485-91. 2012
    ..The purpose of the present study was to investigate whether genes encoding protein known to interact with protein encoded by SALL1 and SIX1 are also associated with either DA or VCDR...
  22. doi request reprint Shared genetic factors in the co-occurrence of symptoms of depression and cardiovascular risk factors
    Sandra Lopez-Leon
    Genetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands
    J Affect Disord 122:247-52. 2010
    ..We aim to investigate the extent to which shared genetic and shared environmental factors play a role in the co-occurrence of symptoms of depression and cardiovascular risk factors...
  23. ncbi request reprint Prospects of TAT-mediated protein therapy for fragile X syndrome
    Surya A Reis
    CBG Department of Clinical Genetics, Erasmus MC, 3000 DR Rotterdam, The Netherlands
    J Mol Histol 35:389-95. 2004
    ..However, uptake efficiency and velocity was lower than expected. Neuronal uptake was highly inefficient and the fusion protein demonstrated toxicity...
  24. pmc The role of body mass index, insulin, and adiponectin in the relation between fat distribution and bone mineral density
    M Carola Zillikens
    Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
    Calcif Tissue Int 86:116-25. 2010
    ..Inverse associations after adjustment for BMI suggest that android fat deposition as measured by the WHR, WTR, and DXA-based android-to-gynoid fat ratio is not beneficial and possibly even deleterious for bone...
  25. pmc Dopaminergic neuronal loss and dopamine-dependent locomotor defects in Fbxo7-deficient zebrafish
    Tianna Zhao
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    PLoS ONE 7:e48911. 2012
    ....
  26. pmc Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15)
    Tianna Zhao
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    PLoS ONE 6:e16983. 2011
    ..The activity of FBXO7 in the nucleus appears therefore crucial for the maintenance of brain neurons and the pathogenesis of PARK15...
  27. doi request reprint Common genetic variants associated with open-angle glaucoma
    Wishal D Ramdas
    Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
    Hum Mol Genet 20:2464-71. 2011
    ..These findings may shed new light on the pathophysiological protein pathways leading to glaucoma, and point to pathways involved in the growth and development of the optic nerve...
  28. doi request reprint Interactions between dietary vitamin E intake and SIRT1 genetic variation influence body mass index
    M Carola Zillikens
    Department of Internal Medicine, Room D428, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Am J Clin Nutr 91:1387-93. 2010
    ..Genetic variation in SIRT1 has been associated with body mass index (BMI) and risk of obesity. SIRT1 may be influenced by diet...
  29. ncbi request reprint Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish
    Sandra Van't Padje
    CBG Department of Clinical Genetics, Erasmus MC, 3015 CE Rotterdam, The Netherlands
    J Exp Biol 212:2564-70. 2009
    ..This cardiac phenotype has not been previously described and suggests that fxr1 is essential for normal cardiac form and function...
  30. doi request reprint Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants
    Lei Zhang
    Department of Clinical Genetics, Erasmus MC, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Parkinsonism Relat Disord 19:897-900. 2013
    ..Arg1441His is also a PD-causing mutation. These findings have relevance for the genetic testing and counseling of PD patients in this population. ..
  31. ncbi request reprint Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring
    Robert Jan H Galjaard
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Med Genet A 121:168-73. 2003
    ..The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present the first case of an individual with isolated PAP-B and a submicroscopic chromosome abnormality...
  32. pmc Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease
    Marialuisa Quadri
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Am J Hum Genet 90:467-77. 2012
    ..This work has broad implications for understanding of the manganese biology and pathophysiology in multiple human organs...
  33. doi request reprint Association of cognitive functioning with retinal nerve fiber layer thickness
    Leonieke M E van Koolwijk
    Glaucoma Service, The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Invest Ophthalmol Vis Sci 50:4576-80. 2009
    ..The association between cognitive functioning and retinal nerve fiber layer (RNFL) thickness was assessed in a large, population-based sample...
  34. pmc Predicting human height by Victorian and genomic methods
    Yurii S Aulchenko
    Department of Epidemiology and Biostatistics and Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Eur J Hum Genet 17:1070-5. 2009
    ....
  35. pmc A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity
    Maria Luisa Conte
    Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands
    Pediatr Nephrol 23:587-95. 2008
    ..Our results suggest the presence of several novel loci for primary VUR, giving further evidence for the genetic heterogeneity of this disorder...
  36. doi request reprint Angiotensinogen M235T polymorphism and symptoms of depression in a population-based study and a family-based study
    Sandra Lopez-Leon
    Department of Epidemiology and Biostatistics, Erasmus University Medical Center, Rotterdam, The Netherlands
    Psychiatr Genet 18:162-6. 2008
    ..The aim of this paper is to examine the association between the AGT M235T polymorphism and symptoms of depression in two independent populations; a population-based study, and a family-based study...
  37. pmc Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
    Yurii S Aulchenko
    1 Department of Epidemiology and Biostatistics, Erasmus University Medical Center, P O Box 2040, 3000 CA Rotterdam, The Netherlands 2 These authors contributed equally to this work
    Nat Genet 41:47-55. 2009
    ..001) and coronary heart disease incidence (P = 0.04). The genetic risk score improves the screening of high-risk groups of dyslipidemia over classical risk factors...
  38. doi request reprint A study of the SORL1 gene in Alzheimer's disease and cognitive function
    Fan Liu
    Genetic Epidemiology Unit, Erasmus Medical Center, Rotterdam, The Netherlands
    J Alzheimers Dis 18:51-64. 2009
    ..In conclusion, our data do not support the hypothesis that genetic variants in SORL1 are related to the risk of AD...
  39. ncbi request reprint Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration
    Dominiek D G Despriet
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    JAMA 296:301-9. 2006
    ..Recent case-control studies demonstrated an association between the complement factor H (CFH) gene, a regulator of complement, and AMD...
  40. pmc Association between type 2 diabetes loci and measures of fatness
    Slavica Pecioska
    Department of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    PLoS ONE 5:e8541. 2010
    ..Our aim was to evaluate whether the recently identified T2D risk alleles are associated with human measures of fatness as characterized with Dual Energy X-ray Absorptiometry (DEXA)...
  41. doi request reprint A genome-wide screen for depression in two independent Dutch populations
    Suzanne Schol-Gelok
    Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands
    Biol Psychiatry 68:187-96. 2010
    ..Depression has a strong genetic component but candidate gene studies conducted to date have not shown consistent associations...
  42. ncbi request reprint Plasma phosphatidylcholine and sphingomyelin concentrations are associated with depression and anxiety symptoms in a Dutch family-based lipidomics study
    Ayse Demirkan
    Genetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    J Psychiatr Res 47:357-62. 2013
    ....
  43. ncbi request reprint Epistatic effect of cholesteryl ester transfer protein and hepatic lipase on serum high-density lipoprotein cholesterol levels
    Aaron Isaacs
    Genetic Epidemiology Unit, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands
    J Clin Endocrinol Metab 92:2680-7. 2007
    ..The objectives of the current study were to characterize the effect of the hepatic lipase variant, and its interaction with the CETP variant, in terms of cholesterol levels, atherosclerosis, and risk of myocardial infarction (MI)...
  44. doi request reprint FBXO7 immunoreactivity in α-synuclein-containing inclusions in Parkinson disease and multiple system atrophy
    Tianna Zhao
    Departments of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    J Neuropathol Exp Neurol 72:482-8. 2013
    ..By contrast, weak FBXO7 immunoreactivity was occasionally detected in tau-positive inclusions in AD and PSP. These findings suggest a role for FBXO7 in the pathogenesis of the synucleinopathies...
  45. ncbi request reprint Effects of the renin-angiotensin system genes and salt sensitivity genes on blood pressure and atherosclerosis in the total population and patients with type 2 diabetes
    Mojgan Yazdanpanah
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    Diabetes 56:1905-12. 2007
    ..04 mm, P = 0.02). We found that among type 2 diabetic patients, mean systolic blood pressure, pulse pressure, and risk of hypertension increased with the number of risk genotypes for the RAS genes and the salt sensitivity genes...
  46. doi request reprint An empirical comparison of meta-analyses of published gene-disease associations versus consortium analyses
    A Cecile J W Janssens
    Department of Public Health, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands
    Genet Med 11:153-62. 2009
    ..It is not clear how the results obtained by consortia compare with those derived from meta-analyses of published studies...
  47. doi request reprint Genetic architecture of open angle glaucoma and related determinants
    Wishal D Ramdas
    Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
    J Med Genet 48:190-6. 2011
    ..We evaluated whether the same genes that determine VCDR and IOP also predict OAG...
  48. pmc Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder
    Rinus Vegt
    Department of Psychiatry, Erasmus Medical Centre, Rotterdam, The Netherlands
    Eur J Hum Genet 18:206-11. 2010
    ..Hopefully, the genome-wide association studies in ADHD will help to highlight specific polymorphisms and genes within the broad areas detected by our, as well as other, linkage studies...
  49. ncbi request reprint Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease
    Alessio Di Fonzo
    Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands
    Eur J Hum Genet 14:322-31. 2006
    ..These data have implications both for understanding the molecular mechanisms of PD, and for directing the genetic screening in clinical practice...
  50. ncbi request reprint The cholesteryl ester transfer protein (CETP) gene and the risk of Alzheimer's disease
    Alejandro Arias-Vasquez
    Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    Neurogenetics 8:189-93. 2007
    ..04). Our results suggest that the VV genotype of the I405V polymorphism of the CETP gene increases the risk of AD in the absence of the APOE*4 allele, probably through a cholesterol metabolism pathway in the brain...
  51. doi request reprint Role of shared genetic and environmental factors in symptoms of depression and body composition
    Wing Chi Choy
    Department of Epidemiology and Biostatistics, Genetic Epidemiology Unit, Erasmus University Medical Center, Rotterdam, The Netherlands
    Psychiatr Genet 19:32-8. 2009
    ..Both obesity and lean mass have been correlated with symptoms of depression...
  52. doi request reprint Maternal transmission of multiple sclerosis in a dutch population
    Ilse A Hoppenbrouwers
    Department of Neurology, MC Centre Erasmus, Rotterdam, The Netherlands
    Arch Neurol 65:345-8. 2008
    ..To investigate the parental relationship of patients with multiple sclerosis (MS) from an extended pedigree with extensive genealogical information up to the middle of the 18th century...
  53. ncbi request reprint Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo
    Edwin J Mientjes
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 13:1291-302. 2004
    ..The results presented here point towards a role for Fxr1p in muscle mRNA transport/translation control similar to that seen for Fmrp in neuronal cells...
  54. pmc ROBO2 gene variants are associated with familial vesicoureteral reflux
    Aida M Bertoli-Avella
    Department of Clinical Genetics, Erasmus MC Rotterdam, P O Box 2040, 3000 CA, Rotterdam, Netherlands
    J Am Soc Nephrol 19:825-31. 2008
    ..In conclusion, a relatively high frequency of ROBO2 variants (5.1%) was found in familial cases; however, functional studies and validation in other cohorts are warranted...
  55. pmc A genome-wide association study of optic disc parameters
    Wishal D Ramdas
    Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
    PLoS Genet 6:e1000978. 2010
    ..Three of the loci were marginally associated with open-angle glaucoma. The protein pathways in which the loci of optic disc area are involved overlap with those identified for VCDR, suggesting a common genetic origin...
  56. pmc Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia
    Marialuisa Quadri
    Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 12:203-9. 2011
    ..The TDP-43 protein might be directly involved in a broader neurodegenerative spectrum, including not only motoneuron disease and FTLD but also PD...
  57. ncbi request reprint Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells
    Mariette Schrier
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Exp Neurol 189:343-53. 2004
    ....
  58. ncbi request reprint A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan
    Alessio Di Fonzo
    Department of Clinical Genetics, Erasmus MC Rotterdam, P O Box 1738, 3000 DR, Rotterdam, The Netherlands
    Neurogenetics 7:133-8. 2006
    ..Our findings suggest that the LRRK2 Gly2385Arg is the first identified, functionally relevant variant, which acts as common risk factor for sporadic PD in the population of Chinese ethnicity...
  59. pmc Common genetic determinants of intraocular pressure and primary open-angle glaucoma
    Leonieke M E van Koolwijk
    Glaucoma Service, The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    PLoS Genet 8:e1002611. 2012
    ..Both genes functionally interact with known glaucoma disease genes. These data suggest that we have identified two clinically relevant genes involved in IOP regulation...
  60. pmc NPHP4 variants are associated with pleiotropic heart malformations
    Vanessa M French
    Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Circ Res 110:1564-74. 2012
    ..Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs...
  61. doi request reprint Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
    Ingrid M B H van de Laar
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    J Med Genet 49:47-57. 2012
    ..AOS is caused by mutations in the SMAD3 gene...
  62. pmc Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
    Karol Estrada
    Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
    Nat Genet 44:491-501. 2012
    ..3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility...
  63. pmc Association of HSP70 and its co-chaperones with Alzheimer's disease
    Linda Broer
    Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
    J Alzheimers Dis 25:93-102. 2011
    ..However, our findings of the single SNP analysis and pathway analysis suggest that multiple genetic variants in prefoldin are associated with AD...
  64. pmc Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly
    Elisabeth M Lodder
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Chromosome Res 17:737-44. 2009
    ....
  65. pmc Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice
    Femke M S de Vrij
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Neurobiol Dis 31:127-32. 2008
    ..Moreover, we show for the first time a structural rescue of Fragile X related protrusion morphology with two independent mGluR5 antagonists...
  66. doi request reprint AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome
    Josien Levenga
    Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Neurobiol Dis 42:311-7. 2011
    ..These results suggest that AFQ056 might be a potent mGluR5 antagonist to rescue various aspects of the fragile X phenotype...
  67. ncbi request reprint The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair
    Steven Bergink
    MGC CBG Department of Cell Biology and Genetics, Erasmus MC, P O Box 1738, 3000DR, Rotterdam, The Netherlands
    Neurobiol Dis 23:708-16. 2006
    ..This illustrates that impairment of the ubiquitin-proteasome system (UPS) by expanded glutamine repeats, including the sequestration of HR23B, is not affecting NER...
  68. ncbi request reprint The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy
    Chiara Criscuolo
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Mov Disord 26:1733-6. 2011
    ..Mutations in the leucine-rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine-rich repeat kinase 2 mutation across several Mediterranean countries...
  69. ncbi request reprint Fragile X syndrome, the Fragile X related proteins, and animal models
    Andre T Hoogeveen
    Department of Clinical Genetics, Erasmus University, 3000 DR Rotterdam, The Netherlands
    Microsc Res Tech 57:148-55. 2002
    ..Phenotypic features of the FMR1 knockout mouse, the FMR1 transgenic rescue mouse, and other novel strategies for manipulating and delivering FMRP and FXRPs to the brain and other tissues are described...
  70. pmc Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred
    Guido J Breedveld
    Department of Clinical Genetics, Erasmus MC, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 11:417-23. 2010
    ..1. Suggestive linkage to an overlapping region of chromosome 14q was reported in a recent scan of TS sibling pairs. This region might therefore contain an important gene for TS, and it should be prioritized for further study...
  71. ncbi request reprint Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology
    Leonieke M E van Koolwijk
    Glaucoma Service, The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Invest Ophthalmol Vis Sci 48:3669-76. 2007
    ....
  72. ncbi request reprint A deletion in DJ-1 and the risk of dementia--a population-based survey
    Alejandro Arias Vasquez
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Neurosci Lett 372:196-9. 2004
    ..All subjects were heterozygous for the deletion and related to a common ancestor within eight generations. Our results suggest it is unlikely that haploinsufficiency in the DJ-1 gene imparts an increased risk for dementia...
  73. ncbi request reprint Heritability of blood pressure traits and the genetic contribution to blood pressure variance explained by four blood-pressure-related genes
    Marie Josee E van Rijn
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    J Hypertens 25:565-70. 2007
    ..To study the heritability of four blood pressure traits and the proportion of variance explained by four blood-pressure-related genes...
  74. ncbi request reprint A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands
    Yurii S Aulchenko
    Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    Diabetes 52:3001-4. 2003
    ..25 [2.1-71], P = 0.003). A locus on chromosome 18p in patients with high BMI was suggested earlier by Parker et al. Our study is the first to confirm this locus...
  75. doi request reprint Microsatellite repeat instability and neurological disease
    Judith R Brouwer
    Department of Clinical Genetics, ErasmusMC, Rotterdam, The Netherlands
    Bioessays 31:71-83. 2009
    ..Finally, the question of why the often harmful unstable repeats have been maintained throughout evolution is addressed...
  76. pmc Genomewide association studies of stroke
    M Arfan Ikram
    Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    N Engl J Med 360:1718-28. 2009
    ..The genes underlying the risk of stroke in the general population remain undetermined...
  77. pmc Suggestive linkage of ADHD to chromosome 18q22 in a young genetically isolated Dutch population
    Najaf Amin
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics and Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Eur J Hum Genet 17:958-66. 2009
    ..Furthermore, there was an excess of regions harbouring serotonin receptors (HTR1B, HTR1E, HTR4, HTR1D, and HTR6) that showed a LOD score >1 in our genome-wide scan...
  78. ncbi request reprint A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study
    Isabella Kardys
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    J Am Coll Cardiol 47:1568-75. 2006
    ..This study was designed to investigate the association between a common polymorphism (Tyr402His, rs1061170) in the complement factor H (CFH) gene and risk of coronary heart disease...
  79. doi request reprint Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice
    Josien Levenga
    CBG Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Neurobiol Learn Mem 95:467-72. 2011
    ..Our results show a hippocampal CA1-specific altered protrusion phenotype, which was absent in the CA3 region of the hippocampus. This suggests a subregion-specific function of FMRP in synaptic plasticity in the brain...
  80. pmc A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions
    A Cecile J W Janssens
    Department of Public Health, Erasmus MC University Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Am J Hum Genet 82:593-9. 2008
    ..There is insufficient scientific evidence to conclude that genomic profiles are useful in measuring genetic risk for common diseases or in developing personalized diet and lifestyle recommendations for disease prevention...
  81. ncbi request reprint CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder
    Annemieke J M H Verkerk
    Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Genomics 82:1-9. 2003
    ....
  82. pmc A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Hum Genet 72:191-9. 2003
    ..The present FGF14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia...
  83. pmc Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems
    Alice S Brooks
    Department of Clinical Genetics, Sophia Children s Hospital, Erasmus MC, Rotterdam, The Netherlands
    Am J Hum Genet 77:120-6. 2005
    ....
  84. ncbi request reprint A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands
    Norbert Vaessen
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    Diabetes 51:856-9. 2002
    ..Both the 8q and 17q localization are supported by allele-sharing at adjacent markers in affected individuals. Statistical evidence for a conserved ancestral haplotype was found for chromosome 8q24...
  85. doi request reprint Shared constitutional risks for maternal vascular-related pregnancy complications and future cardiovascular disease
    Anne L Berends
    Division of Obstetrics and Prenatal Medicine, Department of Obstetrics and Gynecology, University Medical Center Rotterdam, Rotterdam, The Netherlands
    Hypertension 51:1034-41. 2008
    ..These findings suggest shared constitutional risks for vascular-related pregnancy complications and future cardiovascular disease...
  86. doi request reprint Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands
    Anne L Berends
    Department of Obstetrics and Gynaecology, Division of Obstetrics and Prenatal Medicine, University Medical Centre Rotterdam, The Netherlands
    Eur J Hum Genet 16:1437-42. 2008
    ..The high proportion of parental consanguineous marriages suggests the possibility of an underlying recessive mutation. No evidence was found for a parent-of-origin effect either in preeclampsia or in intrauterine growth restriction...
  87. ncbi request reprint LPIN2 is associated with type 2 diabetes, glucose metabolism, and body composition
    Yurii S Aulchenko
    Department of Epidemiology and Biostatistics, Erasmus Medical Centre Rotterdam, Postbus 2040, 3000 CA Rotterdam, Netherlands
    Diabetes 56:3020-6. 2007
    ..To identify the type 2 diabetes gene located at chromosome 18p11...
  88. ncbi request reprint A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34
    Robert Jan H Galjaard
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Eur J Hum Genet 11:409-15. 2003
    ..We performed a whole-genome search and found linkage between PAP and markers on chromosome 7q. The highest LOD score was 3.34 obtained at D7S1799 and D7S500 with multipoint analysis...
  89. ncbi request reprint A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
    Marja W Wessels
    Departments of Clinical Genetics, Erasmus Medical Centre, Westzeedijk 112, 3016 AH, Rotterdam, The Netherlands
    Hum Genet 122:595-603. 2008
    ..Taken together, the genomic region could be reduced to 9.4 cM (12 Mb) containing several functional candidate genes for this complex heterotaxy phenotype...
  90. ncbi request reprint The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
    Rob Willemsen
    CBG Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mol Genet 12:949-59. 2003
    ..This mouse model will facilitate the possibilities to perform studies at the molecular level from onset of symptoms until the final stage of the disease...
  91. ncbi request reprint The fragile X syndrome: from molecular genetics to neurobiology
    Rob Willemsen
    CBG Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Ment Retard Dev Disabil Res Rev 10:60-7. 2004
    ..This review highlights the role of FMRP in dendritic mRNA transport/translation in relation to synaptic plasticity, a molecular mechanism implicated in learning and memory...
  92. pmc Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
    Manfred Kayser
    Department of Forensic Molecular Biology, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands
    Am J Hum Genet 82:411-23. 2008
    ..Testing markers in the HERC2-OCA2 region may be useful in forensic applications to predict eye color phenotypes of unknown persons of European genetic origin...
  93. ncbi request reprint Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    J Mol Med (Berl) 82:163-74. 2004
    ..Although much work remains to be done to clarify the biology of DJ-1, its proposed activity as a molecular chaperone and/or as oxidative sensor appear intriguing in the light of the current theories on the pathogenesis of PD...
  94. ncbi request reprint Chasing genes in Alzheimer's and Parkinson's disease
    Aida M Bertoli-Avella
    Genetic Epidemiology Unit, Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000 DR, Rotterdam, The Netherlands
    Hum Genet 114:413-38. 2004
    ..Their imbricate features point to a spectrum of neurodegeneration (tauopathies, synucleinopathies, amyloidopathies) that need further intense investigation to find the missing links...
  95. pmc A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation
    Karol Estrada
    Department of Internal Medicine, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands
    Hum Mol Genet 18:3516-24. 2009
    ..1 x 10(-7)). Taken together, these results suggest that variation in the C-type natriuretic peptide signaling pathway, involving the NPPC and NPR3 genes, plays an important role in determining human body height...
  96. ncbi request reprint Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center Rotterdam, The Netherlands
    Mov Disord 21:396-401. 2006
    ..Behavioral problems were also observed. Further investigations will have to determine the role of FGF14 in the pathogenesis of neurodegeneration and the frequency of this FGF14 mutation in SCA. (c) 2005 Movement Disorder Society...
  97. ncbi request reprint FXTAS: a progressive neurologic syndrome associated with Fragile X premutation
    Rob Willemsen
    Department of Clinical Genetics, Erasmus MC, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    Curr Neurol Neurosci Rep 5:405-10. 2005
    ..This review discusses recent developments in the clinical phenotype, prevalence and screening, animal models, and molecular mechanisms of RNA-based pathogenesis in FXTAS...
  98. pmc A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 10:289-97. 2009
    ..These results expand the clinical spectrum of HMN and suggest a digenic inheritance of HMN in this family with a BSCL2 mutation and a chromosome 16 locus likely contributing to the phenotype...
  99. ncbi request reprint High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
    Joaquim J Ferreira
    Neurological Clinic Research Unit, Institute of Molecular Medicine, Lisbon School of Medicine, Lisbon, Portugal
    Mov Disord 22:1194-201. 2007
    ..These data have important implications for the diagnostic work-up and genetic counseling of patients with this disease in Portugal...
  100. pmc Genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome-related traits
    Peter Henneman
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Diabetes Care 33:908-13. 2010
    ....
  101. ncbi request reprint The fragile X gene and its function
    B A Oostra
    Department of Clinical Genetics, Erasmus Universitry, Rotterdam, The Netherlands
    Clin Genet 60:399-408. 2001
    ..Knowledge has been collected about the mutation mechanism, although still not all players that allow the destabilization of the CGG repeat are known...