B A Oostra

Summary

Affiliation: Erasmus University
Country: The Netherlands

Publications

  1. ncbi request reprint Animal model for fragile X syndrome
    B A Oostra
    MGC Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Ann Med 29:563-7. 1997
  2. ncbi request reprint Diagnostic tests for fragile X syndrome
    B A Oostra
    Dept Clinical Genetics, Erasmus University, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Expert Rev Mol Diagn 1:226-32. 2001
  3. 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
  4. ncbi request reprint The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins
    F Tamanini
    Department of Clinical Genetics and Centre for Biomedical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 9:1487-93. 2000
  5. pmc The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II
    M M Hermans
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Biochem J 289:687-93. 1993
  6. ncbi request reprint Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations
    F Tamanini
    Department of Clinical Genetics and Center for Biomedical Genetics, Erasmus University, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Hum Mol Genet 8:863-9. 1999
  7. ncbi request reprint Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II
    M M Hermans
    Department of Cell Biology, Genetics and Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mutat 2:268-73. 1993
  8. pmc Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P
    F Tamanini
    Department of Clinical Genetics and Centre for Biomedical Genetics, Erasmus University, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Biochem J 343:517-23. 1999
  9. ncbi request reprint ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
    A Di Fonzo
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Neurology 68:1557-62. 2007
  10. doi request reprint Genetic risk factors for cerebral small-vessel disease in hypertensive patients from a genetically isolated population
    M Schuur
    Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 82:41-4. 2011

Detail Information

Publications70

  1. ncbi request reprint Animal model for fragile X syndrome
    B A Oostra
    MGC Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Ann Med 29:563-7. 1997
    ..This review presents what is known about the protein and what is learned from the animal model for fragile X syndrome...
  2. ncbi request reprint Diagnostic tests for fragile X syndrome
    B A Oostra
    Dept Clinical Genetics, Erasmus University, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Expert Rev Mol Diagn 1:226-32. 2001
    ..This review provides an update on the different DNA methods and gives specific attention to both the newly developed PCR method and antibody methods for prenatal and postnatal diagnosis of the fragile X syndrome...
  3. 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...
  4. ncbi request reprint The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins
    F Tamanini
    Department of Clinical Genetics and Centre for Biomedical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 9:1487-93. 2000
    ..This domain is absent in some FXR1P isoforms as well as in all FMRP isoforms, suggesting functional differences for this family of proteins, possibly related to RNA metabolism in different tissues...
  5. pmc The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II
    M M Hermans
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Biochem J 289:687-93. 1993
    ....
  6. ncbi request reprint Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations
    F Tamanini
    Department of Clinical Genetics and Center for Biomedical Genetics, Erasmus University, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Hum Mol Genet 8:863-9. 1999
    ..Therefore, molecular dissection of the shuttling routes used by the FXR proteins suggests that they transport different RNAs...
  7. ncbi request reprint Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II
    M M Hermans
    Department of Cell Biology, Genetics and Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mutat 2:268-73. 1993
    ..Both mutations had a similar effect. The synthesis of the mutant enzyme precursors was not disturbed but the intracellular transport and maturation were impaired. As a result there was an overall deficiency of catalytic activity...
  8. pmc Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P
    F Tamanini
    Department of Clinical Genetics and Centre for Biomedical Genetics, Erasmus University, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Biochem J 343:517-23. 1999
    ..These results suggest that the FXR proteins form homo-multimers preferentially under physiological conditions in mammalian cells, and might participate in mRNP particles with separate functions...
  9. ncbi request reprint ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
    A Di Fonzo
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Neurology 68:1557-62. 2007
    ..To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset <21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD)...
  10. doi request reprint Genetic risk factors for cerebral small-vessel disease in hypertensive patients from a genetically isolated population
    M Schuur
    Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 82:41-4. 2011
    ..We examined the role of a series of candidate genes involved in blood pressure regulation and amyloid metabolism...
  11. pmc Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation
    J R Brouwer
    Department of Clinical Genetics, Erasmus MC, 3000 DR Rotterdam, The Netherlands
    Exp Cell Res 313:244-53. 2007
    ....
  12. ncbi request reprint Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
    C Verheij
    MGC Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Nature 363:722-4. 1993
    ..Localization was also predominantly cytoplasmic in the epithelium of the oesophagus, but in some cells was obviously nuclear...
  13. ncbi request reprint Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse
    C E Bakker
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Exp Cell Res 258:162-70. 2000
    ..The similarities and differences between the distribution of the Fxr proteins have implications with respect to their normal function and the pathogenesis of the fragile X syndrome...
  14. pmc Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex
    L H Hoefsloot
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    EMBO J 7:1697-704. 1988
    ..This strongly suggests that the aspartic acid residue at this position is essential for catalytic function of lysosomal alpha-glucosidase...
  15. ncbi request reprint Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone
    R J Galjaard
    Department of Clinical Genetics, Erasmus University Rotterdam University Hospital Rotterdam, Rotterdam, Netherlands
    Am J Med Genet 98:256-62. 2001
    ..We present evidence that differences in complexity are not only due to locus heterogeneity, but that genetic modifiers and/or environmental factors must also play a role...
  16. ncbi request reprint A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
    H Meijer
    Department of Clinical Genetics, Faculty of Medicine, University of Limburg, Maastricht, The Netherlands
    Hum Mol Genet 3:615-20. 1994
    ..Finally, the data provide additional evidence that the fragile X syndrome is a single gene disorder...
  17. doi request reprint EVI5 is a risk gene for multiple sclerosis
    I A Hoppenbrouwers
    Department of Neurology, MS Centre ErasMS, Erasmus MC, Rotterdam, The Netherlands
    Genes Immun 9:334-7. 2008
    ..15; P=0.03 and OR 1.15; P=0.04). This study confirms EVI5 as another risk locus for MS; however, much of the genetic basis of MS remains unidentified...
  18. ncbi request reprint Familial aggregation, the PDE4D gene, and ischemic stroke in a genetically isolated population
    M J E van Rijn
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, 3000 DR Rotterdam, The Netherlands
    Neurology 65:1203-9. 2005
    ..The purpose of this investigation was to study the familial aggregation of ischemic stroke and the association between the PDE4D gene and ischemic stroke...
  19. ncbi request reprint The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks
    M M Hermans
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Genomics 16:300-1. 1993
  20. ncbi request reprint Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes
    V Bonifati
    Department of Clinical Genetics, Erasmus MC Rotterdam, The Netherlands
    Neurology 65:87-95. 2005
    ..To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (<50 years) parkinsonism...
  21. pmc Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites
    M M Hermans
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Biochem J 289:681-6. 1993
    ....
  22. ncbi request reprint X-linked recessive inheritance of radial ray deficiencies in a family with four affected males
    R J Galjaard
    Department of Clinical Genetics, Erasmus University University Hospital, Rotterdam, The Netherlands
    Eur J Hum Genet 9:653-8. 2001
    ..93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis...
  23. pmc CGG repeat in the FMR1 gene: size matters
    R Willemsen
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Clin Genet 80:214-25. 2011
    ..The pathogenic mechanisms thought to underlie these disorders are discussed. This review gives insight on the implications of all possible repeat length categories seen in fragile X families...
  24. pmc Polymorphisms of the renin-angiotensin system are associated with blood pressure, atherosclerosis and cerebral white matter pathology
    M J E van Rijn
    Department of Epidemiology and Biostatistics, Erasmus Medical Centre, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 78:1083-7. 2007
    ..We studied the association between the M235T polymorphism of the angiotensinogen gene (AGT) and the C573T polymorphism of the angiotensin II type 1 receptor (AT1R) and blood pressure, carotid atherosclerosis and cerebrovascular disease...
  25. doi request reprint A genome-wide linkage study of individuals with high scores on NEO personality traits
    N Amin
    Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands
    Mol Psychiatry 17:1031-41. 2012
    ..No evidence for CNVs in any of the associated regions was found. Our findings imply that there may be genes with relatively large effects involved in personality traits, which may be identified with next-generation sequencing techniques...
  26. doi request reprint Sex-specific genetic effects influence variation in body composition
    M C Zillikens
    Department of Internal Medicine, Erasmus Medical Centre, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Diabetologia 51:2233-41. 2008
    ..Despite well-known sex differences in body composition it is not known whether sex-specific genetic or environmental effects contribute to these differences...
  27. doi request reprint FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
    A Di Fonzo
    Department of Clinical Genetics, Erasmus MC, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    Neurology 72:240-5. 2009
    ..Very recently, a locus was mapped in a single family with an overlapping phenotype, and an FBXO7 gene mutation was nominated as the likely disease cause...
  28. ncbi request reprint The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo
    E J Mientjes
    Erasmus MC, CBG Department of Clinical Genetics, Erasmus University, Room Ee971, P O Box 1738, 3000 DR, Rotterdam, The Netherlands
    Neurobiol Dis 21:549-55. 2006
    ..Crossing the Fmr1 CKO line with a Purkinje cell-specific cre-recombinase expresser produces mice that are null for Fmr1 in Purkinje neurons but wild type in all other cell types...
  29. ncbi request reprint Characterization of FMR1 proteins isolated from different tissues
    C Verheij
    MGC Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 4:895-901. 1995
    ..These low molecular mass FMR1 proteins did not bind RNA, in contrast with the high molecular mass FMR1 proteins. The significance of these low molecular mass proteins remains to be studied...
  30. ncbi request reprint Genetic and clinical analysis of a large Dutch Gilles de la Tourette family
    A J M H Verkerk
    Department of Bioinformatics, Erasmus Medical Center, Rotterdam, The Netherlands
    Mol Psychiatry 11:954-64. 2006
    ..Subsequent linkage analysis resulted in three linkage peaks on different chromosomes 3q, 9q, and 13q. Multipoint analysis resulted in a single linkage peak with logarithm of odds score 2.55 with marker D3S1311 on chromosome 3q...
  31. pmc Insulin-resistance and metabolic syndrome are related to executive function in women in a large family-based study
    M Schuur
    Genetic Epidemiology Unit Ee2173, Department of Epidemiology, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Eur J Epidemiol 25:561-8. 2010
    ..MetS and high HOMA-IR were associated with poorer executive function in women (P = 0.03 and P = 0.009). MetS and HOMA-IR are associated with poorer executive function in women...
  32. pmc Savings and extinction of conditioned eyeblink responses in fragile X syndrome
    A E Smit
    Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands
    Genes Brain Behav 7:770-7. 2008
    ....
  33. doi request reprint Body composition by dual-energy X-ray absorptiometry in women with previous pre-eclampsia or small-for-gestational-age offspring
    A L Berends
    Department of Obstetrics and Gynaecology, Division of Obstetrics and Prenatal Medicine, University Medical Center, Rotterdam, The Netherlands
    BJOG 116:442-51. 2009
    ..To investigate differences in body composition and fat distribution between women with previous pre-eclampsia or small-for-gestational-age (SGA) offspring and those with uncomplicated pregnancies...
  34. ncbi request reprint The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II
    M M Hermans
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 3:2213-8. 1994
    ..The delta T525 deletion was detected in two other unrelated patients, and also the C1634T transition was encountered in two more Caucasian patients with GSDII...
  35. ncbi request reprint Cerebrovascular risk factors do not contribute to genetic variance of cognitive function: the ERF study
    K Sleegers
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Neurobiol Aging 28:735-41. 2007
    ....
  36. ncbi request reprint Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome
    S K E Koekkoek
    Department of Neuroscience, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Neuron 47:339-52. 2005
    ..These data indicate that a lack of FMRP leads to cerebellar deficits at both the cellular and behavioral levels and raise the possibility that cerebellar dysfunctions can contribute to motor learning deficits in Fragile X patients...
  37. ncbi request reprint Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene
    L C P Govaerts
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Clin Genet 72:138-44. 2007
    ..Moreover, this patient showed no correlation between FMRP expression and phenotype and no correlation between DNA diagnostics and phenotype...
  38. pmc Characterization of the human lysosomal alpha-glucosidase gene
    L H Hoefsloot
    MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Biochem J 272:493-7. 1990
    ..The GC content is high (80%) and distinct TATA and CCAAT motifs are lacking. Two potential binding sites for the AP-2 transcription factor are present. Four potential Sp-1 binding sites are located downstream of the 5' end of the mRNA...
  39. ncbi request reprint A clinical-genetic study of Parkinson's disease in a genetically isolated community
    M C J Dekker
    Genetic Epidemiologic Unit, Dept of Epidemiology, Erasmus MC, Rotterdam, The Netherlands
    J Neurol 250:1056-62. 2003
    ..The finding of a common ancestor in 41 idiopathic-PD patients along with the exclusion of known PD genes and loci suggests the presence of at least one other, yet unknown, susceptibility gene involved in PD in this population...
  40. ncbi request reprint Heritability of the function and structure of the arterial wall: findings of the Erasmus Rucphen Family (ERF) study
    F A Sayed-Tabatabaei
    Department of Epidemiology and Biostatistics, Erasmus Medical Centre, Postbus 1738, 3000 DR Rotterdam, The Netherlands
    Stroke 36:2351-6. 2005
    ....
  41. ncbi request reprint Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
    A G Bijvoet
    Department of Clinical Genetics, Erasmus University, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Hum Mol Genet 7:53-62. 1998
    ..The mouse model will help greatly to understand the pathogenic mechanism of GSDII and is a valuable instrument to explore the efficacy of different therapeutic interventions...
  42. ncbi request reprint Screening with the FMR1 protein test among mentally retarded males
    B B de Vries
    Department of Clinical Genetics, University Hospital Dijkzigt and Erasmus University, Rotterdam, The Netherlands
    Hum Genet 103:520-2. 1998
    ..The results also suggest that mutations other than the CGG repeat leading to absence of detectable FMRP are apparently rare among mentally retarded males...
  43. ncbi request reprint A fragile gene
    B A Oostra
    MGC Dept of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Bioessays 17:941-7. 1995
    ..An animal model for fragile X syndrome has been generated, which can be used to study the clinical and biochemical abnormalities caused by absence of FMR1 protein product...
  44. ncbi request reprint Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis
    F Tamanini
    MGC Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 6:1315-22. 1997
    ..However, we observed a different expression pattern in fetal brain as well as in adult and fetal testis, suggesting independent functions for the three proteins in those tissues during embryonic development and adult life...
  45. pmc Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36
    C M van Duijn
    Genetic Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Center Rotterdam, 3000 DR Rotterdam, The Netherlands
    Am J Hum Genet 69:629-34. 2001
    ..Therefore, we conclude that we have identified on chromosome 1 a second locus, PARK7, involved in autosomal recessive, early-onset parkinsonism...
  46. 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...
  47. ncbi request reprint Understanding fragile X syndrome: insights from animal models
    C E Bakker
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Cytogenet Genome Res 100:111-23. 2003
    ..The relevance of these studies to our understanding of fragile X syndrome is discussed...
  48. ncbi request reprint STOX1 gene in pre-eclampsia and intrauterine growth restriction
    A L Berends
    Division of Obstetrics and Prenatal Medicine, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands
    BJOG 114:1163-7. 2007
    ..Our findings do not confirm previous suggestions that STOX1 plays a major role in Dutch women with pre-eclampsia...
  49. ncbi request reprint PET neuroimaging and mutations in the DJ-1 gene
    M C J Dekker
    Genetic Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    J Neural Transm 111:1575-81. 2004
    ..In the, clinically unaffected, heterozygous relatives, F-DOPA metabolism was unremarkable, thus not suggesting a dosage effect of the DJ-1 gene...
  50. ncbi request reprint Familial clustering and genetic risk for dementia in a genetically isolated Dutch population
    K Sleegers
    Department of Epidemiology, Erasmus Medical Cetre, Rotterdam, The Netherlands
    Brain 127:1641-9. 2004
    ..Our data showed a strong familial clustering of various forms of dementia in this isolated Dutch population. A high percentage of late-onset Alzheimer's disease could be explained by APOE*4, but 55% of its origin is still unknown...
  51. pmc Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM
    N Amin
    Unit of Genetic Epidemiology, Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands
    Mol Psychiatry 17:1116-29. 2012
    ..Pathway analysis of differentially expressed genes revealed significantly enriched ubiquitin proteasome (P-value=2.2 × 10(-05)) and Parkinson's disease pathways (P-value=3.6 × 10(-05))...
  52. ncbi request reprint Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction
    H C Heus
    Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
    Mamm Genome 12:77-9. 2001
  53. doi request reprint A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus
    R A Oldenburg
    Department of Clinical Genetics, Erasmus Medical Center, CA Rotterdam, The Netherlands
    Hum Reprod 23:2835-41. 2008
    ..Mutations in a small number of autosomal genes (such as FOXL2 and NOBOX) have been identified as a cause of POF. However, in most cases, the disease underlying mechanisms are largely unknown...
  54. doi request reprint Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome
    J R Brouwer
    Department of Clinical Genetics, Erasmus MC, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    Psychoneuroendocrinology 33:863-73. 2008
    ..We hypothesize that altered regulation of the HPA axis and the amygdala and higher stress hormone levels in the mouse model for FXTAS may explain associated psychological symptoms in humans...
  55. ncbi request reprint The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease
    B S Harhangi
    Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands
    Neurosci Lett 270:1-4. 1999
    ..We conclude that the UCH-L1 gene is not a major gene responsible for familial PD...
  56. doi request reprint The FMR1 gene and fragile X-associated tremor/ataxia syndrome
    J R Brouwer
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Am J Med Genet B Neuropsychiatr Genet 150:782-98. 2009
    ..The pathogenic mechanisms thought to underlie these disorders are discussed, with a specific emphasis on FXTAS. This review gives insight on the implications of all possible repeat length categories seen in fragile X families...
  57. ncbi request reprint Meta-analyses of genetic studies on major depressive disorder
    S Lopez-Leon
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Erasmus University Medical Center, Rotterdam, The Netherlands
    Mol Psychiatry 13:772-85. 2008
    ..20), SLC6A4 44 bp Ins/Del S (OR, 1.11) alleles and the SLC6A3 40 bpVNTR 9/10 genotype (OR, 2.06). To date, there is statistically significant evidence for six MDD susceptibility genes (APOE, DRD4, GNB3, MTHFR, SLC6A3 and SLC6A4)...
  58. ncbi request reprint Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic forms
    V Bonifati
    Department of Clinical Genetics, Room Ee 975, Erasmus MC Rotterdam, P O Box 1738, 3000, DR Rotterdam, The Netherlands
    Cell Mol Life Sci 61:1729-50. 2004
    ..Moreover, we focus on the mechanisms of disease caused by alpha-synuclein and parkin mutations, and the implications of this growing body of knowledge for understanding the pathogenesis of the common forms of the disease...
  59. ncbi request reprint Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) Study
    O T Njajou
    Genetic Epidemiology Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Hum Hered 61:222-8. 2006
    ..Mutations in the HFE gene are associated with an increase in serum iron parameters. The aim of this study was to estimate the heritability in serum iron parameters explained by HFE...
  60. ncbi request reprint ACE polymorphisms
    F A Sayed-Tabatabaei
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Circ Res 98:1123-33. 2006
    ..Genotypic and phenotypic misclassifications, insufficient power in some studies, and the presence of interaction with other genes or environmental factors are possible explanations for the contradictory findings...
  61. ncbi request reprint Heritability of fasting glucose levels in a young genetically isolated population
    R L P Santos
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Erasmus MC Rotterdam, P O Box 1738, 3000 DR, Rotterdam, The Netherlands
    Diabetologia 49:667-72. 2006
    ..We also studied the relationship between FPG and components of the metabolic syndrome...
  62. pmc Genetic risk profiles for depression and anxiety in adult and elderly cohorts
    A Demirkan
    Genetic Epidemiology Unit of the Departments of Epidemiology and Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Mol Psychiatry 16:773-83. 2011
    ..Remarkably, the predictive value of these profiles was as large in the sample of elderly participants as in the middle-aged samples...
  63. ncbi request reprint A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36
    H C Heus
    Department of Clinical Genetics, Erasmus University Rotterdam, Rotterdam, 3000 DR, The Netherlands
    Genomics 57:342-51. 1999
    ..The homeobox gene HLXB9, a putative receptor C7orf2, and two transcripts of unknown function, C7orf3 and C7orf4, map in the refined candidate region and have been subjected to mutation analysis in individuals with preaxial polydactyly...
  64. ncbi request reprint A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction
    N Vaessen
    Department of Epidemiology and Biostatistics, the Center for Biomedical Genetics, Rotterdam, The Netherlands
    Diabetes 50:637-42. 2001
    ..4 (95% CI 1.1-11.3). Our study suggests that a genetically determined exposure to relatively low IGF-I levels is associated with an increased risk for type 2 diabetes and myocardial infarction...
  65. ncbi request reprint Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II
    M M Hermans
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Biochem Biophys Res Commun 179:919-26. 1991
    ..In homozygous form it leads to the severe infantile phenotype of glycogenosis type II...
  66. ncbi request reprint A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter
    P Heutink
    Department of Clinical Genetics, Academic Hospital Dijkzigt, Rotterdam, The Netherlands
    Hum Mol Genet 1:7-10. 1992
    ..0 at a recombination fraction theta = 0.0. Likelihood calculations yielded an odds ratio of 2.7 x 10(6) in favor of genomic imprinting versus the absence of genomic imprinting...
  67. ncbi request reprint Localization of two human homologs, HHR6A and HHR6B, of the yeast DNA repair gene RAD6 to chromosomes Xq24-q25 and 5q23-q31
    M H Koken
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Genomics 12:447-53. 1992
    ..Southern blot analysis points to an X and an autosomal localization of HHR6A and HHR6B, respectively, in the mouse. The potential involvement of these genes in human genetic disorders is discussed...
  68. pmc Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization
    M Klaassens
    Department of Paediatric Surgery, Erasmus Medical Centre, Rotterdam, The Netherlands
    Am J Hum Genet 76:877-82. 2005
    ..1-26.2. The region contains four known genes, of which two--NR2F2 and CHD2--are particularly intriguing gene candidates for CDH...
  69. ncbi request reprint Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder
    A S Brooks
    Department of Clinical Genetics, Erasmus MC, Rotterdam
    Clin Genet 67:6-14. 2005
    ..Finally, we speculate on possible strategies to identify new genes for Hirschsprung's disease...
  70. ncbi request reprint Human lysosomal alpha-glucosidase. Characterization of the catalytic site
    M M Hermans
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    J Biol Chem 266:13507-12. 1991
    ..The residues Trp-516 and Asp-518 are demonstrated to be critical for catalytic function...