P Heutink

Summary

Affiliation: Erasmus University
Country: The Netherlands

Publications

  1. ncbi request reprint Gene finding in genetically isolated populations
    Peter Heutink
    Institute of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mol Genet 11:2507-15. 2002
  2. ncbi request reprint Untangling tau-related dementia
    P Heutink
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 9:979-86. 2000
  3. 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
  4. 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
  5. 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
  6. pmc Benign hereditary chorea of early onset maps to chromosome 14q
    B B de Vries
    Department of Clinical Genetics, Erasmus University, 3000 DR Rotterdam, The Netherlands
    Am J Hum Genet 66:136-42. 2000
  7. 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
  8. ncbi request reprint A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease
    A M Bertoli Avella
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Neurogenetics 4:97-104. 2002
  9. 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
  10. 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

Detail Information

Publications79

  1. ncbi request reprint Gene finding in genetically isolated populations
    Peter Heutink
    Institute of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mol Genet 11:2507-15. 2002
    ..There remains much controversy and theoretical debate over the feasibility and advantages of such populations, but recent results speak in favor of the feasibility of this approach, and will be reviewed here...
  2. ncbi request reprint Untangling tau-related dementia
    P Heutink
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 9:979-86. 2000
    ..Understanding the disease processes will hopefully provide us with new leads in developing effective therapies for dementia...
  3. 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...
  4. 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...
  5. 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...
  6. pmc Benign hereditary chorea of early onset maps to chromosome 14q
    B B de Vries
    Department of Clinical Genetics, Erasmus University, 3000 DR Rotterdam, The Netherlands
    Am J Hum Genet 66:136-42. 2000
    ..The mapping of the BHC locus to 14q is a first step toward identification of the gene involved, which might, subsequently, shed light on the pathogenesis of this and other choreatic disorders...
  7. 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...
  8. ncbi request reprint A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease
    A M Bertoli Avella
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Neurogenetics 4:97-104. 2002
    ..In conclusion, we found a novel PSEN1 mutation in a large family with clinical and pathological diagnosis of early onset familial Alzheimer disease, which may be relevant for other Hispanic populations...
  9. 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...
  10. 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...
  11. pmc High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands
    P Rizzu
    Department of Clinical Genetics, Erasmus University, 3000 DR Rotterdam, The Netherlands
    Am J Hum Genet 64:414-21. 1999
    ..The different tau mutations may result in disturbances in the interactions of the protein tau with microtubules, resulting in hyperphosphorylation of tau protein, assembly into filaments, and subsequent cell death...
  12. ncbi request reprint The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q
    P Heutink
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Nat Genet 6:287-92. 1994
    ..To our knowledge this is the first time that a human gene involved solely in the pathologic morphogenesis of the hand and feet has been localized...
  13. ncbi request reprint DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
    V Bonifati
    Department of Clinical Genetics, Erasmus Medical Center Rotterdam, 1738 DR Rotterdam, The Netherlands
    Neurol Sci 24:159-60. 2003
    ..Elucidating the role of DJ-1 will lead to a better understanding of the pathogenesis of DJ-1-related and common forms of Parkinson's disease...
  14. ncbi request reprint Clinical and genetic heterogeneity in benign hereditary chorea
    G J Breedveld
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Neurology 59:579-84. 2002
    ..The variation in clinical features is such that its very existence has been doubted. The authors recently described the localization of a gene responsible for BHC on chromosome 14q in a large Dutch family...
  15. 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...
  16. ncbi request reprint Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11
    Y Q Wu
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 3:167-71. 1994
    ..10 at 6 cM from D11S935. The assignment of a second locus for EXT to the pericentromeric region of chromosome 11 implicates an area that is particularly rich in genes responsible for developmental abnormalities and neoplasia...
  17. 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
  18. 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...
  19. 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...
  20. ncbi request reprint Linkage disequilibrium in young genetically isolated Dutch population
    Yurii S Aulchenko
    Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, The Netherlands
    Eur J Hum Genet 12:527-34. 2004
    ..In these populations, a similar degree of LD is expected and thus they may be effectively used for linkage or LD mapping...
  21. 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...
  22. 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...
  23. ncbi request reprint DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia
    Patrizia Rizzu
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Ann Neurol 55:113-8. 2004
    ..Our study extends the view that different neurodegenerative diseases may have similar pathological mechanisms, and that these processes likely include DJ-1...
  24. 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...
  25. ncbi request reprint An English kindred with a novel recessive tauopathy and respiratory failure
    David J Nicholl
    Department of Neurology, City Hospital, University of Birmingham, Birmingham B18 7QH, UK
    Ann Neurol 54:682-6. 2003
    ..This disorder showed extensive tau neuropathology, and both had a novel homozygous S352L tau gene mutation. This is the first description of a pathologically proved young-onset tauopathy with apparent recessive inheritance...
  26. ncbi request reprint Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R
    Esther van Herpen
    Department of Clinical Genetics, Erasmus Medical Center, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands
    Ann Neurol 54:573-81. 2003
    ..All six tau isoforms were present in soluble brain tau. Recombinant tau proteins with the L315R mutation showed a reduced ability to promote microtubule assembly...
  27. ncbi request reprint Association of the gene encoding neurogranin with schizophrenia in males
    Dina Ruano
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Campus Gualtar, 4710 057 Braga, Portugal
    J Psychiatr Res 42:125-33. 2008
    ..This evidence, implicating NRGN in schizophrenia, introduces another player into the glutamatergic hypothesis of schizophrenia...
  28. ncbi request reprint Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Dement Geriatr Cogn Disord 17:261-4. 2004
    ..Future research should focus on the role of other genetic and environmental factors in this form of FTDP-17, whereas the responsible gene defect(s) has still to be identified for hereditary FTD without tau mutations...
  29. ncbi request reprint The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    J Neuropathol Exp Neurol 66:17-25. 2007
    ..These observations confirm the postulated hypothesis that the DeltaK280 mutation abolishes a splice enhancer element, which overrules the decreased microtubule binding and enhanced self-aggregation...
  30. ncbi request reprint DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor
    Nan Zhong
    Department of Neurology, Caritas St Elizabeth s Medical Center, Tufts University School of Medicine, Boston, Massachusetts 02135, USA
    J Biol Chem 281:20940-8. 2006
    ..Therefore, our results suggest DJ-1 as a regulator of protein sumoylation and directly link the loss of DJ-1 expression and transcriptional dysfunction to impaired dopamine synthesis...
  31. ncbi request reprint Progranulin mutations in Dutch familial frontotemporal lobar degeneration
    Iraad F Bronner
    Department of Human Genetics, Section Medical Genomics, VU University Medical Center and VU University, Amsterdam, The Netherlands
    Eur J Hum Genet 15:369-74. 2007
    ..Furthermore, we determined the frequency of PGRN mutations in familial cases recruited from a large population-based study of frontotemporal lobar degeneration carried out in The Netherlands...
  32. 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...
  33. ncbi request reprint A longitudinal twin study on IQ, executive functioning, and attention problems during childhood and early adolescence
    Tinca J C Polderman
    Department of Biological Psychology, Vrije Universiteit Amsterdam, The Netherlands
    Acta Neurol Belg 106:191-207. 2006
    ..IQ performance at age 5 was the best predictor of IQ at age 12. IQ at both ages was influenced by the same genes, whose influence was amplified during development...
  34. ncbi request reprint Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
    Douglas B Gould
    Howard Hughes Medical Institute, Bar Harbor, ME 04609, USA
    Science 308:1167-71. 2005
    ..We also show that COL4A1 mutations segregate with porencephaly in human families. Because not all mutant mice develop porencephaly, we propose that Col4a1 mutations conspire with environmental trauma in causing the disease...
  35. 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...
  36. ncbi request reprint Novel parkin mutations detected in patients with early-onset Parkinson's disease
    Aida M Bertoli-Avella
    Genetic Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology and Biostatistics, Erasmus MC Rotterdam, The Netherlands
    Mov Disord 20:424-31. 2005
    ..This study confirms the frequent involvement of parkin and the importance of genetic testing in the diagnostic work-up of EOP...
  37. ncbi request reprint Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
    Marjo S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 59:504-11. 2006
    ..The objective of this study was to describe leukoencephalopathy, lacunar infarcts, microbleeds and macrobleeds in the context of a collagen IV A1 mutation...
  38. ncbi request reprint Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations
    Sonia M Rosso
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Arch Neurol 60:1209-13. 2003
    ..Mutations in the tau gene have been found in the familial form of FTD, linked to chromosome 17q21-22, showing a spectrum of tauopathy...
  39. ncbi request reprint A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease
    Sonia M Rosso
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Ann Neurol 51:373-6. 2002
    ..Recombinant tau protein with the S320F mutation showed a greatly reduced ability to promote microtubule assembly...
  40. ncbi request reprint Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1
    Yong Tian
    Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People s Republic of China
    Biochim Biophys Acta 1577:121-5. 2002
    ..ZNF333 further contains 10 C2H2 zinc finger motifs at the C-terminus...
  41. ncbi request reprint A double RING-H2 domain in RNF32, a gene expressed during sperm formation
    Marijke J van Baren
    Department of Clinical Genetics, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands
    Biochem Biophys Res Commun 292:58-65. 2002
    ..RNF32 is expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids, suggesting a possible role in sperm formation...
  42. 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...
  43. ncbi request reprint Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
    Vincenzo Bonifati
    Genetic Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands
    Science 299:256-9. 2003
    ..Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease...
  44. 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...
  45. ncbi request reprint Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    Ann Neurol 51:253-6. 2002
    ..Assignment of families to either PARK6 or PARK7 might be difficult because of the proximity of the two loci on chromosome 1p...
  46. ncbi request reprint Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22
    Armand Savioz
    Department of Psychiatry, University of Geneva School of Medicine, 1225 Geneva, Switzerland
    Neurobiol Dis 12:46-55. 2003
    ..Altogether, these data indicate principally that the Swiss kindred is unlinked to locus 17q21-22, and that tau is not at the origin of FTD in this family...
  47. ncbi request reprint Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred
    Hongshan Zhao
    Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, WHO Collaboration Center of Community Control for Inherited Diseases, Beijing, People s Republic of China
    Eur J Hum Genet 10:162-6. 2002
    ..85 at theta; = 0 cM) at marker D19S221. Recombination events with markers D19S1165 and D19S929 define the critical region for this postaxial polydactyly locus to a region of 4.3 cM on the genetic map...
  48. ncbi request reprint Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study
    Sonia M Rosso
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Brain 126:2016-22. 2003
    ..The finding of tau mutations in 32% of patients with a positive family history for dementia justifies mutation screening in FTD patients with a positive family history, while tau mutations in non-familiar cases are rare...
  49. ncbi request reprint The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes
    Maria G Macedo
    Department of Human Genetics, Section Medical Genomics, VU University Medical Center, 1081 BT Amsterdam, The Netherlands
    Hum Mol Genet 12:2807-16. 2003
    ..This rapid turnover and the structural changes of DJ-1L166P mutant protein might be crucial in the disease pathogenesis...
  50. ncbi request reprint Clinical features and neuroimaging of PARK7-linked parkinsonism
    Marieke Dekker
    Genetic Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands
    Mov Disord 18:751-7. 2003
    ....
  51. ncbi request reprint Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation
    Stephen Hague
    Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Ann Neurol 54:271-4. 2003
    ..This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ-1 are a rare cause of early-onset PD...
  52. ncbi request reprint Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight
    Norbert Vaessen
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Erasmus Medical Centre Rotterdam, The Netherlands
    Lancet 359:1036-7. 2002
    ..Our data lend support to the hypothesis that genetic variation affecting fetal growth could account for the association between low birthweight and susceptibility to diabetes and cardiovascular disease in later life...
  53. ncbi request reprint CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia
    Patrizia Rizzu
    Department of Human Genetics, Section Medical Genomics, VU University, Amsterdam, The Netherlands
    Am J Med Genet B Neuropsychiatr Genet 141:944-6. 2006
    ..Our results suggest that mutations in CHMP2B are a rare cause of FTD as compared to MAPT mutations...
  54. doi request reprint Screening of the epsilon sarcoglycan gene in Tourette syndrome and obsessive compulsive disorder
    Hilga Katerberg
    Department of Biological Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Psychiatr Genet 18:98. 2008
  55. ncbi request reprint Mutations in TITF-1 are associated with benign hereditary chorea
    Guido J Breedveld
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 11:971-9. 2002
    ..2 Mb harboring the TITF-1 gene, a homeodomain-containing transcription factor essential for the organogenesis of the lung, thyroid and the basal ganglia. Here we report evidence that mutations in TITF-1 are associated with BHC...
  56. ncbi request reprint The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence
    Nitzan Mekel-Bobrov
    Department of Human Genetics, Howard Hughes Medical Institute, University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 16:600-8. 2007
    ....
  57. ncbi request reprint Family-based and case-control studies reveal no association of lipocalin-type prostaglandin D2 synthase with schizophrenia
    Dina Ruano
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Braga, Portugal
    Am J Med Genet B Neuropsychiatr Genet 144:642-6. 2007
    ..In addition, no transmission distortion was observed in an independent parents-offspring sample from the Azorean Islands. Our data do not support the involvement of the PTGDS gene in the etiology of schizophrenia...
  58. pmc Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men
    Zoltan Bochdanovits
    Section Medical Genomics, Department of Clinical Genetics, Vrije Universiteit Medisch Centrum VUMC, Amsterdam, The Netherlands
    PLoS ONE 3:e1593. 2008
    ....
  59. doi request reprint Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects
    Dorret I Boomsma
    Netherlands Twin Register, Department of Biological Psychology, VU University Amsterdam, Amsterdam, Netherlands
    Eur J Hum Genet 16:335-42. 2008
    ..Genome-wide association results are open-access and can be viewed at the dbGAP web portal (http://www.ncbi.nlm.nih.gov). Approved users can download the genotype and phenotype data, which have been made available as of 9 October 2007...
  60. doi request reprint Empirical assessment of the validity of the 'fundamental theorem of the HapMap' in the light of 'cryptic' tagging of multiple susceptibility loci
    Zoltan Bochdanovits
    Section Medical Genomics, Department of Clinical Genetics, VUMC, Amsterdam, The Netherlands
    Eur J Hum Genet 16:525-9. 2008
    ..On the basis of our results, a safe bet is to use a sample that is 10% larger than otherwise deemed necessary...
  61. 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...
  62. ncbi request reprint Benign hereditary chorea: clinical, neuroimaging, and genetic findings
    Muhammad Mahajnah
    Neurogenetic Clinic, Schneider Children s Medical Center of Israel, Petach Tikva, Israel
    J Child Neurol 22:1231-4. 2007
    ..Brain single photon emission computed tomography findings did not seem to correlate with the clinical status of the children...
  63. pmc Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study
    Florencia M Gosso
    Dept of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands
    BMC Med Genet 8:66. 2007
    ..The aim of this study is the identification of functional (non)coding variants underlying cognitive phenotypic variation...
  64. ncbi request reprint Transthyretin: no association between serum levels or gene variants and schizophrenia
    Dina Ruano
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Campus de Gualtar, 4710 057 Braga, Portugal
    J Psychiatr Res 41:667-72. 2007
    ..In addition, serum TTR and RBP levels did not differ between mentally healthy and schizophrenic individuals. In conclusion, our data does not support an involvement of the TTR gene in the pathophysiology of schizophrenia...
  65. ncbi request reprint Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease
    Aida M Bertoli-Avella
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    Mov Disord 18:1240-9. 2003
    ....
  66. ncbi request reprint Familial influence on parkinsonism in a rural area of Turkey (Kizilcaboluk-Denizli): a community-based case-control study
    Fusun Duzcan
    Department of Medical Biology, Pamukkale University, Denizli, Turkey
    Mov Disord 18:799-804. 2003
    ....
  67. ncbi request reprint Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS
    Johannes Prudlo
    Department of Neurology, University Hospital, Homburg Saar, Germany
    Ann Neurol 55:134-8. 2004
    ..1. The breakpoints are assigned to sequences flanked by the markers ATA1H06, D18S462, D21S1915, and D21S1898. These critical regions may contain susceptibility loci for FTD associated with ALS...
  68. ncbi request reprint The PCR suite
    Marijke J van Baren
    Department of Clinical Genetics, Erasmus Medical Center, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Bioinformatics 20:591-3. 2004
    ..It allows the design of primer sets encompassing single nucleotide polymorphisms, all exons of a single gene, all open reading frames in a list of cDNAs or the creation of overlapping PCR products...
  69. 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
    ....
  70. 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...
  71. ncbi request reprint Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics
    Omer T Njajou
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Erasmus Medical Centre, 3000 DR Rotterdam, The Netherlands
    Blood Cells Mol Dis 29:439-43. 2002
    ..The reports of other distinct mutations in SLC11A3 suggest that this gene may be of interest for further etiologic research...
  72. ncbi request reprint Genetics of dizygotic twinning: a feasibility study for a biobank
    Chantal Hoekstra
    Department of Biological Psychology, Vrije Universiteit, Van der Boechorststraat 1, 1081 BT Amsterdam, The Netherlands
    Twin Res 7:556-63. 2004
    ..We conclude that the pilot study demonstrated the feasibility of this protocol to collect good quality of plasma, DNA, RNA and lymphocyte samples by home visits...
  73. ncbi request reprint Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23
    Bert B A de Vries
    Am J Med Genet 111:443-5. 2002
  74. ncbi request reprint Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease
    Marc Meulener
    Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Curr Biol 15:1572-7. 2005
    ..Study of these flies will provide insight into the critical interplay of genetics and environment in PD...
  75. 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...
  76. pmc Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
    Laura A Lettice
    Medical Research Council Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, United Kingdom
    Proc Natl Acad Sci U S A 99:7548-53. 2002
    ..Genetic analysis of Ssq reveals that the Lmbr1 gene is incidental to the phenotype and that the mutation directly interrupts a cis-acting regulator of Shh. This regulator is most likely the target for generating PPD mutations in human...
  77. ncbi request reprint Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies
    Susan Service
    Center for Neurobehavioral Genetics, University of California, Los Angeles, California 90095, USA
    Nat Genet 38:556-60. 2006
    ..Young isolates known to have had relatively few founders show particularly extensive LD with very few holes; these populations offer substantial advantages for genome-wide association mapping...
  78. ncbi request reprint Role of COL4A1 in small-vessel disease and hemorrhagic stroke
    Douglas B Gould
    Howard Hughes Medical Institute, Bar Harbor, ME, USA
    N Engl J Med 354:1489-96. 2006
    ..We concluded that mutation of COL4A1 may cause a spectrum of cerebrovascular phenotypes and that persons with COL4A1 mutations may be predisposed to hemorrhage, especially after environmental stress...
  79. 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...