Research Topics
Genomes and Genes | P HeutinkSummaryAffiliation: Erasmus University Country: The Netherlands Publications
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Publications
Gene finding in genetically isolated populationsPeter 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...- Untangling tau-related dementiaP 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... - Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity aloneR 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... - Familial clustering and genetic risk for dementia in a genetically isolated Dutch populationK 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... - Genetic and clinical analysis of a large Dutch Gilles de la Tourette familyA 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... - X-linked recessive inheritance of radial ray deficiencies in a family with four affected malesR 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... 
Benign hereditary chorea of early onset maps to chromosome 14qB 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...- A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer diseaseA 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... - A clinical-genetic study of Parkinson's disease in a genetically isolated communityM 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... - Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic formsV 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... - High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the NetherlandsP 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... - The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7qP 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... - DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonismV 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... - Clinical and genetic heterogeneity in benign hereditary choreaG J Breedveld
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
Neurology 59:579-84. 2002..CONCLUSIONS: BHC is a clinically and genetically heterogeneous disorder, with one well-defined clinical syndrome mapping to chromosome 14q... - A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qterP 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... - Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11Y 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... - Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interactionH C Heus
Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
Mamm Genome 12:77-9. 2001 - A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarctionN 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... - A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36H 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... - Linkage disequilibrium in young genetically isolated Dutch populationYurii 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... - Chasing genes in Alzheimer's and Parkinson's diseaseAida 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... - Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's diseaseVincenzo 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... - DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementiaPatrizia 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... - A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the NetherlandsYurii 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... - An English kindred with a novel recessive tauopathy and respiratory failureDavid 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... - Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315REsther 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... - Association of the gene encoding neurogranin with schizophrenia in malesDina 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... - Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17John 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... - The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivoJohn 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... - DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factorNan 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... - Progranulin mutations in Dutch familial frontotemporal lobar degenerationIraad 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... - Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the NetherlandsAida 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... - A longitudinal twin study on IQ, executive functioning, and attention problems during childhood and early adolescenceTinca 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... - Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephalyDouglas 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... - A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch populationFan 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... - Novel parkin mutations detected in patients with early-onset Parkinson's diseaseAida 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... - Neonatal porencephaly and adult stroke related to mutations in collagen IV A1Marjo 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... - Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutationsSonia 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... - A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's diseaseSonia 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... - Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1Yong 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... - A double RING-H2 domain in RNF32, a gene expressed during sperm formationMarijke 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... - A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the NetherlandsNorbert 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... - Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonismVincenzo 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... - 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... - Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent datasetVincenzo 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... - Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22Armand 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... - Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindredHongshan 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... - Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based studySonia 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... - The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexesMaria 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... - Clinical features and neuroimaging of PARK7-linked parkinsonismMarieke Dekker
Genetic Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands
Mov Disord 18:751-7. 2003.... - Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutationStephen 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... - Association between genetic variation in the gene for insulin-like growth factor-I and low birthweightNorbert 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... - CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementiaPatrizia 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... - Screening of the epsilon sarcoglycan gene in Tourette syndrome and obsessive compulsive disorderHilga Katerberg
Department of Biological Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Psychiatr Genet 18:98. 2008 - Mutations in TITF-1 are associated with benign hereditary choreaGuido 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... - The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligenceNitzan Mekel-Bobrov
Department of Human Genetics, Howard Hughes Medical Institute, University of Chicago, Chicago, IL 60637, USA
Hum Mol Genet 16:600-8. 2007.... - Family-based and case-control studies reveal no association of lipocalin-type prostaglandin D2 synthase with schizophreniaDina 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... - Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and menZoltan Bochdanovits
Section Medical Genomics, Department of Clinical Genetics, Vrije Universiteit Medisch Centrum VUMC, Amsterdam, The Netherlands
PLoS ONE 3:e1593. 2008.... 
Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projectsDorret 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...- Empirical assessment of the validity of the 'fundamental theorem of the HapMap' in the light of 'cryptic' tagging of multiple susceptibility lociZoltan 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... - A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6pMarja 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... - Benign hereditary chorea: clinical, neuroimaging, and genetic findingsMuhammad 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... - Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression studyFlorencia 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... - Transthyretin: no association between serum levels or gene variants and schizophreniaDina 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... - Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's diseaseAida M Bertoli-Avella
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Mov Disord 18:1240-9. 2003.... - Familial influence on parkinsonism in a rural area of Turkey (Kizilcaboluk-Denizli): a community-based case-control studyFusun Duzcan
Department of Medical Biology, Pamukkale University, Denizli, Turkey
Mov Disord 18:799-804. 2003.... - Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALSJohannes 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... - The PCR suiteMarijke 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... - CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorderAnnemieke J M H Verkerk
Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
Genomics 82:1-9. 2003.... - A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34Robert 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... - Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristicsOmer 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... - Genetics of dizygotic twinning: a feasibility study for a biobankChantal 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... - Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23Bert B A de Vries
Am J Med Genet 111:443-5. 2002 - Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's diseaseMarc 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... - Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotypeEsther 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... - Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactylyLaura 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... - Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studiesSusan 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... - Role of COL4A1 in small-vessel disease and hemorrhagic strokeDouglas 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... - Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspringRobert 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...