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Ben Oostra

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Tianna Zhao; Ping-Pin Zheng; Renate K Hukema; Johan M Kros; Ben A Oostra; Lies-Anne Severijnen; Marcel van der Weiden; Rob Willemsen; Vincenzo Bonifati
FBXO7 Immunoreactivity in α-Synuclein-Containing Inclusions in Parkinson Disease and Multiple System Atrophy.
Ayşe Demirkan; Ulf Gyllensten; Aaron Isaacs; Gerhard Liebisch; Ben A Oostra; Peter P Pramstaller; Igor Rudan; Gerd Schmitz; Maksim Struchalin; Peter Ugocsai; Harry Campbell; James F Wilson; Cornelia M van Duijn
Plasma phosphatidylcholine and sphingomyelin concentrations are associated with depression and anxiety symptoms in a Dutch family-based lipidomics study.
Anine H Stam; Arn Mjm van den Maagdenberg; Cornelia M van Duijn; Claudia M Weller; Yurii S Aulchenko; Michel D Ferrari; Rune R Frants; A Cecile Jw Janssens; Ben A Oostra; M Terwindt Gisela
Migraine is not associated with enhanced atherosclerosis.

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All Publications

2013: Tianna Zhao; Ping-Pin Zheng; Renate K Hukema; Johan M Kros; Ben A Oostra; Lies-Anne Severijnen; Marcel van der Weiden; Rob Willemsen; Vincenzo Bonifati
FBXO7 Immunoreactivity in α-Synuclein-Containing Inclusions in Parkinson Disease and Multiple System Atrophy.
Journal of neuropathology and experimental neurology 2013;72(6):482-8.
2013: Ayşe Demirkan; Ulf Gyllensten; Aaron Isaacs; Gerhard Liebisch; Ben A Oostra; Peter P Pramstaller; Igor Rudan; Gerd Schmitz; Maksim Struchalin; Peter Ugocsai; Harry Campbell; James F Wilson; Cornelia M van Duijn
Plasma phosphatidylcholine and sphingomyelin concentrations are associated with depression and anxiety symptoms in a Dutch family-based lipidomics study.
Journal of psychiatric research 2013;47(3):357-62.
2013: Anine H Stam; Arn Mjm van den Maagdenberg; Cornelia M van Duijn; Claudia M Weller; Yurii S Aulchenko; Michel D Ferrari; Rune R Frants; A Cecile Jw Janssens; Ben A Oostra; M Terwindt Gisela
Migraine is not associated with enhanced atherosclerosis.
Cephalalgia : an international journal of headache 2013;33(4):228-35.
2013: Ilse Gantois; Fabrizio Gasparini; Baltazar Gomez-Mancilla; Ben A Oostra; Tine Pooters; Andreea S Pop; Ronald A M Buijsen; Celine E F de Esch; Rudi D'Hooge; Rob Willemsen
Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice.
Behavioural brain research 2013;239():72-9.
2013: Joyce M G Florisson; Jean Pierre Frijns; Jeannette A M Hoogeboom; Linda Koster; Irene M J Mathijssen; Ben A Oostra; Pino J Poddighe; SM Swagemakers; Peter J van der Spek; Annelies de Klein; Bert B A de Vries; Belinda Dumee; Bert Eussen; Annemieke J M H Verkerk
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
American journal of medical genetics. Part A 2013;161A(2):244-53.
2012: Carla A Ibrahim-Verbaas; M Arfan Ikram; Aaron Isaacs; Ben A Oostra; Maaike Schuur; Najaf Amin; Yurii Aulchenko; Tatiana I Axenovich; Monique M B Breteler; Antonia M W Coppus; John C van Swieten; Marcel M Verbeek; Irina V Zorkoltseva; Cornelia M van Duijn
Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Aβ-40 levels to presenilin 2.
Human genetics 2012;131(12):1869-76.
2012: K L Kreft; Jon D Laman; Ben A Oostra; Marjan van Meurs; E Verbraak; Annet F Wierenga-Wolf; Rogier Q Hintzen
Decreased systemic IL-7 and soluble IL-7Rα in multiple sclerosis patients.
Genes and immunity 2012;13(7):587-92.
2012: N Amin; Yurii Aulchenko; Tatiana I Axenovich; E S Gusareva; Aaron Isaacs; A C J W Janssens; A V Kirichenko; Ben A Oostra; M Schuur; Irina V Zorkoltseva; C.M. Duijn
A genome-wide linkage study of individuals with high scores on NEO personality traits.
Molecular psychiatry 2012;17(10):1031-41.
2012: Antonia M W Coppus; A Cecile J W Janssens; Ben A Oostra; Maaike Schuur; Marcel M Verbeek; Jeanet Vergeer; Cornelia M van Duijn
Plasma β amyloid and the risk of Alzheimer's disease in Down syndrome.
Neurobiology of aging 2012;33(9):1988-94.
2012: Vanessa M French; Ingrid M E Frohn-Mulder; Wim A Helbing; Elodie Jadot; Zhengxin Jiang; Hanne Meijers-Heijboer; Edwin J Mientjes; Hossein Najmabadi; Ben A Oostra; Zohreh Rahimi; Christan Rohe; Jolien Roos-Hesselink; Robert Schot; Lies-Anne Severijnen; SM Swagemakers; Ingrid M B H van de Laar; Marianne van Tienhoven; Hanka Venselaar; Annemieke Verkerk; Guangliang Wang; Marja W Wessels; Rob Willemsen; Guido Breedveld; Bianca de Graaf; Esther de Graaff; Koen Devriendt; Jeffrey D Amack; John W Belmont; Aida M Bertoli Avella
NPHP4 variants are associated with pleiotropic heart malformations.
Circulation research 2012;110(12):1564-74.
2012: Ekaterina Yonova-Doing; Masharip Atadzhanov; Guido J Breedveld; Paul Kelly; Sheila T S Musonda; Ben A Oostra; Marialuisa Quadri; Nyambura Shawa; Erik J Simons; Vincenzo Bonifati
Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease.
Parkinsonism & related disorders 2012;18(5):567-71.
2012: Kenneth Y Kwan; Mandy M S Lam; Ben A Oostra; Mihovil Pletikos; Pasko Rakic; Mladen-Roko Rašin; David H Rowitch; Michael L Schwartz; Jon I Arellano; Daniel W Chan; Jie-Guang Chen; Umber Dube; Sofia Fertuzinhos; Marija Heffer; Eric J Huang; Matthew B Johnson; Milos Judas; Ivica Kostović; Sungbo Shim; André M M Sousa; Lana Vasung; Rob Willemsen; Nenad Sestan
Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex.
Cell 2012;149(4):899-911.
2012: Marialuisa Quadri; Fabrizio Rasi; Antioco Sanna; Lies-Anne Severijnen; Bart P C van de Warrenburg; Rob Willemsen; Tianna Zhao; Carla Battisti; Guido J Breedveld; Giovanni Cossu; Cathérine Delnooz; Lara Di Toro Mammarella; Antonio Federico; Peng Lu; Andrea Mignarri; Lucia Monti; Ben A Oostra; Francesca Punzo; Vincenzo Bonifati
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.
American journal of human genetics 2012;90(3):467-77.
2012: Andrea C Gasten; Albert Hofman; M Kamran Ikram; Nomdo M Jansonius; Caroline C W Klaver; Hans G Lemij; Ben A Oostra; Wishal D Ramdas; Fernando Rivadeneira; Andre G Uitterlinden; Yurii S Aulchenko; Linda Broer; Paulus T V M de Jong; Leonieke M E van Koolwijk; Johannes R Vingerling; Roger C Wolfs; Cornelia M van Duijn
A genetic epidemiologic study of candidate genes involved in the optic nerve head morphology.
Investigative ophthalmology & visual science 2012;53(3):1485-91.
2012: Karim L Kreft; Jon D Laman; Ben A Oostra; Marjan van Meurs; Evert Verbraak; Annet F Wierenga-Wolf; Rogier Q Hintzen
The IL-7Rα pathway is quantitatively and functionally altered in CD8 T cells in multiple sclerosis.
Journal of immunology (Baltimore, Md. : 1950) 2012;188(4):1874-83.
2012: Tianna Zhao; Herma Zondervan-van der Linde; Ben A Oostra; Lies-Anne Severijnen; Rob Willemsen; Vincenzo Bonifati
Dopaminergic neuronal loss and dopamine-dependent locomotor defects in Fbxo7-deficient zebrafish.
PloS one 2012;7(11):e48911.
2012: A Cecile J W Janssens; Muin J Khoury; Symone B Detmar; Marinus J C Eijkemans; Lidewij Henneman; Nino Mushkudiani; Ben A Oostra; Ewout W Steyerberg; Cornelia M van Duijn; Johan P Mackenbach
Accuracy of self-reported family history is strongly influenced by the accuracy of self-reported personal health status of relatives.
Journal of clinical epidemiology 2012;65(1):82-9.
2011: Wishal D Ramdas; Fernando Rivadeneira; André G Uitterlinden; Leonieke M E van Koolwijk; Johannes Vingerling; Roger Wolfs; Najaf Amin; Angela J Cree; Paulus T V M de Jong; Sarah Ennis; Jane Gibson; Albert Hofman; Nomdo M Jansonius; A Cecile J W Janssens; James F Kirwan; Caroline C W Klaver; Hans G Lemij; Andrew J Lotery; Ben A Oostra; Cornelia M van Duijn
Clinical implications of old and new genes for open-angle glaucoma.
Ophthalmology 2011;118(12):2389-97.
2011: M Schuur; John C van Swieten; J M Vergeer-Drop; M M B Breteler; Albert Hofman; M Arfan Ikram; Aaron Isaacs; Ben A Oostra; C.M. Duijn
Cathepsin D gene and the risk of Alzheimer's disease: a population-based study and meta-analysis.
Neurobiology of aging 2011;32(9):1607-14.
2011: Marialuisa Quadri; Valeria Saddi; Erik J Simons; Anna Ticca; Giovanni Cossu; Maurizio Melis; Daniela Murgia; Ben A Oostra; Vincenzo Bonifati
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.
Neurogenetics 2011;12(3):203-9.
2011: Chiara Criscuolo; Vincenzo Bonifati; Guido J Breedveld; Anna De Rosa; Alessandro Filla; Anna Guacci; Ben A Oostra; Silvio Peluso; Erik J Simons; Giampiero Volpe; Giuseppe De Michele
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
Movement disorders : official journal of the Movement Disorder Society 2011;26(9):1733-6.
2011: Lannie Ligthart; Grant W Montgomery; Dale R Nyholt; Ben A Oostra; Brenda W J H Penninx; Johannes H Smit; Albert V Smith; Gisela M Terwindt; André G Uitterlinden; Arn M J M van den Maagdenberg; Cornelia M van Duijn; Gonneke Willemsen; Frans G Zitman; Monique Breteler; Eco J C de Geus; Marleen H M de Moor; Boukje de Vries; Michel D Ferrari; Vilmundur Gudnason; Albert Hofman; Jouke-Jan Hottenga; M Arfan Ikram; A Cecile J W Janssens; V Mathijs Kattenberg; Stephany C Koelewijn; Lenore J Launer; Najaf Amin; Yurii S Aulchenko; Dorret I Boomsma
Meta-analysis of genome-wide association for migraine in six population-based European cohorts.
European journal of human genetics : EJHG 2011;19(8):901-7.
2011: A Demirkan; K Hek; Albert Hofman; Jouke-Jan Hottenga; A C J W Janssens; N Amin; Y S Aulchenko; Dorret I Boomsma; Eco J C De Geus; Willem A Nolen; Ben A Oostra; B W J H Penninx; P F Sullivan; H Tiemeier; A G Uitterlinden; C.M. Duijn; R van Dyck; Gonneke Willemsen; N R Wray; F G Zitman; Christel M Middeldorp
Genetic risk profiles for depression and anxiety in adult and elderly cohorts.
Molecular psychiatry 2011;16(7):773-83.
2011: Josien Levenga; Shigemi Hayashi; Femke M S de Vrij; S K E Koekkoek; Herma C van der Linde; Ingeborg M Nieuwenhuizen; Cheng Song; Ronald A M Buijsen; Andreea S Pop; Baltazar Gomezmancilla; David L Nelson; Rob Willemsen; Fabrizio Gasparini; Ben A Oostra
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome.
Neurobiology of disease 2011;42(3):311-7.
2011: Weixiang Guo; Andrea M Allan; Ruiting Zong; Li Zhang; Eric B Johnson; Eric G Schaller; Adeline C Murthy; Samantha L Goggin; Amelia J Eisch; Ben A Oostra; David L Nelson; Peng Jin; Xinyu Zhao
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning.
Nature medicine 2011;17(5):559-65.
2011: Josien Levenga; Femke M S de Vrij; Ronald A M Buijsen; Tracy Li; Ingeborg M Nieuwenhuizen; Andreea Pop; Ben A Oostra; Rob Willemsen
Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice.
Neurobiology of learning and memory 2011;95(4):467-72.
2011: Wishal D Ramdas; Najaf Amin; Leonieke M E van Koolwijk; A Cecile J W Janssens; Ayse Demirkan; Paulus T V M de Jong; Yurii Aulchenko; Roger Wolfs; Albert Hofman; Fernando Rivadeneira; Andre G Uitterlinden; Ben A Oostra; Hans G Lemij; Caroline C W Klaver; Johannes Vingerling; Nomdo M Jansonius; Cornelia M van Duijn
Genetic architecture of open angle glaucoma and related determinants.
Journal of medical genetics 2011;48(3):190-6.
2011: Sophie Scotto-Lomassese; Antoine Nissant; Tatiana Mota; Marie Néant-Féry; Ben A Oostra; Charles A Greer; Pierre-Marie Lledo; Alain Trembleau; Isabelle Caillé
Fragile X mental retardation protein regulates new neuron differentiation in the adult olfactory bulb.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2011;31(6):2205-15.
2011: Ingrid M B H van de Laar; Rogier A Oldenburg; Gerard Pals; Jolien Roos-Hesselink; Bianca de Graaf; Judith M A Verhagen; Yvonne M Hoedemaekers; Rob Willemsen; Lies-Anne Severijnen; Hanka Venselaar; Gert Vriend; Peter M Pattynama; Margriet Collée; Danielle Majoor-Krakauer; Don Poldermans; Ingrid M E Frohn-Mulder; Dimitra Micha; Janneke Timmermans; Yvonne Hilhorst-Hofstee; Sita M Bierma-Zeinstra; Patrick J Willems; Johan M Kros; Edwin H G Oei; Ben A Oostra; Marja W Wessels; Aida M Bertoli Avella
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
Nature genetics 2011;43(2):121-6.
2011: Lucio Santoro; Guido J Breedveld; Fiore Manganelli; Rosa Iodice; Chiara Pisciotta; Maria Nolano; Francesca Punzo; Mario Quarantelli; Sabina Pappatà; Alessio Di Fonzo; Ben A Oostra; Vincenzo Bonifati
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
Neurogenetics 2011;12(1):33-9.
2011: Francesca Punzo; Luisa Ronzoni; Saverio Scianguetta; Aida M Bertoli Avella; Maria D Cappellini; Maddalena Casale; Fulvio Della Ragione; Gianluca Forni; Ben A Oostra; Silverio Perrotta
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Orphanet journal of rare diseases 2011;6():89.
2011: Linda Broer; Anita L DeStefano; Annette L Fitzpatrick; Albert Hofman; M Arfan Ikram; Fan Liu; William T Longstreth; Ben A Oostra; Fernando Rivadeneira; Maaike Schuur; Sudha Seshadri; Andre G Uitterlinden; Yurii Aulchenko; Alexa Beiser; Joshua C Bis; Monique Breteler; Cornelia M van Duijn
Association of HSP70 and its co-chaperones with Alzheimer's disease.
Journal of Alzheimer's disease : JAD 2011;25(1):93-102.
2011: Tianna Zhao; Esther de Graaff; Guido J Breedveld; Agnese Loda; Lies-Anne Severijnen; Cokkie H Wouters; Frans W Verheijen; Marieke C J Dekker; Pasquale Montagna; Rob Willemsen; Ben A Oostra; Vincenzo Bonifati
Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).
PloS one 2011;6(2):e16983.
2011: M Schuur; John C van Swieten; S Schol-Gelok; M Arfan Ikram; Meike W Vernooij; Fan Liu; Aaron Isaacs; R de Boer; Inge de Koning; Wiro J Niessen; Henri A Vrooman; Ben A Oostra; Aad van Der Lugt; M M B Breteler; C.M. Duijn
Genetic risk factors for cerebral small-vessel disease in hypertensive patients from a genetically isolated population.
Journal of neurology, neurosurgery, and psychiatry 2011;82(1):41-4.
2010: Josien Levenga; Femke M S de Vrij; Ben A Oostra; Rob Willemsen
Potential therapeutic interventions for fragile X syndrome.
Trends in molecular medicine 2010;16(11):516-27.
2010: Guido J Breedveld; Giovanni Fabbrini; Ben A Oostra; Alfredo Berardelli; Vincenzo Bonifati
Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred.
Neurogenetics 2010;11(4):417-23.
2010: Fan Liu; Luba M Pardo; Maaike Schuur; Pascual Sanchez-Juan; Aaron Isaacs; Kristel Sleegers; Inge de Koning; Irina V Zorkoltseva; Tatiana I Axenovich; Jacqueline C M Witteman; A Cecile J W Janssens; John C van Swieten; Yurii Aulchenko; Ben A Oostra; Cornelia M van Duijn
The apolipoprotein E gene and its age-specific effects on cognitive function.
Neurobiology of aging 2010;31(10):1831-3.
2010: F Punzo; Edwin J Mientjes; C F Rohe; S Scianguetta; G Amendola; Ben A Oostra; Aida M Bertoli Avella; S Perrotta
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.
Journal of thrombosis and haemostasis : JTH 2010;8(9):2085-7.
2010: Antonetta M G Sas; Alessio Di Fonzo; Stef L M Bakker; Erik J Simons; Ben A Oostra; Anneke J Maat-Kievit; A J W Boon; Vincenzo Bonifati
Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred.
Movement disorders : official journal of the Movement Disorder Society 2010;25(11):1715-22.
2010: M Schuur; Peter Henneman; John C van Swieten; M Carola Zillikens; Inge de Koning; A C J W Janssens; J C M Witteman; Yurii Aulchenko; Rune R Frants; Ben A Oostra; K Willems van Dijk; C.M. Duijn
Insulin-resistance and metabolic syndrome are related to executive function in women in a large family-based study.
European journal of epidemiology 2010;25(8):561-8.
2010: Suzanne Schol-Gelok; A Cecile J W Janssens; Henning Tiemeier; Fan Liu; Sandra Lopez-Leon; Irina V Zorkoltseva; Tatiana I Axenovich; John C van Swieten; André G Uitterlinden; Albert Hofman; Yurii Aulchenko; Ben A Oostra; Cornelia M van Duijn
A genome-wide screen for depression in two independent Dutch populations.
Biological psychiatry 2010;68(2):187-96.
2010: Wishal D Ramdas; Leonieke M E van Koolwijk; M Kamran Ikram; Nomdo M Jansonius; Paulus T V M de Jong; Arthur A B Bergen; Aaron Isaacs; Najaf Amin; Yurii Aulchenko; Roger Wolfs; Albert Hofman; Fernando Rivadeneira; Ben A Oostra; Andre G Uitterlinden; Pirro Hysi; Christopher J Hammond; Hans G Lemij; Johannes Vingerling; Caroline C W Klaver; Cornelia M van Duijn
A genome-wide association study of optic disc parameters.
PLoS genetics 2010;6(6):e1000978.
2010: Sandra López León; Yurii S Aulchenko; Henning Tiemeier; Ben A Oostra; Cornelia M van Duijn; A Cecile J W Janssens
Shared genetic factors in the co-occurrence of symptoms of depression and cardiovascular risk factors.
Journal of affective disorders 2010;122(3):247-52.
2010: Peter Henneman; Yurii Aulchenko; Rune R Frants; Irina V Zorkoltseva; M Carola Zillikens; Marijke Frolich; Ben A Oostra; Ko Willems van Dijk; Cornelia M van Duijn
Genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome-related traits.
Diabetes care 2010;33(4):908-13.
2010: Peter Henneman; A C J W Janssens; M C Zillikens; Marijke Frolich; Rune R Frants; Ben A Oostra; C.M. Duijn; K Willems van Dijk
Menopause impacts the relation of plasma adiponectin levels with the metabolic syndrome.
Journal of internal medicine 2010;267(4):402-9.
2010: Asa Johansson; Fabio Marroni; Caroline Hayward; Christopher S Franklin; Anatoly V Kirichenko; I Jonasson; Andrew A Hicks; Veronique Vitart; Aaron Isaacs; Tatiana Axenovich; Susan Campbell; Jamie Floyd; Nick Hastie; Sara A Knott; Gordan Lauc; Irene Pichler; Kresimir Rotim; Sarah H Wild; Irina V Zorkoltseva; James F Wilson; Igor Rudan; Harry Campbell; Cristian Pattaro; Peter P Pramstaller; Ben A Oostra; Alan F Wright; Cornelia M van Duijn; Yurii S Aulchenko; Ulf Gyllensten
Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.
Obesity (Silver Spring, Md.) 2010;18(4):803-8.
2010: Steven J Collins; Maaike Schuur; Alison Boyd; Victoria Lewis; Genevieve M Klug; Amelia McGlade; Andrew van Oosterhout; Guido Breedveld; Ben A Oostra; Colin L Masters; Cornelia M Van Duijn
No evidence for prion protein gene locus multiplication in Creutzfeldt-Jakob disease.
Neuroscience letters 2010;472(1):16-8.
2010: M Carola Zillikens; André G Uitterlinden; Johannes P T M van Leeuwen; Anne L Berends; Peter Henneman; Ko Willems van Dijk; Ben A Oostra; Cornelia M van Duijn; Huibert A P Pols; Fernando Rivadeneira
The role of body mass index, insulin, and adiponectin in the relation between fat distribution and bone mineral density.
Calcified tissue international 2010;86(2):116-25.
2010: Rinus Vegt; Aida M Bertoli Avella; Joke H M Tulen; Bianca de Graaf; Annemieke J M H Verkerk; Jeroen Vervoort; Carla M Twigt; anneke maat-kievit; Ruud van Tuijl; Marieke van der Lijn; Michiel W Hengeveld; Ben A Oostra
Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder.
European journal of human genetics : EJHG 2010;18(2):206-11.
2010: Anine H Stam; Boukje De Vries; A C J W Janssens; Kaate R J Vanmolkot; Yurii Aulchenko; Peter Henneman; Ben A Oostra; Rune R Frants; Arn van den Maagdenberg; Michel D Ferrari; C.M. Duijn; Gisela M Terwindt
Shared genetic factors in migraine and depression: evidence from a genetic isolate.
Neurology 2010;74(4):288-94.
2010: Wilmar Igl; Asa Johansson; James F Wilson; Sarah H Wild; Ozren Polasek; Caroline Hayward; Veronique Vitart; Nicholas Hastie; Pavao Rudan; Carsten Gnewuch; Gerd Schmitz; Thomas Meitinger; Peter P Pramstaller; Andrew A Hicks; Ben A Oostra; Cornelia M van Duijn; Igor Rudan; Alan Wright; Harry Campbell; Ulf Gyllensten
Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.
PLoS genetics 2010;6(1):e1000798.
2010: Slavica Pecioska; M Carola Zillikens; Peter Henneman; Pieter J Snijders; Ben A Oostra; Cornelia M van Duijn; Yurii Aulchenko
Association between type 2 diabetes loci and measures of fatness.
PloS one 2010;5(1):e8541.
2009: M Carola Zillikens; Joyce B J van Meurs; Fernando Rivadeneira; Najaf Amin; Albert Hofman; Ben A Oostra; Eric J G Sijbrands; Jacqueline C M Witteman; Huibert A P Pols; Cornelia M van Duijn; André G Uitterlinden
SIRT1 genetic variation is related to BMI and risk of obesity.
Diabetes 2009;58(12):2828-34.
2009: Ilse A Hoppenbrouwers; Yurii Aulchenko; A Cecile Janssens; Sreeram V Ramagopalan; Linda Broer; Manfred Kayser; George C Ebers; Ben A Oostra; Cornelia M van Duijn; Rogier Q Hintzen
Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis.
Journal of human genetics 2009;54(11):676-80.
2009: Ingrid Van de Laar; Marja Wessels; Ingrid Frohn-Mulder; Michiel Dalinghaus; Bianca de Graaf; Marianne van Tienhoven; Paul van der Moer; Margreet Husen-Ebbinge; Maarten H Lequin; Dennis Dooijes; Ronald R de Krijger; Ben A Oostra; Aida M Bertoli Avella
First locus for primary pulmonary vein stenosis maps to chromosome 2q.
European heart journal 2009;30(20):2485-92.
2009: Leonieke M E van Koolwijk; Dominiek D G Despriet; Cornelia M Van Duijn; Ben A Oostra; John C van Swieten; Inge de Koning; Caroline C W Klaver; Hans G Lemij
Association of cognitive functioning with retinal nerve fiber layer thickness.
Investigative ophthalmology & visual science 2009;50(10):4576-80.
2009: Esther Brusse; Danielle Majoor-Krakauer; Bianca M de Graaf; Gerhard H Visser; SM Swagemakers; Agnita J W Boon; Ben A Oostra; Aida M Bertoli Avella
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
Neurogenetics 2009;10(4):289-97.
2009: Karol Estrada; Michael Krawczak; Stefan Schreiber; Kate van Duijn; Lisette Stolk; Joyce B J van Meurs; Fan Liu; Brenda W J H Penninx; Jan H Smit; Nicole Vogelzangs; Jouke-Jan Hottenga; Gonneke Willemsen; Eco J C De Geus; Mattias Lorentzon; Huberta von Eller-Eberstein; Paul Lips; Natascha Schoor; Victor Pop; Jules de Keijzer; Albert Hofman; Yurii Aulchenko; Ben A Oostra; Claes Ohlsson; Dorret I Boomsma; André G Uitterlinden; C.M. Duijn; Fernando Rivadeneira; Manfred Kayser
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
Human molecular genetics 2009;18(18):3516-24.
2009: J R Brouwer; R Willemsen; Ben A Oostra
The FMR1 gene and fragile X-associated tremor/ataxia syndrome.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(6):782-98.
2009: Tatiana I Axenovich; Irina V Zorkoltseva; N M Belonogova; M V Struchalin; A V Kirichenko; M Kayser; Ben A Oostra; C.M. Duijn; Yurii Aulchenko
Linkage analysis of adult height in a large pedigree from a Dutch genetically isolated population.
Human genetics 2009;126(3):457-71.
2009: Fabio Marroni; Arne Pfeufer; Yurii S Aulchenko; Christopher S Franklin; Aaron Isaacs; Irene Pichler; Sarah H Wild; Ben A Oostra; Alan F Wright; Harry Campbell; Jacqueline C Witteman; Stefan Kääb; Andrew A Hicks; Ulf Gyllensten; Igor Rudan; Thomas Meitinger; Cristian Pattaro; Cornelia M van Duijn; James F Wilson; Peter P Pramstaller
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
Circulation. Cardiovascular genetics 2009;2(4):322-8.
2009: Sandra Van't Padje; Bill Chaudhry; Lies-Anne Severijnen; Herma C van der Linde; Edwin J Mientjes; Ben A Oostra; Rob Willemsen
Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish.
The Journal of experimental biology 2009;212(Pt 16):2564-70.
2009: Josien Levenga; Ronald A M Buijsen; Maria Rifé; Hervé Moine; David L Nelson; Ben A Oostra; Rob Willemsen; Femke De Vrij
Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons.
Neurobiology of disease 2009;35(2):241-50.
2009: Esther J M van der Vegt; Ben A Oostra; Alejandro Arias-Vásquez; Jan van der Ende; Frank C Verhulst; Henning Tiemeier
High activity of monoamine oxidase A is associated with externalizing behaviour in maltreated and nonmaltreated adoptees.
Psychiatric genetics 2009;19(4):209-11.
2009: Cristian Pattaro; Yurii S Aulchenko; Aaron Isaacs; Veronique Vitart; Caroline Hayward; Christopher S Franklin; Ozren Polasek; Ivana Kolcic; Zrinka Biloglav; Susan Campbell; Nicholas D Hastie; Gordan Lauc; Thomas Meitinger; Ben A Oostra; Ulf Gyllensten; James F Wilson; Irene Pichler; Andrew A Hicks; Harry Campbell; Alan F Wright; Igor Rudan; Cornelia M van Duijn; Peter Riegler; Fabio Marroni; Peter P Pramstaller
Genome-wide linkage analysis of serum creatinine in three isolated European populations.
Kidney international 2009;76(3):297-306.
2009: Yurii Aulchenko; Maksim V Struchalin; Nadezhda M Belonogova; Tatiana I Axenovich; Michael N Weedon; Albert Hofman; Andre G Uitterlinden; Manfred Kayser; Ben A Oostra; C.M. Duijn; A Cecile J W Janssens; Pavel M Borodin
Predicting human height by Victorian and genomic methods.
European journal of human genetics : EJHG 2009;17(8):1070-5.
2009: Vera Hashem; Jocelyn N Galloway; Mayra Mori; Rob Willemsen; Ben A Oostra; Richard Paylor; David L Nelson
Ectopic expression of CGG containing mRNA is neurotoxic in mammals.
Human molecular genetics 2009;18(13):2443-51.
2009: Najaf Amin; Yurii Aulchenko; Marieke C Dekker; Robert F Ferdinand; Alwin van Spreeken; Alfons H Temmink; Frank C Verhulst; Ben A Oostra; C.M. Duijn
Suggestive linkage of ADHD to chromosome 18q22 in a young genetically isolated Dutch population.
European journal of human genetics : EJHG 2009;17(7):958-66.
2009: Ben A Oostra; Rob Willemsen
FMR1: a gene with three faces.
Biochimica et biophysica acta 2009;1790(6):467-77.
2009: M Arfan Ikram; Fan Liu; Ben A Oostra; Albert Hofman; C.M. Duijn; Monique Breteler
The GAB2 gene and the risk of Alzheimer's disease: replication and meta-analysis.
Biological psychiatry 2009;65(11):995-9.
2009: A Cecile J W Janssens; Angela M González-Zuloeta Ladd; Sandra López-Léon; John Ioannidis; Ben A Oostra; Muin J Khoury; C.M. Duijn
An empirical comparison of meta-analyses of published gene-disease associations versus consortium analyses.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(3):153-62.
2009: Dominiek D G Despriet; C.M. Duijn; Ben A Oostra; André G Uitterlinden; Albert Hofman; Alan F Wright; Jacoline B ten Brink; Arne Bakker; Paulus T V M de Jong; Johannes Vingerling; Arthur A B Bergen; Caroline C W Klaver
Complement component C3 and risk of age-related macular degeneration.
Ophthalmology 2009;116(3):474-480.e2.
2009: Yair Pilpel; Alexander Kolleker; Sven Berberich; Melanie Ginger; Andreas Frick; Edwin Mientjes; Ben A Oostra; Peter H Seeburg
Synaptic ionotropic glutamate receptors and plasticity are developmentally altered in the CA1 field of Fmr1 knockout mice.
The Journal of physiology 2009;587(Pt 4):787-804.
2009: A L Berends; M C Zillikens; Christianne J M De Groot; Fernando Rivadeneira; Ben A Oostra; C.M. Duijn; E A P Steegers
Body composition by dual-energy X-ray absorptiometry in women with previous pre-eclampsia or small-for-gestational-age offspring.
BJOG : an international journal of obstetrics and gynaecology 2009;116(3):442-51.
2009: Anna Savoia; Patrizia Noris; Silverio Perrotta; Francesca Punzo; Daniela De Rocco; Ben A Oostra; Carlo L Balduini
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin.
Platelets 2009;20(1):72-3.
2009: Wing Chi Choy; Sandra López León; Yurii Aulchenko; Johan P Mackenbach; Ben A Oostra; C.M. Duijn; A Cecile J W Janssens
Role of shared genetic and environmental factors in symptoms of depression and body composition.
Psychiatric genetics 2009;19(1):32-8.
2009: A Di Fonzo; M C J Dekker; Pasquale Montagna; Agostino Baruzzi; E H Yonova; L Correia Guedes; A Szczerbinska; T Zhao; L O M Dubbel-Hulsman; C H Wouters; Esther de Graaff; W J G Oyen; Erik J Simons; Guido J Breedveld; Ben A Oostra; Martin Horstink; Vincenzo Bonifati
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.
Neurology 2009;72(3):240-5.
2009: Marjo J den Broeder; Herma van der Linde; Judith R Brouwer; Ben A Oostra; Rob Willemsen; René F Ketting
Generation and characterization of FMR1 knockout zebrafish.
PloS one 2009;4(11):e7910.
2009: Elisabeth M Lodder; Bert H J Eussen; Daniëlla A C M van Hassel; A J M Hoogeboom; Pino J Poddighe; J Henk Coert; Ben A Oostra; Annelies de Klein; Esther de Graaff
Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2009;17(6):737-44.
2009: Fan Liu; M Arfan Ikram; A Cecile J W Janssens; Maaike Schuur; Inge de Koning; Aaron Isaacs; Maksim Struchalin; Andre G Uitterlinden; Johan T den Dunnen; Kristel Sleegers; Karolien Bettens; Christine Van Broeckhoven; John C van Swieten; Albert Hofman; Ben A Oostra; Yurii Aulchenko; Monique Breteler; Cornelia M van Duijn
A study of the SORL1 gene in Alzheimer's disease and cognitive function.
Journal of Alzheimer's disease : JAD 2009;18(1):51-64.
2009: Sandra López León; Wing Chi Choy; Yurii Aulchenko; Stephan J Claes; Ben A Oostra; Johan P Mackenbach; C.M. Duijn; A Cecile J W Janssens
Genetic factors influence the clustering of depression among individuals with lower socioeconomic status.
PloS one 2009;4(3):e5069.
2009: Judith R Brouwer; Rob Willemsen; Ben A Oostra
Microsatellite repeat instability and neurological disease.
BioEssays : news and reviews in molecular, cellular and developmental biology 2009;31(1):71-83.
2008: Yurii Aulchenko; Ilse A Hoppenbrouwers; Sreeram V Ramagopalan; Linda Broer; Naghmeh Jafari; Jan Hillert; Jenny Link; Wangko Lundström; Eva Greiner; A Dessa Sadovnick; Dirk Goossens; Christine Van Broeckhoven; Jurgen Del-Favero; George C Ebers; Ben A Oostra; C.M. Duijn; Rogier Q Hintzen
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis.
Nature genetics 2008;40(12):1402-3.
2008: Sebastiano Cavallaro; Sabrina Paratore; Francesco Fradale; Femke De Vrij; Rob Willemsen; Ben A Oostra
Genes and pathways differentially expressed in the brains of Fxr2 knockout mice.
Neurobiology of disease 2008;32(3):510-20.
2008: M Carola Zillikens; Mojgan Yazdanpanah; L M Pardo; Fernando Rivadeneira; Yurii Aulchenko; Ben A Oostra; André G Uitterlinden; H A P Pols; C.M. Duijn
Sex-specific genetic effects influence variation in body composition.
Diabetologia 2008;51(12):2233-41.
2008: R A Oldenburg; Marieke F van Dooren; Bianca de Graaf; Erik J Simons; L C P Govaerts; SM Swagemakers; J M H Verkerk; Ben A Oostra; Aida M Bertoli Avella
A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus.
Human reproduction (Oxford, England) 2008;23(12):2835-41.
2008: Anne L Berends; Eric A Steegers; Aaron Isaacs; Y S Aulchenko; Fan Liu; Christianne J de Groot; Ben A Oostra; C.M. Duijn
Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands.
European journal of human genetics : EJHG 2008;16(12):1437-42.
2008: Mandy van Hoek; Abbas Dehghan; Jacqueline C M Witteman; C.M. Duijn; André G Uitterlinden; Ben A Oostra; Albert Hofman; Eric J G Sijbrands; A Cecile J W Janssens
Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
Diabetes 2008;57(11):3122-8.
2008: Chin-Song Lu; Yah-Huei Wu Chou; Marina van Doeselaar; Erik J Simons; Hsiu-Chen Chang; Guido J Breedveld; Alessio Di Fonzo; Rou-Shayn Chen; Yi-Hsin Weng; Szu-Chia Lai; Ben A Oostra; Vincenzo Bonifati
The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population.
Neurogenetics 2008;9(4):271-6.
2008: Albertine Ellen Smit; Josef N Van der Geest; M Vellema; S K E Koekkoek; R Willemsen; L C P Govaerts; Ben A Oostra; Chris I De Zeeuw; Frans VanderWerf
Savings and extinction of conditioned eyeblink responses in fragile X syndrome.
Genes, brain, and behavior 2008;7(7):770-7.
2008: Bart J B Bliek; Régine P M Steegers-Theunissen; Leen J Blok; Lindy A M Santegoets; Jan Lindemans; Ben A Oostra; Eric A P Steegers; Annelies de Klein
Genome-wide pathway analysis of folate-responsive genes to unravel the pathogenesis of orofacial clefting in man.
Birth defects research. Part A, Clinical and molecular teratology 2008;82(9):627-35.
2008: Peter Henneman; Yurii Aulchenko; Rune R Frants; Ko Willems van Dijk; Ben A Oostra; C.M. Duijn
Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study.
Journal of medical genetics 2008;45(9):572-7.
2008: Sandra López León; A Cecile J W Janssens; Henning Tiemeier; Albert Hofman; Yurii Aulchenko; Pieter J L M Snijders; Stephan Claes; Ben A Oostra; C.M. Duijn
Angiotensinogen M235T polymorphism and symptoms of depression in a population-based study and a family-based study.
Psychiatric genetics 2008;18(4):162-6.
2008: Sandra López León; A Cecile J W Janssens; Angela M González-Zuloeta Ladd; J Del-Favero; S J Claes; Ben A Oostra; C.M. Duijn
Meta-analyses of genetic studies on major depressive disorder.
Molecular psychiatry 2008;13(8):772-85.
2008: Jing Zhang; Zhe Fang; Corinne Jud; Mariska J Vansteensel; Krista Kaasik; Cheng Chi Lee; Urs Albrecht; Filippo Tamanini; Johanna H Meijer; Ben A Oostra; David L Nelson
Fragile X-related proteins regulate mammalian circadian behavioral rhythms.
American journal of human genetics 2008;83(1):43-52.
2008: Femke De Vrij; Josien Levenga; Herma C van der Linde; S K E Koekkoek; Chris I De Zeeuw; David L Nelson; Ben A Oostra; Rob Willemsen
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice.
Neurobiology of disease 2008;31(1):127-32.
2008: J R Brouwer; E Severijnen; Frank de Jong; David Hessl; Randi J Hagerman; Ben A Oostra; R Willemsen
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome.
Psychoneuroendocrinology 2008;33(6):863-73.
2008: Alejandro Arias-Vásquez; Yurii Aulchenko; Aaron Isaacs; Andy van Oosterhout; Kristel Sleegers; Albert Hofman; Christine Van Broeckhoven; Ben A Oostra; Monique Breteler; C.M. Duijn
Cyclin-dependent kinase 5 is associated with risk for Alzheimer's disease in a Dutch population-based study.
Journal of neurology 2008;255(5):655-62.
2008: Anne L Berends; Christianne J M De Groot; Eric J Sijbrands; Mark P S Sie; Sofie H Benneheij; Richard Pal; Roger Heydanus; Ben A Oostra; C.M. Duijn; Eric A P Steegers
Shared constitutional risks for maternal vascular-related pregnancy complications and future cardiovascular disease.
Hypertension 2008;51(4):1034-41.
2008: Aida M Bertoli Avella; Maria Luisa Conte; Francesca Punzo; Bianca de Graaf; Giuliana Lama; Angela La Manna; Cesare Polito; Carolina Grassia; Bruno Nobili; Pier Francesco Rambaldi; Ben A Oostra; Silverio Perrotta
ROBO2 gene variants are associated with familial vesicoureteral reflux.
Journal of the American Society of Nephrology : JASN 2008;19(4):825-31.
2008: Maria Luisa Conte; Aida M Bertoli Avella; Bianca de Graaf; Francesca Punzo; Giuliana Lama; Angela La Manna; Carolina Grassia; Pier Francesco Rambaldi; Ben A Oostra; Silverio Perrotta
A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.
Pediatric nephrology (Berlin, Germany) 2008;23(4):587-95.
2008: Ilse A Hoppenbrouwers; Fan Liu; Yurii Aulchenko; George C Ebers; Ben A Oostra; C.M. Duijn; Rogier Q Hintzen
Maternal transmission of multiple sclerosis in a dutch population.
Archives of neurology 2008;65(3):345-8.
2008: A Cecile J W Janssens; Marta Gwinn; Linda A Bradley; Ben A Oostra; C.M. Duijn; Muin J Khoury
A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions.
American journal of human genetics 2008;82(3):593-9.
2008: Manfred Kayser; Fan Liu; A Cecile J W Janssens; Fernando Rivadeneira; Oscar Lao; Kate van Duijn; Mark Vermeulen; Pascal P Arp; Mila M Jhamai; Wilfred F J van Ijcken; Johan T den Dunnen; Simon Heath; Diana Zelenika; Dominiek D G Despriet; Caroline C W Klaver; Johannes Vingerling; Paulus T V M de Jong; Albert Hofman; Yurii Aulchenko; André G Uitterlinden; Ben A Oostra; C.M. Duijn
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
American journal of human genetics 2008;82(2):411-23.
2008: Abbas Dehghan; Mandy van Hoek; Eric J G Sijbrands; Ben A Oostra; Albert Hofman; C.M. Duijn; Jacqueline C M Witteman
Lack of association of two common polymorphisms on 9p21 with risk of coronary heart disease and myocardial infarction; results from a prospective cohort study.
BMC medicine 2008;6():30.
2008: Marja W Wessels; Bianca de Graaf; Titia E Cohen-Overbeek; Silja E Spitaels; Lotte E de Groot-de Laat; Folkert J Ten Cate; Ingrid F M Frohn-Mulder; Ronald R de Krijger; Margot M Bartelings; Nienke Essed; Jury W Wladimiroff; Martinus F Niermeijer; Peter Heutink; Ben A Oostra; Dennis Dooijes; Aida M Bertoli Avella; Patrick J Willems
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Human genetics 2008;122(6):595-603.
2007: Yurii Aulchenko; Jan Pullen; Wigard P Kloosterman; Mojgan Yazdanpanah; Albert Hofman; Norbert Vaessen; Pieter J L M Snijders; Dmitry Zubakov; Ian Mackay; Mark Olavesen; Balbinder Sidhu; Vicki E Smith; Alisoun Carey; Eugene Berezikov; André G Uitterlinden; Ronald H Plasterk; Ben A Oostra; C.M. Duijn
LPIN2 is associated with type 2 diabetes, glucose metabolism, and body composition.
Diabetes 2007;56(12):3020-6.
2007: Giovanni Fabbrini; Massimo Pasquini; Cinzia Aurilia; Isabella Berardelli; Guido J Breedveld; Ben A Oostra; Vincenzo Bonifati; Alfredo Berardelli
A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene.
Movement disorders : official journal of the Movement Disorder Society 2007;22(15):2229-34.
2007: M J E van Rijn; Michiel J Bos; Aaron Isaacs; Mojgan Yazdanpanah; Alejandro Arias-Vásquez; Bruno H Ch Stricker; Olaf Klungel; Ben A Oostra; Peter J Koudstaal; Jacqueline C M Witteman; Albert Hofman; Monique Breteler; C.M. Duijn
Polymorphisms of the renin-angiotensin system are associated with blood pressure, atherosclerosis and cerebral white matter pathology.
Journal of neurology, neurosurgery, and psychiatry 2007;78(10):1083-7.
2007: A L Berends; Aida M Bertoli Avella; Christianne J M De Groot; C.M. Duijn; Ben A Oostra; Eric A P Steegers
STOX1 gene in pre-eclampsia and intrauterine growth restriction.
BJOG : an international journal of obstetrics and gynaecology 2007;114(9):1163-7.
2007: Alejandro Arias-Vásquez; Lonneke de Lau; Luba M Pardo; Fan Liu; Bing-Jian Feng; Aida M Bertoli Avella; Aaron Isaacs; Yurii Aulchenko; Albert Hofman; Ben A Oostra; Monique Breteler; C.M. Duijn
Relationship of the Ubiquilin 1 gene with Alzheimer's and Parkinson's disease and cognitive function.
Neuroscience letters 2007;424(1):1-5.
2007: L C P Govaerts; Albertine Ellen Smit; Jasper J Saris; Frans VanderWerf; Rob Willemsen; Cathy E Bakker; Chris I De Zeeuw; Ben A Oostra
Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.
Clinical genetics 2007;72(2):138-44.
2007: Leonieke M E van Koolwijk; Dominiek D G Despriet; C.M. Duijn; Luba M Pardo Cortes; Johannes Vingerling; Yurii Aulchenko; Ben A Oostra; Caroline C W Klaver; Hans G Lemij
Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology.
Investigative ophthalmology & visual science 2007;48(8):3669-76.
2007: Alejandro Arias-Vásquez; Aaron Isaacs; Yurii Aulchenko; Albert Hofman; Ben A Oostra; Monique Breteler; C.M. Duijn
The cholesteryl ester transfer protein (CETP) gene and the risk of Alzheimer's disease.
Neurogenetics 2007;8(3):189-93.
2007: Fan Liu; Alejandro Arias-Vásquez; Kristel Sleegers; Yurii Aulchenko; Manfred Kayser; Pascual Sanchez-Juan; Bing-Jian Feng; Aida M Bertoli Avella; John C van Swieten; Tatiana I Axenovich; Peter Heutink; Christine Van Broeckhoven; Ben A Oostra; C.M. Duijn
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.
American journal of human genetics 2007;81(1):17-31.
2007: Mojgan Yazdanpanah; Yurii Aulchenko; Albert Hofman; Joop A M J L Janssen; Fakhredin A Sayed-Tabatabaei; Ron van Schaik; Olaf Klungel; Bruno H Ch Stricker; Huibert A P Pols; Jacqueline C M Witteman; Steven W J Lamberts; Ben A Oostra; C.M. Duijn
Effects of the renin-angiotensin system genes and salt sensitivity genes on blood pressure and atherosclerosis in the total population and patients with type 2 diabetes.
Diabetes 2007;56(7):1905-12.
2007: Aaron Isaacs; Yurii Aulchenko; Albert Hofman; Eric J G Sijbrands; Fakhredin A Sayed-Tabatabaei; Olaf Klungel; Anke Hilse Maitland-van der Zee; Bruno H Ch Stricker; Ben A Oostra; Jacqueline C M Witteman; C.M. Duijn
Epistatic effect of cholesteryl ester transfer protein and hepatic lipase on serum high-density lipoprotein cholesterol levels.
The Journal of clinical endocrinology and metabolism 2007;92(7):2680-7.
2007: Joaquim Ferreira; Leonor Correia Guedes; Mário Miguel Rosa; Miguel Coelho; Marina van Doeselaar; Dorothea Schweiger; Alessio Di Fonzo; Ben A Oostra; Cristina Sampaio; Vincenzo Bonifati
High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal.
Movement disorders : official journal of the Movement Disorder Society 2007;22(8):1194-201.
2007: Aaron Isaacs; Fakhredin A Sayed-Tabatabaei; Albert Hofman; Ben A Oostra; Olaf Klungel; Anke-Hilse Maitland-Vander Zee; Bruno H Ch Stricker; Jacqueline C M Witteman; C.M. Duijn
The cholesteryl ester transfer protein I405V polymorphism is associated with increased high-density lipoprotein levels and decreased risk of myocardial infarction: the Rotterdam Study.
European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology 2007;14(3):419-21.
2007: Alessio Di Fonzo; Hsin F Chien; Mariana Peixoto Socal; Sabrina Giraudo; Cristina Tassorelli; G Iliceto; Giovanni Fabbrini; Roberto Marconi; E Fincati; Giovanni Abbruzzese; P Marini; Ferdinando Squitieri; Martin Horstink; Pasquale Montagna; A Dalla Libera; Fabrizio Stocchi; Stefano Goldwurm; Joaquim Ferreira; Giuseppe Meco; Emilia Martignoni; Leonardo Lopiano; Laura B Jardim; Ben A Oostra; Egberto R Barbosa; Vincenzo Bonifati
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
Neurology 2007;68(19):1557-62.
2007: Kristel Sleegers; Inge de Koning; Yurii Aulchenko; M J E van Rijn; M P W A Houben; Esther A Croes; John C van Swieten; Ben A Oostra; C.M. Duijn
Cerebrovascular risk factors do not contribute to genetic variance of cognitive function: the ERF study.
Neurobiology of aging 2007;28(5):735-41.
2007: Anne Grünewald; Guido J Breedveld; Katja Lohmann-Hedrich; Christan F Rohé; Inke R König; Johann Hagenah; Nicola Vanacore; Giuseppe Meco; Angelo Antonini; Stefano Goldwurm; Suzanne Lesage; Alexandra Dürr; Ferdinand Binkofski; Hartwig R Siebner; Alexander Münchau; Alexis Brice; Ben A Oostra; Christine Klein; Vincenzo Bonifati
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
Neurogenetics 2007;8(2):103-9.
2007: M J E van Rijn; A F C Schut; Yurii Aulchenko; jaap deinum; Fakhredin A Sayed-Tabatabaei; Mojgan Yazdanpanah; Aaron Isaacs; Tatiana I Axenovich; Irina V Zorkoltseva; M Carola Zillikens; Huibert A P Pols; Jacqueline C M Witteman; Ben A Oostra; C.M. Duijn
Heritability of blood pressure traits and the genetic contribution to blood pressure variance explained by four blood-pressure-related genes.
Journal of hypertension 2007;25(3):565-70.
2007: Giovanni Cossu; Marina van Doeselaar; Marcello Deriu; Maurizio Melis; Andrea Molari; Alessio Di Fonzo; Ben A Oostra; Vincenzo Bonifati
LRRK2 mutations and Parkinson's disease in Sardinia--A Mediterranean genetic isolate.
Parkinsonism & related disorders 2007;13(1):17-21.
2007: J R Brouwer; Edwin J Mientjes; Cathy E Bakker; Ingeborg M Nieuwenhuizen; Lies-Anne Severijnen; Herma C van der Linde; David L Nelson; Ben A Oostra; Rob Willemsen
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.
Experimental cell research 2007;313(2):244-53.
2007: Aaron Isaacs; Fakhredin A Sayed-Tabatabaei; Yurii Aulchenko; M Carola Zillikens; Eric J G Sijbrands; A F C Schut; Wim P F Rutten; Huibert A P Pols; Jacqueline C M Witteman; Ben A Oostra; C.M. Duijn
Heritabilities, apolipoprotein E, and effects of inbreeding on plasma lipids in a genetically isolated population: the Erasmus Rucphen Family Study.
European journal of epidemiology 2007;22(2):99-105.
2007: I A Hoppenbrouwers; L M Pardo Cortes; Yurii Aulchenko; Kees Sintnicolaas; Omer T Njajou; Pieter J L M Snijders; Ben A Oostra; C.M. Duijn; Rogier Q Hintzen
Familial clustering of multiple sclerosis in a Dutch genetic isolate.
Multiple sclerosis (Houndmills, Basingstoke, England) 2007;13(1):17-24.
2007: Sebastiano A Musumeci; Giuseppe Calabrese; Carmela Maria Bonaccorso; Simona D'Antoni; Judith R Brouwer; Cathy E Bakker; Maurizio Elia; Raffaele Ferri; David L Nelson; Ben A Oostra; Maria Vincenza Catania
Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes.
Experimental neurology 2007;203(1):233-40.
2006: Mojgan Yazdanpanah; Fakhredin A Sayed-Tabatabaei; Albert Hofman; Yurii Aulchenko; Ben A Oostra; Bruno H Ch Stricker; Huibert A P Pols; Steven W J Lamberts; Jacqueline C M Witteman; Joop A M J L Janssen; C.M. Duijn
The alpha-adducin gene is associated with macrovascular complications and mortality in patients with type 2 diabetes.
Diabetes 2006;55(10):2922-7.
2006: A J M H Verkerk; D C Cath; Herma C van der Linde; J Both; Peter Heutink; Guido J Breedveld; Yurii Aulchenko; Ben A Oostra
Genetic and clinical analysis of a large Dutch Gilles de la Tourette family.
Molecular psychiatry 2006;11(10):954-64.
2006: Stefano Goldwurm; Michela Zini; Alessio Di Fonzo; Danilo De Gaspari; Chiara Siri; Erik J Simons; Marina van Doeselaar; Silvana Tesei; Angelo Antonini; Margherita Canesi; Anna Zecchinelli; Claudio Mariani; Nicoletta Meucci; Giorgio Sacilotto; Roberto Cilia; Ioannis Isaias; A Bonetti; Francesca Sironi; Sara Ricca; Ben A Oostra; Vincenzo Bonifati; Gianni Pezzoli
LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample.
Parkinsonism & related disorders 2006;12(7):410-9.
2006: Steven Bergink; Lies-Anne Severijnen; Nils Wijgers; Kaoru Sugasawa; Humaira Yousaf; Johan M Kros; John C van Swieten; Ben A Oostra; Jan H J Hoeijmakers; Wim Vermeulen; Rob Willemsen
The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair.
Neurobiology of disease 2006;23(3):708-16.
2006: Dominiek D G Despriet; Caroline C W Klaver; Jacqueline C M Witteman; Arthur A B Bergen; Isabella Kardys; Moniek P M de Maat; Sharmila S Boekhoorn; Johannes Vingerling; Albert Hofman; Ben A Oostra; André G Uitterlinden; Theo Stijnen; C.M. Duijn; Paulus T V M de Jong
Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration.
JAMA : the journal of the American Medical Association 2006;296(3):301-9.
2006: Alice S Brooks; P A Leegwater; Grzegorz Burzynski; Patrick J Willems; Bianca de Graaf; I van Langen; Peter Heutink; Ben A Oostra; Robert M W Hofstra; Aida M Bertoli Avella
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.
Journal of medical genetics 2006;43(7):e35.
2006: Alessio Di Fonzo; Yah-Huei Wu Chou; Chin-Song Lu; Marina van Doeselaar; Erik J Simons; Christan F Rohé; Hsiu-Chen Chang; Rou-Shayn Chen; Yi-Hsin Weng; Nicola Vanacore; Guido J Breedveld; Ben A Oostra; Vincenzo Bonifati
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.
Neurogenetics 2006;7(3):133-8.
2006: Corinne M Spencer; Ekaterina Serysheva; Lisa A Yuva-Paylor; Ben A Oostra; David L Nelson; Richard Paylor
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins.
Human molecular genetics 2006;15(12):1984-94.
2006: Guido J Breedveld; I F M de Coo; Maarten H Lequin; W F M Arts; Peter Heutink; Douglas B Gould; Simon W M John; Ben A Oostra; Grazia M S Mancini
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
Journal of medical genetics 2006;43(6):490-5.
2006: Fakhredin A Sayed-Tabatabaei; Ben A Oostra; Aaron Isaacs; C.M. Duijn; Jacqueline C M Witteman
ACE polymorphisms.
Circulation research 2006;98(9):1123-33.
2006: Isabella Kardys; Caroline C W Klaver; Dominiek D G Despriet; Arthur A B Bergen; André G Uitterlinden; Albert Hofman; Ben A Oostra; C.M. Duijn; Paulus T V M de Jong; Jacqueline C M Witteman
A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study.
Journal of the American College of Cardiology 2006;47(8):1568-75.
2006: Regie Lyn P Santos; M Carola Zillikens; Fernando Rivadeneira; Huibert A P Pols; Ben A Oostra; C.M. Duijn; Yurii Aulchenko
Heritability of fasting glucose levels in a young genetically isolated population.
Diabetologia 2006;49(4):667-72.
2006: Aida M Bertoli Avella; Marieke C J Dekker; Yurii Aulchenko; Jeanine J Houwing-Duistermaat; Erik J Simons; Leon Testers; Luba M Pardo; Tessa Rademaker-Havinga; Pieter J L M Snijders; John C van Swieten; Vincenzo Bonifati; Peter Heutink; C.M. Duijn; Ben A Oostra
Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands.
Human genetics 2006;119(1-2):51-60.
2006: Hsin F Chien; Christan F Rohé; Maria D L Costa; Guido J Breedveld; Ben A Oostra; Egberto R Barbosa; Vincenzo Bonifati
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.
Neurogenetics 2006;7(1):13-9.
2006: Edwin J Mientjes; Ingeborg M Nieuwenhuizen; Laura L Kirkpatrick; T Zu; Marianne Hoogeveen-Westerveld; Lies-Anne Severijnen; M Rifé; Rob Willemsen; David L Nelson; Ben A Oostra
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo.
Neurobiology of disease 2006;21(3):549-55.
2006: Esther Brusse; Inge de Koning; anneke maat-kievit; Ben A Oostra; Peter Heutink; John C van Swieten
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.
Movement disorders : official journal of the Movement Disorder Society 2006;21(3):396-401.
2006: Omer T Njajou; Behrooz Alizadeh; Yurii Aulchenko; M Carola Zillikens; Huibert A P Pols; Ben A Oostra; D W Swinkels; C.M. Duijn
Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) Study.
Human heredity 2006;61(4):222-8.
2006: Surya A Reis; Ben A Oostra; Rob Willemsen
Isolation of mouse neuritic mRNAs.
Journal of molecular histology 2006;37(1-2):79-86.
2005: Maija Castren; Topi Tervonen; Virve Kärkkäinen; Seppo Heinonen; Eero Castrén; Kim Larsson; Cathy E Bakker; Ben A Oostra; Karl Akerman
Altered differentiation of neural stem cells in fragile X syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(49):17834-9.
2005: Annemarie G M G J Mulders; Marianne ten Kate-Booij; Richard Pal; Marjolijn De Kruif; Lizka Nekrui; Ben A Oostra; Bart CJM Fauser; Joop S E Laven
Influence of oral contraceptive pills on phenotype expression in women with polycystic ovary syndrome.
Reproductive biomedicine online 2005;11(6):690-6.
2005: Chin-Song Lu; Erik J Simons; Yah-Huei Wu Chou; Alessio Di Fonzo; Hsiu-Chen Chang; Rou-Shayn Chen; Yi-Hsin Weng; Christan F Rohé; Guido J Breedveld; Nobutaka Hattori; Thomas Gasser; Ben A Oostra; Vincenzo Bonifati
The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease.
Parkinsonism & related disorders 2005;11(8):521-2.
2005: Stefano Goldwurm; Alessio Di Fonzo; Erik J Simons; Christan F Rohé; Michela Zini; Margherita Canesi; Silvana Tesei; Anna Zecchinelli; Angelo Antonini; Claudio Mariani; Nicoletta Meucci; Giorgio Sacilotto; Francesca Sironi; Giuliana Salani; J Ferreira; H F Chien; Edito Fabrizio; N Vanacore; A Dalla Libera; Fabrizio Stocchi; Cosimo Diroma; P Lamberti; Cristina Sampaio; Giuseppe Meco; E Barbosa; Aida M Bertoli Avella; Guido J Breedveld; Ben A Oostra; Gianni Pezzoli; Vincenzo Bonifati
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.
Journal of medical genetics 2005;42(11):e65.
2005: Fakhredin A Sayed-Tabatabaei; M J E van Rijn; A F C Schut; Yurii Aulchenko; Esther A Croes; M Carola Zillikens; Huibert A P Pols; Jacqueline C M Witteman; Ben A Oostra; C.M. Duijn
Heritability of the function and structure of the arterial wall: findings of the Erasmus Rucphen Family (ERF) study.
Stroke; a journal of cerebral circulation 2005;36(11):2351-6.
2005: M J E van Rijn; A J C Slooter; A F C Schut; Aaron Isaacs; Yurii Aulchenko; Pieter J L M Snijders; L Jaap Kappelle; John C van Swieten; Ben A Oostra; C.M. Duijn
Familial aggregation, the PDE4D gene, and ischemic stroke in a genetically isolated population.
Neurology 2005;65(8):1203-9.
2005: Raffaella Giuffrida; Sebastiano Musumeci; Simona D'Antoni; Carmela Maria Bonaccorso; Anna Maria Giuffrida-Stella; Ben A Oostra; Maria Vincenza Catania
A reduced number of metabotropic glutamate subtype 5 receptors are associated with constitutive homer proteins in a mouse model of fragile X syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2005;25(39):8908-16.
2005: Rob Willemsen; Edwin J Mientjes; Ben A Oostra
FXTAS: a progressive neurologic syndrome associated with Fragile X premutation.
Current neurology and neuroscience reports 2005;5(5):405-10.
2005: Leonardo Restivo; Francesca Ferrari; Enrica Passino; Carmelo Sgobio; Jörg Bock; Ben A Oostra; Claudia Bagni; Martine Ammassari-Teule
Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(32):11557-62.
2005: S K E Koekkoek; K Yamaguchi; Bogdan A Milojkovic; Bjorn Dortland; Tom J H Ruigrok; Reinoud Maex; W De Graaf; Albertine Ellen Smit; Frans VanderWerf; Cathy E Bakker; Rob Willemsen; T Ikeda; S Kakizawa; K Onodera; David L Nelson; Edwin J Mientjes; Marieke Joosten; Erik De Schutter; Ben A Oostra; M Ito; Chris I De Zeeuw
Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome.
Neuron 2005;47(3):339-52.
2005: Debby Van Dam; Vanessa Errijgers; R Frank Kooy; Rob Willemsen; Edwin J Mientjes; Ben A Oostra; Peter Paul De Deyn
Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).
Behavioural brain research 2005;162(2):233-9.
2005: Maria Martinez; Alexis Brice; Jenny R Vaughan; Alexander Zimprich; Monique Breteler; Giuseppe Meco; Alessandro Filla; Matthew J Farrer; Christine Bétard; Andrew Singleton; John Hardy; Giuseppe De Michele; Vincenzo Bonifati; Ben A Oostra; Thomas Gasser; Nicholas W Wood; Alexandra Dürr
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005;136B(1):72-4.
2005: Alice S Brooks; Aida M Bertoli Avella; Grzegorz Burzynski; Guido J Breedveld; Jan Osinga; Ludolf G Boven; Jane A Hurst; Grazia M S Mancini; Maarten H Lequin; René F M de Coo; Ivana Matera; Esther de Graaff; Carel Meijers; Patrick J Willems; Dick Tibboel; Ben A Oostra; Robert M W Hofstra
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
American journal of human genetics 2005;77(1):120-6.
2005: L M Pardo; Ian Mackay; Ben A Oostra; C.M. Duijn; Yurii Aulchenko
The effect of genetic drift in a young genetically isolated population.
Annals of human genetics 2005;69(Pt 3):288-95.
2005: Merel Klaassens; Marieke F van Dooren; HJ Eussen; H Douben; A T den Dekker; C Lee; P K Donahoe; R J H Galjaard; Natascha N T Goemaere; Ronald R de Krijger; Cokkie H Wouters; J Wauters; Ben A Oostra; Dick Tibboel; Annelies de Klein
Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.
American journal of human genetics 2005;76(5):877-82.
2005: Elisabetta Tabolacci; Roberta Pietrobono; Umberto Moscato; Ben A Oostra; Pietro Chiurazzi; Giovanni Neri
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments.
European journal of human genetics : EJHG 2005;13(5):641-8.
2005: Sandra van 't Padje; Bart Engels; Lau Blonden; Lies-Anne Severijnen; Frans Verheijen; Ben A Oostra; Rob Willemsen
Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene.
Development genes and evolution 2005;215(4):198-206.
2005: Alessio Di Fonzo; Christan F Rohé; Joaquim Ferreira; Hsin F Chien; Laura Vacca; Fabrizio Stocchi; Leonor Guedes; Edito Fabrizio; Mario Manfredi; Nicola Vanacore; Stefano Goldwurm; Guido J Breedveld; Cristina Sampaio; Giuseppe Meco; Egberto Barbosa; Ben A Oostra; Vincenzo Bonifati
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
Lancet 2005;365(9457):412-5.
2005: Roberta Pietrobono; Elisabetta Tabolacci; Francesca Zalfa; Ilaria Zito; Alessandra Terracciano; Umberto Moscato; Claudia Bagni; Ben A Oostra; Pietro Chiurazzi; Giovanni Neri
Molecular dissection of the events leading to inactivation of the FMR1 gene.
Human molecular genetics 2005;14(2):267-77.
2005: Topi Tervonen; Karl Akerman; Ben A Oostra; Maija Castren
Rgs4 mRNA expression is decreased in the brain of Fmr1 knockout mouse.
Brain research. Molecular brain research 2005;133(1):162-5.
2005: Esther A Croes; Rachid El Galta; Jeanine J Houwing-Duistermaat; Robert F Ferdinand; Sandra López León; Tessa Rademaker-Havinga; Marieke C J Dekker; Ben A Oostra; Frank C Verhulst; C.M. Duijn
Phenotypic subtypes in attention deficit hyperactivity disorder in an isolated population.
European journal of epidemiology 2005;20(9):789-94.
2005: Lau Blonden; Sandra van 't Padje; Lies-Anne Severijnen; Olivier Destree; Ben A Oostra; Rob Willemsen
Two members of the Fxr gene family, Fmr1 and Fxr1, are differentially expressed in Xenopus tropicalis.
The International journal of developmental biology 2005;49(4):437-41.
2005: Alice S Brooks; Ben A Oostra; Robert M W Hofstra
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.
Clinical genetics 2005;67(1):6-14.
2004: Alejandro Arias Vásquez; Kristel Sleegers; Marieke C J Dekker; Willem A van Gool; John C van Swieten; Yurii Aulchenko; Ben A Oostra; C.M. Duijn
A deletion in DJ-1 and the risk of dementia--a population-based survey.
Neuroscience letters 2004;372(3):196-9.
2004: Maria Martinez; Alexis Brice; Jenny R Vaughan; Alexander Zimprich; Monique Breteler; Giuseppe Meco; Alessandro Filla; Matthew J Farrer; Christine Bétard; John Hardy; Giuseppe De Michele; Vincenzo Bonifati; Ben A Oostra; Thomas Gasser; Nicholas W Wood; Alexandra Dürr
Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease.
Journal of medical genetics 2004;41(12):900-7.
2004: Marieke C J Dekker; Silvia Eshuis; R P Maguire; L Veenma-van der Duijn; Jan Pruim; Pieter J L M Snijders; Ben A Oostra; C.M. Duijn; Klaus L Leenders
PET neuroimaging and mutations in the DJ-1 gene.
Journal of neural transmission (Vienna, Austria : 1996) 2004;111(12):1575-81.
2004: Violeta Stoyanova; Stefano Rossetti; Leontine van Unen; Ben A Oostra; André Hoogeveen
Loss of FMR1 hypermethylation in somatic cell heterokaryons.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2004;18(15):1964-6.
2004: Guido J Breedveld; B van Wetten; G D te Raa; Esther Brusse; John C van Swieten; Ben A Oostra; JA Maat-Kievit
A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.
Journal of medical genetics 2004;41(11):858-66.
2004: Mariëtte Schrier; Lies-Anne Severijnen; Surya Reis; Maria Rife; Sandra van't Padje; Gert van Cappellen; Ben A Oostra; Rob Willemsen
Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells.
Experimental neurology 2004;189(2):343-53.
2004: Marieke C J Dekker; R J H Galjaard; Pieter J L M Snijders; Peter Heutink; Ben A Oostra; C.M. Duijn
Brachydactyly and short stature in a kindred with early-onset parkinsonism.
American journal of medical genetics. Part A 2004;130A(1):102-4.
2004: Christan F Rohé; Pasquale Montagna; Guido J Breedveld; Pietro Cortelli; Ben A Oostra; Vincenzo Bonifati
Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism.
Annals of neurology 2004;56(3):427-31.
2004: Bart Engels; Sandra van 't Padje; Lau Blonden; Lies-Anne Severijnen; Ben A Oostra; Rob Willemsen
Characterization of Fxr1 in Danio rerio; a simple vertebrate model to study costamere development.
The Journal of experimental biology 2004;207(Pt 19):3329-38.
2004: Vincenzo Bonifati; Ben A Oostra; Peter Heutink
Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic forms.
Cellular and molecular life sciences : CMLS 2004;61(14):1729-50.
2004: Kristel Sleegers; Gerwin Roks; Jessie Theuns; Yurii Aulchenko; Rosa Rademakers; Marc Cruts; Willem A van Gool; Christine Van Broeckhoven; Peter Heutink; Ben A Oostra; John C van Swieten; C.M. Duijn
Familial clustering and genetic risk for dementia in a genetically isolated Dutch population.
Brain : a journal of neurology 2004;127(Pt 7):1641-9.
2004: Edwin J Mientjes; Rob Willemsen; Laura L Kirkpatrick; Ingeborg M Nieuwenhuizen; Marianne Hoogeveen-Westerveld; Marcel Verweij; Surya Reis; Barbara Bardoni; André Hoogeveen; Ben A Oostra; David L Nelson
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo.
Human molecular genetics 2004;13(13):1291-302.
2004: Yurii Aulchenko; Peter Heutink; Ian Mackay; Aida M Bertoli Avella; Jan Pullen; Norbert Vaessen; Tessa Rademaker-Havinga; Lodewijk A Sandkuijl; Lon Cardon; Ben A Oostra; C.M. Duijn
Linkage disequilibrium in young genetically isolated Dutch population.
European journal of human genetics : EJHG 2004;12(7):527-34.
2004: Surya A Reis; Rob Willemsen; Leontine van Unen; André Hoogeveen; Ben A Oostra
Prospects of TAT-mediated protein therapy for fragile X syndrome.
Journal of molecular histology 2004;35(4):389-95.
2004: Aida M Bertoli Avella; Ben A Oostra; Peter Heutink
Chasing genes in Alzheimer's and Parkinson's disease.
Human genetics 2004;114(5):413-38.
2004: Vincenzo Bonifati; Ben A Oostra; Peter Heutink
Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease.
Journal of molecular medicine (Berlin, Germany) 2004;82(3):163-74.
2004: Violeta Stoyanova; Ben A Oostra
The CGG repeat and the FMR1 gene.
Methods in molecular biology (Clifton, N.J.) 2004;277():173-84.
2004: Rob Willemsen; Ben A Oostra; Gary J. Bassell; Jason B Dictenberg
The fragile X syndrome: from molecular genetics to neurobiology.
Mental retardation and developmental disabilities research reviews 2004;10(1):60-7.
2003: Yurii Aulchenko; Norbert Vaessen; Peter Heutink; Jan Pullen; Pieter J L M Snijders; Albert Hofman; Lodewijk A Sandkuijl; Jeanine J Houwing-Duistermaat; Mark Edwards; Simon Bennett; Ben A Oostra; C.M. Duijn
A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands.
Diabetes 2003;52(12):3001-4.
2003: Pietro Chiurazzi; Giovanni Neri; Ben A Oostra
Understanding the biological underpinnings of fragile X syndrome.
Current opinion in pediatrics 2003;15(6):559-66.
2003: Ben A Oostra; Rob Willemsen
A fragile balance: FMR1 expression levels.
Human molecular genetics 2003;12 Spec No 2():R249-57.
2003: Vincenzo Bonifati; Patrizia Rizzu; Ferdinando Squitieri; Elmar Krieger; Nicola Vanacore; John C van Swieten; Alexis Brice; C.M. Duijn; Ben A Oostra; Giuseppe Meco; Peter Heutink
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2003;24(3):159-60.
2003: Marieke C J Dekker; John C van Swieten; Jeanine J Houwing-Duistermaat; Pieter J L M Snijders; E Boeren; Albert Hofman; Monique Breteler; Peter Heutink; Ben A Oostra; C.M. Duijn
A clinical-genetic study of Parkinson's disease in a genetically isolated community.
Journal of neurology 2003;250(9):1056-62.
2003: R J H Galjaard; Herma C van der Linde; Bert H J Eussen; Bert B A de Vries; Cokkie H Wouters; Ben A Oostra; Esther de Graaff; Peter Heutink
Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring.
American journal of medical genetics. Part A 2003;121A(2):168-73.
2003: Laura A Lettice; Simon J H Heaney; Lorna A Purdie; Li Li; Philippe de Beer; Ben A Oostra; Debbie K Goode; greg elgar; Robert E Hill; Esther de Graaff
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
Human molecular genetics 2003;12(14):1725-35.
2003: Bert B A de Vries; Lies-Anne Severijnen; A Jacobs; R Olmer; D J J Halley; Ben A Oostra; Rob Willemsen
FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics.
Journal of medical genetics 2003;40(7):535-9.
2003: Marieke C J Dekker; Vincenzo Bonifati; John C van Swieten; Nico Leenders; R J H Galjaard; Pieter J L M Snijders; Martin Horstink; Peter Heutink; Ben A Oostra; C.M. Duijn
Clinical features and neuroimaging of PARK7-linked parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2003;18(7):751-7.
2003: Annemieke J M H Verkerk; Carol A Mathews; Marijke Joosse; Bert H J Eussen; Peter Heutink; Ben A Oostra
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder.
Genomics 2003;82(1):1-9.
2003: A F C Schut; Joop A M J L Janssen; jaap deinum; Jeannette M Vergeer; Albert Hofman; Steven W J Lamberts; Ben A Oostra; Huibert A P Pols; Jacqueline C M Witteman; C.M. Duijn
Polymorphism in the promoter region of the insulin-like growth factor I gene is related to carotid intima-media thickness and aortic pulse wave velocity in subjects with hypertension.
Stroke; a journal of cerebral circulation 2003;34(7):1623-7.
2003: Rob Willemsen; A Smits; Lies-Anne Severijnen; M Jansen; A Jacobs; E De Bruyn; Ben A Oostra
Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis.
Journal of medical genetics 2003;40(5):377-9.
2003: R J H Galjaard; Arie P T Smits; Joep H A M Tuerlings; Aagje G Bais; Aida M Bertoli Avella; Guido J Breedveld; Esther de Graaff; Ben A Oostra; Peter Heutink
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.
European journal of human genetics : EJHG 2003;11(5):409-15.
2003: Rob Willemsen; Marianne Hoogeveen-Westerveld; Surya Reis; Jan C Holstege; Lies-Anne Severijnen; Ingeborg M Nieuwenhuizen; Mariëtte Schrier; Leontine van Unen; Flora Tassone; André Hoogeveen; Paul J Hagerman; Edwin J Mientjes; Ben A Oostra
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.
Human molecular genetics 2003;12(9):949-59.
2003: Francesca Zalfa; Marcello Giorgi; Beatrice Primerano; Annamaria Moro; Alessandra Di Penta; Surya Reis; Ben A Oostra; Claudia Bagni
The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses.
Cell 2003;112(3):317-27.
2003: Vincenzo Bonifati; Patrizia Rizzu; Marijke J van Baren; Onno Schaap; Guido J Breedveld; Elmar Krieger; Marieke C J Dekker; Ferdinando Squitieri; Pablo Ibanez; Marijke Joosse; Jeroen W F van Dongen; Nicola Vanacore; John C van Swieten; Alexis Brice; Giuseppe Meco; C.M. Duijn; Ben A Oostra; Peter Heutink
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Science (New York, N.Y.) 2003;299(5604):256-9.
2003: Cathy E Bakker; Ben A Oostra
Understanding fragile X syndrome: insights from animal models.
Cytogenetic and genome research 2003;100(1-4):111-23.
2003: John C van Swieten; Esther Brusse; Bianca de Graaf; Elmar Krieger; Raoul van de Graaf; Inge de Koning; anneke maat-kievit; Peter Leegwater; Dennis Dooijes; Ben A Oostra; Peter Heutink
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].
American journal of human genetics 2003;72(1):191-9.
2002: Yolanda De diego Otero; Lies-Anne Severijnen; Gert van Cappellen; Mariëtte Schrier; Ben A Oostra; Rob Willemsen
Transport of fragile X mental retardation protein via granules in neurites of PC12 cells.
Molecular and cellular biology 2002;22(23):8332-41.
2002: Omer T Njajou; Gerard de Jong; Bianca Berghuis; Norbert Vaessen; Pieter J L M Snijders; Jan P Goossens; John H P Wilson; Martijn H Breuning; Ben A Oostra; Peter Heutink; Lodewijk A Sandkuijl; C.M. Duijn
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics.
Blood cells, molecules & diseases 2002;29(3):439-43.
2002: Maija Castren; Katariina E Lampinen; Riitta Miettinen; Eija Koponen; Ilkka Sipola; Cathy E Bakker; Ben A Oostra; Eero Castrén
BDNF regulates the expression of fragile X mental retardation protein mRNA in the hippocampus.
Neurobiology of disease 2002;11(1):221-9.
2002: Peter Heutink; Ben A Oostra
Gene finding in genetically isolated populations.
Human molecular genetics 2002;11(20):2507-15.
2002: Enza Maria Valente; Francesco Brancati; Viviana Caputo; E A Graham; Mary B Davis; Alessandro Ferraris; Monique Breteler; Thomas Gasser; Vincenzo Bonifati; Anna Rita Bentivoglio; Giuseppe De Michele; Alexandra Dürr; Pietro Cortelli; Alessandro Filla; Giuseppe Meco; Ben A Oostra; Alexis Brice; Alberto Albanese; Bruno Dallapiccola; Nicholas W Wood
PARK6 is a common cause of familial parkinsonism.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2002;23 Suppl 2():S117-8.
2002: Vincenzo Bonifati; Marieke C J Dekker; Nicola Vanacore; Giovanni Fabbrini; Ferdinando Squitieri; Roberto Marconi; Angelo Antonini; P Brustenghi; A Dalla Libera; Michele De Mari; Fabrizio Stocchi; P Montagna; V Gallai; Patrizia Rizzu; John C van Swieten; Ben A Oostra; C.M. Duijn; Giuseppe Meco; Peter Heutink
Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2002;23 Suppl 2():S59-60.
2002: Yong Tian; Guido J Breedveld; Shangzhi Huang; Ben A Oostra; Peter Heutink; Wilson H Y Lo
Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1.
Biochimica et biophysica acta 2002;1577(1):121-5.
2002: Scott Irwin; Madhuri Idupulapati; Molly Elizabeth Gilbert; Jennifer B Harris; Aparna B Chakravarti; Erica J Rogers; Ralph A Crisostomo; Brian P Larsen; Amit Mehta; C J Alcantara; Biraju Patel; Rodney A Swain; Ivan Jeanne Weiler; Ben A Oostra; William T Greenough
Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice.
American journal of medical genetics 2002;111(2):140-6.
2002: Roberta Pietrobono; Maria Grazia Pomponi; Elisabetta Tabolacci; Ben A Oostra; Pietro Chiurazzi; Giovanni Neri
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine.
Nucleic acids research 2002;30(14):3278-85.
2002: Rob Willemsen; Carola J M Bontekoe; Lies-Anne Severijnen; Ben A Oostra
Timing of the absence of FMR1 expression in full mutation chorionic villi.
Human genetics 2002;110(6):601-5.
2002: Laura A Lettice; Taizo Horikoshi; Simon J H Heaney; Marijke J van Baren; Herma C van der Linde; Guido J Breedveld; Marijke Joosse; Nurten Akarsu; Ben A Oostra; Naoto Endo; Minoru Shibata; Mikio Suzuki; Eiichi Takahashi; Toshikatsu Shinka; Yutaka Nakahori; Dai Ayusawa; Kazuhiko Nakabayashi; Stephen W Scherer; Peter Heutink; Robert E Hill; Sumihare Noji
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(11):7548-53.
2002: André Hoogeveen; Rob Willemsen; Ben A Oostra
Fragile X syndrome, the Fragile X related proteins, and animal models.
Microscopy research and technique 2002;57(3):148-55.
2002: Guido J Breedveld; Jeroen W F van Dongen; Cesare Danesino; Andrea Guala; Alan K Percy; Leon S Dure; Peter Harper; Lazarus P Lazarou; Herma C van der Linde; Marijke Joosse; Annette Grüters; Marcy E MacDonald; Bert B A de Vries; W F M Arts; Ben A Oostra; Heiko Krude; Peter Heutink
Mutations in TITF-1 are associated with benign hereditary chorea.
Human molecular genetics 2002;11(8):971-9.
2002: Norbert Vaessen; Joop A M J L Janssen; Peter Heutink; Albert Hofman; Steven W J Lamberts; Ben A Oostra; Huibert A P Pols; C.M. Duijn
Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight.
Lancet 2002;359(9311):1036-7.
2002: Marijke J van Baren; Herma C van der Linde; Guido J Breedveld; Willy M Baarends; Patrizia Rizzu; Esther de Graaff; Ben A Oostra; Peter Heutink
A double RING-H2 domain in RNF32, a gene expressed during sperm formation.
Biochemical and biophysical research communications 2002;292(1):58-65.
2002: Hongshan Zhao; Yong Tian; Guido Breedveld; Shangzhi Huang; Ying Zou; Jue Y; Jinghua Chai; Hui Li; Mingyue Li; Ben A Oostra; Wilson H Y Lo; Peter Heutink
Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred.
European journal of human genetics : EJHG 2002;10(3):162-6.
2002: Omer T Njajou; Norbert Vaessen; Ben A Oostra; Peter Heutink; C.M. Duijn
The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes.
Molecular genetics and metabolism 2002;75(3):290-1.
2002: Ben A Oostra
Functions of the fragile X protein.
Trends in molecular medicine 2002;8(3):102-3.
2002: Carola J M Bontekoe; Kellie L McIlwain; Ingeborg M Nieuwenhuizen; Lisa A Yuva-Paylor; Anna Nellis; Rob Willemsen; Zhe Fang; Laura L Kirkpatrick; Cathy E Bakker; Robin McAninch; Ngan Ching Cheng; Michelle Merriweather; André Hoogeveen; David Nelson; Richard Paylor; Ben A Oostra
Knockout mouse model for Fxr2: a model for mental retardation.
Human molecular genetics 2002;11(5):487-98.
2002: Norbert Vaessen; Peter Heutink; Jeanine J Houwing-Duistermaat; Pieter J L M Snijders; Tessa Rademaker-Havinga; Leon Testers; Manou R Batstra; Lodewijk A Sandkuijl; C.M. Duijn; Ben A Oostra
A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands.
Diabetes 2002;51(3):856-9.
2002: Vincenzo Bonifati; Guido J Breedveld; Ferdinando Squitieri; Nicola Vanacore; Pierluigi Brustenghi; Biswadjiet S Harhangi; Pasquale Montagna; Milena Cannella; Giovanni Fabbrini; Patrizia Rizzu; C.M. Duijn; Ben A Oostra; Giuseppe Meco; Peter Heutink
Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset.
Annals of neurology 2002;51(2):253-6.
2002: Ben A Oostra; Rob Willemsen
The X chromosome and fragile X mental retardation.
Cytogenetic and genome research 2002;99(1-4):257-64.
2002: Yann S Mineur; Frans Sluyter; Sanne de Wit; Ben A Oostra; Wim E Crusio
Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse.
Hippocampus 2002;12(1):39-46.
2002: Enza Maria Valente; Francesco Brancati; Alessandro Ferraris; Elizabeth A Graham; Mary B Davis; Monique Breteler; Thomas Gasser; Vincenzo Bonifati; Anna Rita Bentivoglio; Giuseppe De Michele; Alexandra Dürr; Pietro Cortelli; Dietmar Wassilowsky; Biswadjiet S Harhangi; Nina Rawal; Viviana Caputo; Alessandro Filla; Giuseppe Meco; Ben A Oostra; Alexis Brice; Alberto Albanese; Bruno Dallapiccola; Nicholas W Wood
PARK6-linked parkinsonism occurs in several European families.
Annals of neurology 2002;51(1):14-8.
2001: Ben A Oostra; P Chiurazzi
The fragile X gene and its function.
Clinical genetics 2001;60(6):399-408.
2001: Ilse Gantois; Cathy E Bakker; Edwin Reyniers; Rob Willemsen; Rudi D'Hooge; Peter Paul De Deyn; Ben A Oostra; R Frank Kooy
Restoring the phenotype of fragile X syndrome: insight from the mouse model.
Current molecular medicine 2001;1(4):447-55.
2001: R J H Galjaard; N Kostakoglu; Jeannette Hoogeboom; Guido J Breedveld; Herma C van der Linde; Steven E R Hovius; Ben A Oostra; Lodewijk A Sandkuijl; A N Akarsu; Peter Heutink
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
European journal of human genetics : EJHG 2001;9(9):653-8.
2001: C.M. Duijn; Marieke C J Dekker; Vincenzo Bonifati; R J H Galjaard; Jeanine J Houwing-Duistermaat; Pieter J L M Snijders; Leon Testers; Guido J Breedveld; Martin Horstink; Lodewijk A Sandkuijl; John C van Swieten; Ben A Oostra; Peter Heutink
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.
American journal of human genetics 2001;69(3):629-34.
2001: Carola J M Bontekoe; Cathy E Bakker; Ingeborg M Nieuwenhuizen; Herma C van der Linde; H Lans; D de Lange; Mark Hirst; Ben A Oostra
Instability of a (CGG)98 repeat in the Fmr1 promoter.
Human molecular genetics 2001;10(16):1693-9.
2001: Ben A Oostra; Rob Willemsen
Diagnostic tests for fragile X syndrome.
Expert review of molecular diagnostics 2001;1(2):226-32.
2001: Omer T Njajou; Norbert Vaessen; Marijke Joosse; B Berghuis; Jeroen W F van Dongen; Martijn H Breuning; Pieter J L M Snijders; W P Rutten; Lodewijk A Sandkuijl; Ben A Oostra; C.M. Duijn; Peter Heutink
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
Nature genetics 2001;28(3):213-4.
2001: Biswadjiet S Harhangi; Ben A Oostra; Peter Heutink; C.M. Duijn; Albert Hofman; Monique Breteler
CYP2D6 polymorphism in Parkinson's disease: the Rotterdam Study.
Movement disorders : official journal of the Movement Disorder Society 2001;16(2):290-3.
2001: Norbert Vaessen; Peter Heutink; Joop A M J L Janssen; Jacqueline C M Witteman; Leon Testers; Albert Hofman; Steven W J Lamberts; Ben A Oostra; Huibert A P Pols; C.M. Duijn
A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction.
Diabetes 2001;50(3):637-42.
2001: Vincenzo Bonifati; Giuseppe De Michele; Christoph B Lücking; Alexandra Dürr; Edito Fabrizio; G Ambrosio; Nicola Vanacore; Michele De Mari; Roberto Marconi; L Capus; Monique Breteler; Thomas Gasser; Ben A Oostra; Nicholas W Wood; Yves Agid; Alessandro Filla; Giuseppe Meco; Alexis Brice
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2001;22(1):51-2.
2001: Maija Castren; Annakaisa Haapasalo; Ben A Oostra; Eero Castrén
Subcellular localization of fragile X mental retardation protein with the I304N mutation in the RNA-binding domain in cultured hippocampal neurons.
Cellular and molecular neurobiology 2001;21(1):29-38.
2001: R J H Galjaard; L I van der Ham; N A Posch; PF Dijkstra; Ben A Oostra; Steven E R Hovius; E J Timmenga; GJ Sonneveld; A J Hoogeboom; Peter Heutink
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone.
American journal of medical genetics 2001;98(3):256-62.
2001: HC Heus; A J M Luijsterburg; Marijke J van Baren; Guido J Breedveld; Marijke Joosse; Ingeborg M Nieuwenhuizen; Christl Vermeij-Keers; Ben A Oostra; Peter Heutink
Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction.
Mammalian genome : official journal of the International Mammalian Genome Society 2001;12(1):77-9.
2000: Debby Van Dam; Rudi D'Hooge; Esther I Hauben; Edwin Reyniers; Ilse Gantois; Cathy E Bakker; Ben A Oostra; R Frank Kooy; Peter Paul De Deyn
Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice.
Behavioural brain research 2000;117(1-2):127-36.
2000: A M Verwest; M Poelman; Winand N M Dinjens; Manou R Batstra; Ben A Oostra; Maarten H Lequin; L I Larsson; Henk-Jan Aanstoot; G Jan Bruining; Ronald R de Krijger
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis.
Virchows Archiv : an international journal of pathology 2000;437(6):680-4.
2000: P Chiurazzi; Ben A Oostra
Genetics of mental retardation.
Current opinion in pediatrics 2000;12(6):529-35.
2000: Ergül Tunçbilek; M Alikasifoğlu; Dilek Aktas; F Duman; H Yanik; B Anar; Ben A Oostra; Rob Willemsen
Screening for the fragile X syndrome among mentally retarded males by hair root analysis.
American journal of medical genetics 2000;95(2):105-7.
2000: Rob Willemsen; R Olmer; Yolanda De diego Otero; Ben A Oostra
Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype.
Journal of medical genetics 2000;37(8):603-4.
2000: Cathy E Bakker; Yolanda De diego Otero; Carola J M Bontekoe; P Raghoe; T Luteijn; André Hoogeveen; Ben A Oostra; Rob Willemsen
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse.
Experimental cell research 2000;258(1):162-70.
2000: F Tamanini; Laura L Kirkpatrick; Joris Schonkeren; Leontine van Unen; Carola J M Bontekoe; C Bakker; David L Nelson; H Galjaard; Ben A Oostra; André Hoogeveen
The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins.
Human molecular genetics 2000;9(10):1487-93.
2000: R Frank Kooy; Rob Willemsen; Ben A Oostra
Fragile X syndrome at the turn of the century.
Molecular medicine today 2000;6(5):193-8.
2000: Rob Willemsen; Ben A Oostra
FMRP detection assay for the diagnosis of the fragile X syndrome.
American journal of medical genetics 2000;97(3):183-8.
2000: Sebastiano A Musumeci; Paolo Bosco; Giuseppe Calabrese; C Bakker; G B De Sarro; Maurizio Elia; Raffaele Ferri; Ben A Oostra
Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome.
Epilepsia 2000;41(1):19-23.
1999: Pietro Chiurazzi; Maria Grazia Pomponi; Roberta Pietrobono; C E Bakker; Giovanni Neri; Ben A Oostra
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.
Human molecular genetics 1999;8(12):2317-23.
1999: F Tamanini; Leontine van Unen; C Bakker; Nicoletta Sacchi; H Galjaard; Ben A Oostra; André Hoogeveen
Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P.
The Biochemical journal 1999;343 Pt 3():517-23.
1999: Vincenzo Bonifati; Marijke Joosse; David Nicholl; Nicola Vanacore; P Bennett; Patrizia Rizzu; Giovanni Fabbrini; Roberto Marconi; Carlo Colosimo; Nicoletta Locuratolo; Fabrizio Stocchi; Ubaldo Bonuccelli; Michele De Mari; G Wenning; Peter Vieregge; Ben A Oostra; Giuseppe Meco; Peter Heutink
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases.
Neuroscience letters 1999;274(1):61-5.
1999: Biswadjiet S Harhangi; Ben A Oostra; Peter Heutink; C.M. Duijn; Albert Hofman; Monique Breteler
N-acetyltransferase-2 polymorphism in Parkinson's disease: the Rotterdam study.
Journal of neurology, neurosurgery, and psychiatry 1999;67(4):518-20.
1999: S Froelich; Henry Houlden; Patrizia Rizzu; Sumi Chakraverty; Matt Baker; J Kwon; P Nowotny; A Isaacs; V Nowotny; E Wauters; Marijke J van Baren; Ben A Oostra; John Hardy; Lars Lannfelt; Alison Goate; Michael Hutton; Corinne Lendon; Peter Heutink
Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21.
Genomics 1999;60(2):129-36.
1999: Biswadjiet S Harhangi; Matthew J Farrer; Sarah J Lincoln; Vincenzo Bonifati; Giuseppe Meco; Giuseppe De Michele; Alexis Brice; Alexandra Dürr; M Martinez; Thomas Gasser; Benjamin Bereznai; Jenny R Vaughan; Nicholas W Wood; John Hardy; Ben A Oostra; Monique Breteler
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.
Neuroscience letters 1999;270(1):1-4.
1999: R Frank Kooy; Edwin Reyniers; Marleen Verhoye; Jan Sijbers; Cathy E Bakker; Ben A Oostra; Patrick J Willems; Annemie Van der Linden
Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging.
European journal of human genetics : EJHG 1999;7(5):526-32.
1999: Rob Willemsen; B Anar; Yolanda De diego Otero; Bert B A de Vries; Y Hilhorst-Hofstee; A Smits; E van Looveren; Patrick J Willems; H Galjaard; Ben A Oostra
Noninvasive test for fragile X syndrome, using hair root analysis.
American journal of human genetics 1999;65(1):98-103.
1999: Bert B A de Vries; S Mohkamsing; Ans M W van den Ouweland; E Mol; K Gelsema; MA van Rijn; Aad Tibben; D J J Halley; Hugo J Duivenvoorden; Ben A Oostra; Martinus F Niermeijer
Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group.
Journal of medical genetics 1999;36(6):467-70.
1999: Edwin Reyniers; J J Martin; Patrick cras; E Van Marck; I Handig; H Z Jorens; Ben A Oostra; R Frank Kooy; Patrick J Willems
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
American journal of medical genetics 1999;84(3):245-9.
1999: HC Heus; A Hing; Marijke J van Baren; Marijke Joosse; Guido J Breedveld; J C Wang; A Burgess; H Donnis-Keller; C Berglund; J Zguricas; S W Scherer; J M Rommens; Ben A Oostra; Peter Heutink
A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.
Genomics 1999;57(3):342-51.
1999: F Tamanini; Carola J M Bontekoe; Cathy E Bakker; Leontine van Unen; B Anar; Rob Willemsen; M Yoshida; H Galjaard; Ben A Oostra; André Hoogeveen
Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.
Human molecular genetics 1999;8(5):863-9.
1999: Nacer Abbas; Christoph B Lücking; Sylvain Ricard; Alexandra Dürr; Vincenzo Bonifati; Giuseppe De Michele; S Bouley; Jenny R Vaughan; Thomas Gasser; Roberto Marconi; Emmanuel Broussolle; C Brefel-Courbon; Biswadjiet S Harhangi; Ben A Oostra; Edito Fabrizio; G A Böhme; Laurent Pradier; Nicholas W Wood; Alessandro Filla; Giuseppe Meco; Patrice DENEFLE; Yves Agid; Alexis Brice
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Human molecular genetics 1999;8(4):567-74.
1999: A T J M Helderman-van den Enden; P D Maaswinkel-Mooij; E Hoogendoorn; Rob Willemsen; JA Maat-Kievit; Monique Losekoot; Ben A Oostra
Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities.
Journal of medical genetics 1999;36(3):253-7.
1999: Patrizia Rizzu; John C van Swieten; Marijke Joosse; M Hasegawa; M Stevens; Aad Tibben; Martinus F Niermeijer; M Hillebrand; Rivka Ravid; Ben A Oostra; Michel Goedert; C.M. Duijn; Peter Heutink
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands.
American journal of human genetics 1999;64(2):414-21.
1999: J Zguricas; HC Heus; E Morales-Peralta; Guido J Breedveld; B Kuyt; E F Mumcu; W Bakker; N Akarsu; S P Kay; Steven E R Hovius; L Heredero-Baute; Ben A Oostra; Peter Heutink
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.
Journal of medical genetics 1999;36(1):32-40.
1998: Bert B A de Vries; S Mohkamsing; Ans M W van den Ouweland; D J J Halley; Martinus F Niermeijer; Ben A Oostra; Rob Willemsen
Screening with the FMR1 protein test among mentally retarded males.
Human genetics 1998;103(4):520-2.
1998: L B de Vries; Ans M W van den Ouweland; S Mohkamsing; Lodewijk A Sandkuijl; Ben A Oostra; Martinus F Niermeijer
[A large-scale diagnostic program for the fragile X syndrome among the mentally handicapped. I. An epidemiologic survey].
Nederlands tijdschrift voor geneeskunde 1998;142(29):1666-71.
1998: Bert B A de Vries; D J J Halley; Ben A Oostra; Martinus F Niermeijer
The fragile X syndrome.
Journal of medical genetics 1998;35(7):579-89.
1998: O Steward; Cathy E Bakker; Patrick J Willems; Ben A Oostra
No evidence for disruption of normal patterns of mRNA localization in dendrites or dendritic transport of recently synthesized mRNA in FMR1 knockout mice, a model for human fragile-X mental retardation syndrome.
Neuroreport 1998;9(3):477-81.
1998: R Frank Kooy; Ben A Oostra; Patrick J Willems
The fragile X syndrome and other fragile site disorders.
Results and problems in cell differentiation 1998;21():1-46.
1998: Katrien Storm; I Handig; Edwin Reyniers; Ben A Oostra; R Frank Kooy; Patrick J Willems
Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.
Human genetics 1998;102(1):54-6.
1998: K E Slegtenhorst-Eegdeman; Dirk G de Rooij; Miriam Verhoef-Post; Henk J G van de Kant; Cathy E Bakker; Ben A Oostra; J Anton Grootegoed; Axel P N Themmen
Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development.
Endocrinology 1998;139(1):156-62.
1998: Pietro Chiurazzi; Maria Grazia Pomponi; R Willemsen; Ben A Oostra; Giovanni Neri
In vitro reactivation of the FMR1 gene involved in fragile X syndrome.
Human molecular genetics 1998;7(1):109-13.
1998: Agnes G A Bijvoet; E H van de Kamp; Marian A Kroos; J H Ding; Bing-zhi Yang; P Visser; Cathy E Bakker; Martin Ph Verbeet; Ben A Oostra; Arnold J J Reuser; Ans T Van Der Ploeg
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
Human molecular genetics 1998;7(1):53-62.
1997: Ben A Oostra; André Hoogeveen
Animal model for fragile X syndrome.
Annals of medicine 1997;29(6):563-7.
1997: Monique Losekoot; E Hoogendoorn; R Olmer; C C Jansen; Jan C Oosterwijk; Ans M W van den Ouweland; D J J Halley; Stephen Warren; Rob Willemsen; Ben A Oostra; Egbert Bakker
Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.
Journal of medical genetics 1997;34(11):924-6.
1997: Carola J M Bontekoe; Esther de Graaff; Ingeborg M Nieuwenhuizen; Rob Willemsen; Ben A Oostra
FMR1 premutation allele (CGG)81 is stable in mice.
European journal of human genetics : EJHG 1997;5(5):293-8.
1997: Bert B A de Vries; Ans M W van den Ouweland; S Mohkamsing; Hugo J Duivenvoorden; E Mol; K Gelsema; MA van Rijn; D J J Halley; Lodewijk A Sandkuijl; Ben A Oostra; Aad Tibben; Martinus F Niermeijer
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.
American journal of human genetics 1997;61(3):660-7.
1997: F Tamanini; Rob Willemsen; Leontine van Unen; Carola J M Bontekoe; H Galjaard; Ben A Oostra; André Hoogeveen
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.
Human molecular genetics 1997;6(8):1315-22.
1997: André Hoogeveen; Ben A Oostra
The fragile X syndrome.
Journal of inherited metabolic disease 1997;20(2):139-51.
1997: thomas Comery; Jennifer B Harris; P J Willems; Ben A Oostra; Scott Irwin; Ivan Jeanne Weiler; William T Greenough
Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(10):5401-4.
1997: Rob Willemsen; Frans J Los; S Mohkamsing; Ans M W van den Ouweland; Wout Deelen; H Galjaard; Ben A Oostra
Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.
Journal of medical genetics 1997;34(3):250-1.
1997: Rob Willemsen; A Smits; S Mohkamsing; H van Beerendonk; A de Haan; B de Vries; Ans M W van den Ouweland; E Sistermans; H Galjaard; Ben A Oostra
Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.
Human genetics 1997;99(3):308-11.
1997: Peter Heutink; M Stevens; Patrizia Rizzu; E Bakker; Johan M Kros; Aad Tibben; Martinus F Niermeijer; C.M. Duijn; Ben A Oostra; John C van Swieten
Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families.
Annals of neurology 1997;41(2):150-9.
1997: H E Malter; JC Iber; Rob Willemsen; Esther de Graaff; J C Tarleton; J Leisti; Stephen Warren; Ben A Oostra
Characterization of the full fragile X syndrome mutation in fetal gametes.
Nature genetics 1997;15(2):165-9.
1997: Rudi D'Hooge; Guy Nagels; Frieda Franck; Cathy E Bakker; Edwin Reyniers; Katrien Storm; R Frank Kooy; Ben A Oostra; Patrick J Willems; Peter Paul De Deyn
Mildly impaired water maze performance in male Fmr1 knockout mice.
Neuroscience 1997;76(2):367-76.
1996: Bert B A de Vries; C C Jansen; A A Duits; C Verheij; Rob Willemsen; JO van Hemel; Ans M W van den Ouweland; Martinus F Niermeijer; Ben A Oostra; D J J Halley
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.
Journal of medical genetics 1996;33(12):1007-10.
1996: Esther de Graaff; Bert B A de Vries; Rob Willemsen; JO van Hemel; S Mohkamsing; Ben A Oostra; Ans M W van den Ouweland
The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.
American journal of medical genetics 1996;64(2):302-8.
1996: J M Godfraind; Edwin Reyniers; K De Boulle; Rudi D'Hooge; Peter Paul De Deyn; Cathy E Bakker; Ben A Oostra; R Frank Kooy; Patrick J Willems
Long-term potentiation in the hippocampus of fragile X knockout mice.
American journal of medical genetics 1996;64(2):246-51.
1996: R Frank Kooy; Rudi D'Hooge; Edwin Reyniers; Cathy E Bakker; Guy Nagels; K De Boulle; Katrien Storm; G Clincke; Peter Paul De Deyn; Ben A Oostra; Patrick J Willems
Transgenic mouse model for the fragile X syndrome.
American journal of medical genetics 1996;64(2):241-5.
1996: Rob Willemsen; Carola J M Bontekoe; F Tamanini; H Galjaard; André Hoogeveen; Ben A Oostra
Association of FMRP with ribosomal precursor particles in the nucleolus.
Biochemical and biophysical research communications 1996;225(1):27-33.
1996: Pietro Chiurazzi; Giovanni Destro-Bisol; Maurizio Genuardi; Ben A Oostra; Gabriella Spedini; Giovanni Neri
Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population.
American journal of medical genetics 1996;64(1):216-9.
1996: Pietro Chiurazzi; Maurizio Genuardi; L Kozak; Maria Luisa Giovannucci Uzielli; C Bussani; Franca Dagna Bricarelli; M Grasso; Lucia Perroni; Gianfranco Sebastio; Maria Pia Sperandeo; Ben A Oostra; Giovanni Neri
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity.
American journal of medical genetics 1996;64(1):209-15.
1996: Ben C J Hamel; Hannie Kremer; E Wesby-van Swaay; Bellinda van den Helm; Arie P T Smits; Ben A Oostra; Hans-Hilger Ropers; Edwin C M Mariman
A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28.
American journal of medical genetics 1996;64(1):131-3.
1996: J Zguricas; Peter Heutink; L Heredero; J Deurloo; Ben A Oostra; P J Snijders; Dick Lindhout; Steven E R Hovius
Genetic aspects of polydactyly.
Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft für Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft für Mikrochirurgie der Peripheren Nerven und Gefässe : Organ der Vereinigung der Deutschen Plastischen Chirurgen 1996;28(4):171-5.
1996: F Tamanini; N Meijer; C Verheij; Patrick J Willems; H Galjaard; Ben A Oostra; André Hoogeveen
FMRP is associated to the ribosomes via RNA.
Human molecular genetics 1996;5(6):809-13.
1996: Bert B A de Vries; A M Wiegers; Arie P T Smits; S Mohkamsing; Hugo J Duivenvoorden; J P Fryns; L M Curfs; D J J Halley; Ben A Oostra; Ans M W van den Ouweland; Martinus F Niermeijer
Mental status of females with an FMR1 gene full mutation.
American journal of human genetics 1996;58(5):1025-32.
1996: Ben A Oostra
Fragile X syndrome in humans and mice.
Acta geneticae medicae et gemellologiae 1996;45(1-2):93-108.
1996: Edwin Reyniers; D R Van Bockstaele; K De Boulle; R Frank Kooy; Cathy E Bakker; Ben A Oostra; Patrick J Willems
Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice.
Human genetics 1996;97(1):49-50.
1995: Guy Van Camp; P Coucke; Frank Speleman; Nadine Van Roy; E C Beyer; Ben A Oostra; Patrick J Willems
The gene for human gap junction protein connexin37 (GJA4) maps to chromosome 1p35.1, in the vicinity of D1S195.
Genomics 1995;30(2):402-3.
1995: H J M Smeets; Arie P T Smits; C E Verheij; J P Theelen; R Willemsen; I van de Burgt; André Hoogeveen; J C Oosterwijk; Ben A Oostra
Normal phenotype in two brothers with a full FMR1 mutation.
Human molecular genetics 1995;4(11):2103-8.
1995: Ben A Oostra; D J J Halley
Complex behavior of simple repeats: the fragile X syndrome.
Pediatric research 1995;38(5):629-37.
1995: Ben A Oostra; Patrick J Willems
A fragile gene.
BioEssays : news and reviews in molecular, cellular and developmental biology 1995;17(11):941-7.
1995: Bert B A de Vries; H Robinson; I Stolte-Dijkstra; C V Tjon Pian Gi; P F Dijkstra; Jaap van Doorn; D J J Halley; Ben A Oostra; G Turner; Martinus F Niermeijer
General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.
Journal of medical genetics 1995;32(10):764-9.
1995: Esther de Graaff; Rob Willemsen; N Zhong; C E M de Die-Smulders; W T Brown; G Freling; Ben A Oostra
Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.
American journal of human genetics 1995;57(3):609-18.
1995: Peter Heutink; Ben J van de Wetering; Andrew J Pakstis; Roger Kurlan; Paul Sandor; Ben A Oostra; Lodewijk A Sandkuijl
Linkage studies on Gilles de la Tourette syndrome: what is the strategy of choice?
American journal of human genetics 1995;57(2):465-73.
1995: P J Hendriksen; Jos W Hoogerbrugge; Axel P N Themmen; Marcel Koken; Jan H J Hoeijmakers; Ben A Oostra; T van der Lende; J Anton Grootegoed
Postmeiotic transcription of X and Y chromosomal genes during spermatogenesis in the mouse.
Developmental biology 1995;170(2):730-3.
1995: Rob Willemsen; S Mohkamsing; Bert B A de Vries; D Devys; Ans M W van den Ouweland; J L Mandel; H Galjaard; Ben A Oostra
Rapid antibody test for fragile X syndrome.
Lancet 1995;345(8958):1147-8.
1995: C Verheij; Esther de Graaff; Cathy E Bakker; Rob Willemsen; Patrick J Willems; N Meijer; H Galjaard; Arnold J J Reuser; Ben A Oostra; André Hoogeveen
Characterization of FMR1 proteins isolated from different tissues.
Human molecular genetics 1995;4(5):895-901.
1995: Peter Heutink; Christl Vermeij-Keers; Ben A Oostra
The genetic background of craniosynostosis syndromes.
European journal of human genetics : EJHG 1995;3(5):312-23.
1995: Esther de Graaff; P Rouillard; Patrick J Willems; Arie P T Smits; Francois Rousseau; Ben A Oostra
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.
Human molecular genetics 1995;4(1):45-9.
1994: Peter Heutink; T Haitjema; G J Breedveld; Bart Janssen; Lodewijk A Sandkuijl; Carola J M Bontekoe; C J Westerman; Ben A Oostra
Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.
Journal of medical genetics 1994;31(12):933-6.
1994: Monique M P Hermans; Esther de Graaff; Marian A Kroos; S Mohkamsing; B J Eussen; Marijke Joosse; Rob Willemsen; Wim J Kleijer; Ben A Oostra; Arnold J J Reuser
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.
Human molecular genetics 1994;3(12):2213-8.
1994: Ben C J Hamel; Arie P T Smits; Esther de Graaff; Dominique Smeets; F Schoute; B H Eussen; S J Knight; K E Davies; C F Assman-Hulsmans; Ben A Oostra
Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.
American journal of human genetics 1994;55(5):923-31.
1994: Lieve Vits; K De Boulle; Edwin Reyniers; I Handig; J K Darby; Ben A Oostra; Patrick J Willems
Apparent regression of the CGG repeat in FMR1 to an allele of normal size.
Human genetics 1994;94(5):523-6.
1994: J E Parrish; Ben A Oostra; A J Verkerk; Carolyn S (Sue) Richards; J Reynolds; AS Spikes; Lisa Shaffer; David L Nelson
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE.
Nature genetics 1994;8(3):229-35.
1994: Ans M W van den Ouweland; Wout Deelen; C B Kunst; M L Uzielli; David L Nelson; Stephen Warren; Ben A Oostra; D J J Halley
Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.
Human molecular genetics 1994;3(10):1823-7.
1994: Wout Deelen; C Bakker; D J J Halley; Ben A Oostra
Conservation of CGG region in FMR1 gene in mammals.
American journal of medical genetics 1994;51(4):513-6.
1994: Ans M W van den Ouweland; Bert B A de Vries; P L Bakker; Wout Deelen; Esther de Graaff; JO van Hemel; Ben A Oostra; Martinus F Niermeijer; D J J Halley
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.
American journal of medical genetics 1994;51(4):482-5.
1994: D J J Halley; Ans M W van den Ouweland; Wout Deelen; I Verma; Ben A Oostra
Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome.
American journal of medical genetics 1994;51(4):471-3.
1994: Pietro Chiurazzi; Esther de Graaff; J Ng; A J Verkerk; S Wolfson; Gene S Fisch; L Kozak; Giovanni Neri; Ben A Oostra
No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.
American journal of medical genetics 1994;51(4):309-14.
1994: J Zguricas; P J Snijders; Steven E R Hovius; Peter Heutink; Ben A Oostra; Dick Lindhout
Phenotypic analysis of triphalangeal thumb and associated hand malformations.
Journal of medical genetics 1994;31(6):462-7.
1994: H Meijer; Esther de Graaff; D M Merckx; R J Jongbloed; C E M de Die-Smulders; J J M Engelen; J P Fryns; P M Curfs; Ben A Oostra
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
Human molecular genetics 1994;3(4):615-20.
1994: L B De Vries; D J J Halley; Ben A Oostra; Martinus F Niermeijer
The fragile-X syndrome: a growing gene causing familial intellectual disability.
Journal of intellectual disability research : JIDR 1994;38 ( Pt 1)():1-8.
1994: A M Wiegers; L M Curfs; H Meijer; Ben A Oostra; J P Fryns
A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features.
Genetic counseling (Geneva, Switzerland) 1994;5(4):377-80.
1994: Peter Heutink; EM van Schothorst; Andel G L van der Mey; A Bardoel; G Breedveld; J Pertijs; Lodewijk A Sandkuijl; Gert-Jan B van Ommen; Cees J Cornelisse; Ben A Oostra
Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families.
European journal of human genetics : EJHG 1994;2(3):148-58.
1993: S Buyle; Edwin Reyniers; Lieve Vits; K De Boulle; I Handig; Floris L Wuyts; Wout Deelen; D J J Halley; Ben A Oostra; Patrick J Willems
Founder effect in a Belgian-Dutch fragile X population.
Human genetics 1993;92(3):269-72.
1993: Carola J M Bontekoe; Esther de Graaff; G J Breedveld; Ben A Oostra; Peter Heutink
Dinucleotide repeat polymorphism at D11S994 locus.
Human molecular genetics 1993;2(10):1747.
1993: Bert B A de Vries; J P Fryns; M G Butler; F Canziani; E Wesby-van Swaay; JO van Hemel; Ben A Oostra; D J J Halley; Martinus F Niermeijer
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
Journal of medical genetics 1993;30(9):761-6.
1993: C Verheij; Cathy E Bakker; Esther de Graaff; J L M Keulemans; Rob Willemsen; A J Verkerk; H Galjaard; Arnold J J Reuser; André Hoogeveen; Ben A Oostra
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome.
Nature 1993;363(6431):722-4.
1993: Edwin Reyniers; Lieve Vits; K De Boulle; B Van Roy; D Van Velzen; Esther de Graaff; A J Verkerk; H Z Jorens; J K Darby; Ben A Oostra
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.
Nature genetics 1993;4(2):143-6.
1993: Ben A Oostra; P B Jacky; W T Brown; Francois Rousseau
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.
Journal of medical genetics 1993;30(5):410-3.
1993: H F Sleddens; Ben A Oostra; A O Brinkmann; Jan Trapman
Trinucleotide (GGN) repeat polymorphism in the human androgen receptor (AR) gene.
Human molecular genetics 1993;2(4):493.
1993: Monique M P Hermans; L P Svetkey; Ben A Oostra; Y T Chen; Arnold J J Reuser
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.
Genomics 1993;16(1):300-1.
1993: H A Wisselaar; Monique M P Hermans; W J Visser; Marian A Kroos; Ben A Oostra; W Aspden; B Harrison; D J Hetzel; Arnold J J Reuser; Roger Drinkwater
Biochemical genetics of glycogenosis type II in Brahman cattle.
Biochemical and biophysical research communications 1993;190(3):941-7.
1993: Arie P T Smits; J C F M Dreesen; J G Post; Dominique Smeets; C E M de Die-Smulders; T Spaans-van der Bijl; L C P Govaerts; Stephen Warren; Ben A Oostra; BA van Oost
The fragile X syndrome: no evidence for any recent mutations.
Journal of medical genetics 1993;30(2):94-6.
1993: Monique M P Hermans; H A Wisselaar; Marian A Kroos; Ben A Oostra; Arnold J J Reuser
Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.
The Biochemical journal 1993;289 ( Pt 3)():681-6.
1993: Monique M P Hermans; Esther de Graaff; Marian A Kroos; H A Wisselaar; Rob Willemsen; Ben A Oostra; Arnold J J Reuser
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.
The Biochemical journal 1993;289 ( Pt 3)():687-93.
1993: K De Boulle; A J Verkerk; Edwin Reyniers; Lieve Vits; Jan Hendrickx; B Van Roy; F Van den Bos; Esther de Graaff; Ben A Oostra; Patrick J Willems
A point mutation in the FMR-1 gene associated with fragile X mental retardation.
Nature genetics 1993;3(1):31-5.
1993: Monique M P Hermans; Marian A Kroos; Esther de Graaff; Ben A Oostra; Arnold J J Reuser
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
Human mutation 1993;2(4):268-73.
1993: N A van Biezen; R H Lekanne Deprez; A Thijs; Peter Heutink; Ben A Oostra; A H Geurts van Kessel; Ellen C Zwarthoff
Isolation and characterization of 25 unique DNA markers for human chromosome 22.
Genomics 1993;15(1):206-8.
1993: Bert B A de Vries; A M Wiegers; Esther de Graaff; A J Verkerk; JO van Hemel; D J J Halley; J P Fryns; L M Curfs; Martinus F Niermeijer; Ben A Oostra
Mental status and fragile X expression in relation to FMR-1 gene mutation.
European journal of human genetics : EJHG 1993;1(1):72-9.
1992: Patrick J Willems; B Van Roy; K De Boulle; Lieve Vits; Edwin Reyniers; O Beck; J E Dumon; A Verkerk; Ben A Oostra
Segregation of the fragile X mutation from an affected male to his normal daughter.
Human molecular genetics 1992;1(7):511-5.
1992: BA van Oost; Arie P T Smits; J C F M Dreesen; Ans M W van den Ouweland; Ben A Oostra
Validation of linkage-based DNA-diagnosis of fragile X gene carriers with the CGG repeat probe.
American journal of medical genetics 1992;43(1-2):320-7.
1992: Gregory J Riggins; Stephanie L Sherman; Ben A Oostra; James S Sutcliffe; D Feitell; David L Nelson; B A van Oost; A P Smits; F J Ramos; E Pfendner
Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site.
American journal of medical genetics 1992;43(1-2):237-43.
1992: A J Verkerk; B B deVries; Martinus F Niermeijer; Y H Fu; David L Nelson; Stephen Warren; D F Majoor-Krakauer; D J J Halley; Ben A Oostra
Intragenic probe used for diagnostics in fragile X families.
American journal of medical genetics 1992;43(1-2):192-6.
1992: A J Verkerk; Bert H J Eussen; JO van Hemel; Ben A Oostra
Limited size of the fragile X site shown by fluorescence in situ hybridization.
American journal of medical genetics 1992;43(1-2):187-91.
1992: Ben A Oostra; A J Verkerk
The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.
Chromosoma 1992;101(7):381-7.
1992: C J Faust; A J Verkerk; P J Wilson; C P Morris; J J Hopwood; Ben A Oostra; Gail E Herman
Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes.
Genomics 1992;12(4):814-7.
1992: Peter Heutink; Andel G L van der Mey; Lodewijk A Sandkuijl; A P van Gils; A Bardoel; G J Breedveld; Marcel van Vliet; Gert-Jan B van Ommen; Cees J Cornelisse; Ben A Oostra
A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.
Human molecular genetics 1992;1(1):7-10.
1992: H F Sleddens; Ben A Oostra; A O Brinkmann; Jan Trapman
Trinucleotide repeat polymorphism in the androgen receptor gene (AR).
Nucleic acids research 1992;20(6):1427.
1992: Marcel Koken; Elisabeth M E Smit; I Jaspers-Dekker; Ben A Oostra; Anne Hagemeijer; Dirk Bootsma; Jan H J Hoeijmakers
Localization of two human homologs, HHR6A and HHR6B, of the yeast DNA repair gene RAD6 to chromosomes Xq24-q25 and 5q23-q31.
Genomics 1992;12(3):447-53.
1992: JO van Hemel; Bert H J Eussen; E Wesby-van Swaay; Ben A Oostra
Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome.
Human genetics 1992;88(6):661-7.
1992: Peter Heutink; Ben J van de Wetering; G J Breedveld; Ben A Oostra
Genetic study on Tourette syndrome in The Netherlands.
Advances in neurology 1992;58():167-72.
1991: Monique M P Hermans; Esther de Graaff; Marian A Kroos; H A Wisselaar; Ben A Oostra; Arnold J J Reuser
Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.
Biochemical and biophysical research communications 1991;179(2):919-26.
1991: Ben A Oostra; J F de Rijk-van Andel; H J Eussen; JO van Hemel; D J J Halley; Martinus F Niermeijer
DNA analysis in patients with lissencephaly type I and other cortical dysplasias.
American journal of medical genetics 1991;40(3):383-6.
1991: M Pieretti; F P Zhang; Y H Fu; Stephen Warren; Ben A Oostra; CT Caskey; David L Nelson
Absence of expression of the FMR-1 gene in fragile X syndrome.
Cell 1991;66(4):817-22.
1991: J F De Rijk-van Andel; C E Catsman-Berrevoets; D J J Halley; E Wesby-van Swaay; Martinus F Niermeijer; Ben A Oostra
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.
Human genetics 1991;87(4):509-10.
1991: Monique M P Hermans; Marian A Kroos; J van Beeumen; Ben A Oostra; Arnold J J Reuser
Human lysosomal alpha-glucosidase. Characterization of the catalytic site.
The Journal of biological chemistry 1991;266(21):13507-12.
1991: Lies Hoefsloot; Marianne Hoogeveen-Westerveld; Ben A Oostra; Arnold J J Reuser
An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA).
Nucleic acids research 1991;19(3):682.
1991: BA van Oost; Arie P T Smits; J C F M Dreesen; Dominique Smeets; L Perdon; C A van Bennekom; Niklas Dahl; E Bakker; Ben A Oostra
Multipoint linkage analysis of DXS369 and DXS304 in fragile X families.
American journal of medical genetics 1991;38(2-3):328-31.
1991: Ben A Oostra; D F Majoor-Krakauer; JO van Hemel; E Bakker; D F Callen; M Schmidt; BA van Oost
Mapping of a new RFLP marker RN1 (DXS369) close to the fragile site FRAXA on Xq27-q28.
American journal of medical genetics 1991;38(2-3):332-5.
1991: Peter Heutink; L A Sandkuyl; Ben J van de Wetering; Ben A Oostra; J Weber; P Wilkie; E J Devor; Andrew J Pakstis; David L Pauls; K K Kidd
Linkage and Tourette syndrome.
Lancet 1991;337(8733):122-3.
1990: Lies Hoefsloot; Marianne Hoogeveen-Westerveld; Arnold J J Reuser; Ben A Oostra
Characterization of the human lysosomal alpha-glucosidase gene.
The Biochemical journal 1990;272(2):493-7.
1990: Lies Hoefsloot; Rob Willemsen; Marian A Kroos; Marianne Hoogeveen-Westerveld; Monique M P Hermans; Ans T Van Der Ploeg; Ben A Oostra; Arnold J J Reuser
Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.
The Biochemical journal 1990;272(2):485-92.
1990: Lies Hoefsloot; Marianne Hoogeveen-Westerveld; H Sakuraba; Y Suzuki; Ben A Oostra; Arnold J J Reuser
HindIII/EcoRI polymorphism in the GAA gene.
Nucleic acids research 1990;18(19):5921.
1990: Ben A Oostra; L A Sandkuyl; D J J Halley
Risk calculation of missed prenatal diagnosis of fragile-X syndrome.
Prenatal diagnosis 1990;10(8):545-6.
1990: Peter Heutink; Ben J van de Wetering; G J Breedveld; J Weber; L A Sandkuyl; E J Devor; A Heiberg; Martinus F Niermeijer; Ben A Oostra
No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18.
Journal of medical genetics 1990;27(7):433-6.
1990: P E Hupkes; C A van Bennekom; BA van Oost; Ben A Oostra
RN1, a new polymorphic marker near the fragile X locus. (HGM10 assignment DXS 369).
Nucleic acids research 1990;18(3):692.
1990: Lies Hoefsloot; Ans T Van Der Ploeg; Marian A Kroos; Marianne Hoogeveen-Westerveld; Ben A Oostra; Arnold J J Reuser
Adult and infantile glycogenosis type II in one family, explained by allelic diversity.
American journal of human genetics 1990;46(1):45-52.
1990: E J Devor; David K Grandy; Olivier Civelli; M Litt; A K Burgess; Keith E Isenberg; Ben J van de Wetering; Ben A Oostra
Genetic linkage is excluded for the D2-dopamine receptor lambda HD2G1 and flanking loci on chromosome 11q22-q23 in Tourette syndrome.
Human heredity 1990;40(2):105-8.
1990: Ben A Oostra; P E Hupkes; L F Perdon; C A van Bennekom; E Bakker; D J J Halley; M Schmidt; D Du Sart; Arie P T Smits; B Wieringa
New polymorphic DNA marker close to the fragile site FRAXA.
Genomics 1990;6(1):129-32.
1989: N A Datson; P T van der Saag; Ben A Oostra
RFLP for the human retinoic acid receptor gene RAR-beta.
Nucleic acids research 1989;17(21):8897.
1989: D J J Halley; N H van Damme; Wout Deelen; Ben A Oostra; M G Jahoda; E S Sachs; Frans J Los; Martinus F Niermeijer
Prenatal detection of major cystic fibrosis mutation.
Lancet 1989;2(8669):972.
1988: Lies Hoefsloot; Marianne Hoogeveen-Westerveld; Marian A Kroos; J van Beeumen; Arnold J J Reuser; Ben A Oostra
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.
The EMBO journal 1988;7(6):1697-704.
1988: J Morreau; Maarten Sinaasappel; Ben A Oostra; D J J Halley
Cystic fibrosis: screening for a DNA deletion by field inversion gel electrophoresis.
Human genetics 1988;79(1):64-7.
1986: D J J Halley; J Morreau; H J Neijens; E van Swaay; L A Sandkuyl; Ben A Oostra
[Prenatal diagnosis of cystic fibrosis using DNA analysis].
Nederlands tijdschrift voor geneeskunde 1986;130(50):2270-2.