Username

Password

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:

Over 1.500.000 Profiles
More than 1.800 Organizations worldwide
State of the Art Network Visualizations

Manage your own Profile
Locate Experts in your Country/Region
Locate Experts in your 1. and 2. Level Network
Connect to Experts Worldwide

NetworkView

Ben Oostra

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Disorders

Chemicals & Drugs

Concepts & Ideas

Physiology

Living Beings

Geographic Areas

Netherlands

Procedures

Anatomy

X Chromosome

Sign-in to see full Profile

Sign-in to see all Coauthors

Publications

TOP 3
van de Laar Ingrid; Wessels Marja; Frohn-Mulder Ingrid; Dalinghaus Michiel; de Graaf Bianca; van Tienhoven Marianne; van der Moer Paul; Husen-Ebbinge Margreet; Lequin Maarten; Dooijes Dennis; de Krijger Ronald; Oostra Ben A; Bertoli-Avella Aida M
First locus for primary pulmonary vein stenosis maps to chromosome 2q.
van Koolwijk Leonieke M E; Despriet Dominiek D G; Van Duijn Cornelia M; Oostra Ben A; van Swieten John C; de Koning Inge; Klaver Caroline C W; Lemij Hans G
Association of cognitive functioning with retinal nerve fiber layer thickness.
Brusse Esther; Majoor-Krakauer Danielle; de Graaf Bianca M; Visser Gerhard H; Swagemakers Sigrid; Boon Agnita J W; Oostra Ben A; Bertoli-Avella Aida M
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Sign-in to see all Publications

Sign in free and see...

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the visualized research activity
of experts around the globe

Sign-in to see more

Geonetwork of Ben Oostra (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

Sign-in to see more

All Publications

2009: van de Laar Ingrid; Wessels Marja; Frohn-Mulder Ingrid; Dalinghaus Michiel; de Graaf Bianca; van Tienhoven Marianne; van der Moer Paul; Husen-Ebbinge Margreet; Lequin Maarten; Dooijes Dennis; de Krijger Ronald; Oostra Ben A; Bertoli-Avella Aida M
First locus for primary pulmonary vein stenosis maps to chromosome 2q.
European heart journal 2009;30(20):2485-92.
2009: van Koolwijk Leonieke M E; Despriet Dominiek D G; Van Duijn Cornelia M; Oostra Ben A; van Swieten John C; de Koning Inge; Klaver Caroline C W; Lemij Hans G
Association of cognitive functioning with retinal nerve fiber layer thickness.
Investigative ophthalmology & visual science 2009;50(10):4576-80.
2009: Brusse Esther; Majoor-Krakauer Danielle; de Graaf Bianca M; Visser Gerhard H; Swagemakers Sigrid; Boon Agnita J W; Oostra Ben A; Bertoli-Avella Aida M
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
Neurogenetics 2009;10(4):289-97.
2009: Estrada Karol; Krawczak Michael; Schreiber Stefan; van Duijn Kate; Stolk Lisette; van Meurs Joyce B J; Liu Fan; Penninx Brenda W J H; Smit Jan H; Vogelzangs Nicole; Hottenga Jouke Jan; Willemsen Gonneke; de Geus Eco J C; Lorentzon Mattias; von Eller-Eberstein Huberta; Lips Paul; Schoor Natascha; Pop Victor; de Keijzer Jules; Hofman Albert; Aulchenko Yurii S; Oostra Ben A; Ohlsson Claes; Boomsma Dorret I; Uitterlinden Andre G; van Duijn Cornelia M; Rivadeneira Fernando; Kayser Manfred
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: Axenovich Tatiana I; Zorkoltseva I V; Belonogova N M; Struchalin M V; Kirichenko A V; Kayser M; Oostra B A; van Duijn C M; Aulchenko Y S
Linkage analysis of adult height in a large pedigree from a Dutch genetically isolated population.
Human genetics 2009;126(3):457-71.
2009: Brouwer J R; Willemsen R; Oostra B A
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: Van't Padje Sandra; Chaudhry Bill; Severijnen Lies-Anne; van der Linde Herma C; Mientjes Edwin J; Oostra Ben A; Willemsen Rob
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: Levenga Josien; Buijsen Ronald A M; Rifé Maria; Moine Hervé; Nelson David L; Oostra Ben A; Willemsen Rob; de Vrij Femke M S
Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons.
Neurobiology of disease 2009;35(2):241-50.
2009: van der Vegt Esther J M; Oostra Ben A; Arias-Vásquez Alejandro; van der Ende Jan; Verhulst Frank C; Tiemeier Henning
High activity of monoamine oxidase A is associated with externalizing behaviour in maltreated and nonmaltreated adoptees.
Psychiatric genetics 2009;19(4):209-11.
2009: Pattaro Cristian; Aulchenko Yurii S; Isaacs Aaron; Vitart Veronique; Hayward Caroline; Franklin Christopher S; Polasek Ozren; Kolcic Ivana; Biloglav Zrinka; Campbell Susan; Hastie Nick; Lauc Gordan; Meitinger Thomas; Oostra Ben A; Gyllensten Ulf; Wilson James F; Pichler Irene; Hicks Andrew A; Campbell Harry; Wright Alan F; Rudan Igor; van Duijn Cornelia M; Riegler Peter; Marroni Fabio; Pramstaller Peter P;
Genome-wide linkage analysis of serum creatinine in three isolated European populations.
Kidney international 2009;76(3):297-306.
2009: Aulchenko Yurii S; Struchalin Maksim V; Belonogova Nadezhda M; Axenovich Tatiana I; Weedon Michael N; Hofman Albert; Uitterlinden Andre G; Kayser Manfred; Oostra Ben A; van Duijn Cornelia M; Janssens A Cecile J W; Borodin Pavel M
Predicting human height by Victorian and genomic methods.
European journal of human genetics : EJHG 2009;17(8):1070-5.
2009: Hashem Vera; Galloway Jocelyn N; Mori Mayra; Willemsen Rob; Oostra Ben A; Paylor Richard; Nelson David L
Ectopic expression of CGG containing mRNA is neurotoxic in mammals.
Human molecular genetics 2009;18(13):2443-51.
2009: Amin Najaf; Aulchenko Yuri S; Dekker Marieke C; Ferdinand Robert F; van Spreeken Alwin; Temmink Alfons H; Verhulst Frank C; Oostra Ben A; van Duijn Cornelia M
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: Oostra Ben A; Willemsen Rob
FMR1: a gene with three faces.
Biochimica et biophysica acta 2009;1790(6):467-77.
2009: Ikram M Arfan; Liu Fan; Oostra Ben A; Hofman Albert; van Duijn Cornelia M; Breteler Monique M B
The GAB2 gene and the risk of Alzheimer's disease: replication and meta-analysis.
Biological psychiatry 2009;65(11):995-9.
2009: Janssens A Cecile J W; González-Zuloeta Ladd Angela M; López-Léon Sandra; Ioannidis John P A; Oostra Ben A; Khoury Muin J; van Duijn Cornelia M
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: Despriet Dominiek D G; van Duijn Cornelia M; Oostra Ben A; Uitterlinden Andre G; Hofman Albert; Wright Alan F; ten Brink Jacoline B; Bakker Arne; de Jong Paulus T V M; Vingerling Johannes R; Bergen Arthur A B; Klaver Caroline C W
Complement component C3 and risk of age-related macular degeneration.
Ophthalmology 2009;116(3):474-480.e2.
2009: Berends A L; Zillikens M C; de Groot C J M; Rivadeneira F; Oostra B A; van Duijn C M; Steegers E A P
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: Savoia Anna; Noris Patrizia; Perrotta Silverio; Punzo Francesca; Rocco Daniela De; Oostra Ben A; Balduini Carlo L
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin.
Platelets 2009;20(1):72-3.
2009: Choy Wing Chi; López-León Sandra; Aulchenko Yurii S; Mackenbach Johan P; Oostra Ben A; van Duijn Cornelia M; Janssens A Cecile J W
Role of shared genetic and environmental factors in symptoms of depression and body composition.
Psychiatric genetics 2009;19(1):32-8.
2009: Pilpel Yair; Kolleker Aleksander; Berberich Sven; Ginger Melanie; Frick Andreas; Mientjes Edwin; Oostra Ben A; Seeburg Peter H
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: Brouwer Judith R; Willemsen Rob; Oostra Ben A
Microsatellite repeat instability and neurological disease.
BioEssays : news and reviews in molecular, cellular and developmental biology 2009;31(1):71-83.
2009: Di Fonzo A; Dekker M C J; Montagna P; Baruzzi A; Yonova E H; Correia Guedes L; Szczerbinska A; Zhao T; Dubbel-Hulsman L O M; Wouters C H; de Graaff E; Oyen W J G; Simons E J; Breedveld G J; Oostra B A; Horstink M W; Bonifati V
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.
Neurology 2009;72(3):240-5.
2009: Lodder Elisabeth M; Eussen Bert H; van Hassel Daniëlla A C M; Hoogeboom A Jeannette M; Poddighe Pino J; Coert J Henk; Oostra Ben A; de Klein Annelies; de Graaff Esther
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: Liu Fan; Ikram M Arfan; Janssens A Cecile J W; Schuur Maaike; de Koning Inge; Isaacs Aaron; Struchalin Maksim; Uitterlinden Andre G; den Dunnen Johan T; Sleegers Kristel; Bettens Karolien; Van Broeckhoven Christine; van Swieten John; Hofman Albert; Oostra Ben A; Aulchenko Yurii S; Breteler Monique M B; van Duijn Cornelia M
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: López-León Sandra; Choy Wing Chi; Aulchenko Yurii S; Claes Stephan J; Oostra Ben A; Mackenbach Johan P; van Duijn Cornelia M; Janssens A Cecile J W
Genetic factors influence the clustering of depression among individuals with lower socioeconomic status.
PloS one 2009;4(3):e5069.
2008: Aulchenko Yurii S; Hoppenbrouwers Ilse A; Ramagopalan Sreeram V; Broer Linda; Jafari Naghmeh; Hillert Jan; Link Jenny; Lundström Wangko; Greiner Eva; Dessa Sadovnick A; Goossens Dirk; Van Broeckhoven Christine; Del-Favero Jurgen; Ebers George C; Oostra Ben A; van Duijn Cornelia M; Hintzen Rogier Q
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis.
Nature genetics 2008;40(12):1402-3.
2008: Cavallaro Sebastiano; Paratore Sabrina; Fradale Francesco; de Vrij Femke M S; Willemsen Rob; Oostra Ben A
Genes and pathways differentially expressed in the brains of Fxr2 knockout mice.
Neurobiology of disease 2008;32(3):510-20.
2008: Zillikens M C; Yazdanpanah M; Pardo L M; Rivadeneira F; Aulchenko Y S; Oostra B A; Uitterlinden A G; Pols H A P; van Duijn C M
Sex-specific genetic effects influence variation in body composition.
Diabetologia 2008;51(12):2233-41.
2008: Oldenburg R A; van Dooren M F; de Graaf B; Simons E; Govaerts L; Swagemakers S; Verkerk J M H; Oostra B A; Bertoli-Avella A M
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: Berends Anne L; Steegers Eric A; Isaacs Aaron; Aulchenko Y S; Liu Fan; de Groot Christianne J; Oostra Ben A; van Duijn Cornelia M
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: van Hoek Mandy; Dehghan Abbas; Witteman Jacqueline C M; van Duijn Cornelia M; Uitterlinden André G; Oostra Ben A; Hofman Albert; Sijbrands Eric J G; Janssens A Cecile J W
Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
Diabetes 2008;57(11):3122-8.
2008: Lu Chin-Song; Wu-Chou Yah-Huei; van Doeselaar Marina; Simons Erik J; Chang Hsiu-Chen; Breedveld Guido J; Di Fonzo Alessio; Chen Rou-Shayn; Weng Yi-Hsin; Lai Szu-Chia; Oostra Ben A; Bonifati Vincenzo
The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population.
Neurogenetics 2008;9(4):271-6.
2008: Smit A E; van der Geest J N; Vellema M; Koekkoek S K E; Willemsen R; Govaerts L C P; Oostra B A; De Zeeuw C I; VanderWerf F
Savings and extinction of conditioned eyeblink responses in fragile X syndrome.
Genes, brain, and behavior 2008;7(7):770-7.
2008: Bliek Bart J B; Steegers-Theunissen Régine P M; Blok Leen J; Santegoets Lindy A M; Lindemans Jan; Oostra Ben A; Steegers Eric A P; de Klein Annelies
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: Henneman P; Aulchenko Y S; Frants R R; van Dijk K W; Oostra B A; van Duijn C M
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: López-León Sandra; Janssens A Cecile J W; Tiemeier Henning; Hofman Albert; Aulchenko Yurii S; Snijders Pieter J L M; Claes Stephan; Oostra Ben A; van Duijn Cornelia M
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: López-León S; Janssens A C J W; González-Zuloeta Ladd A M; Del-Favero J; Claes S J; Oostra B A; van Duijn C M
Meta-analyses of genetic studies on major depressive disorder.
Molecular psychiatry 2008;13(8):772-85.
2008: Zhang Jing; Fang Zhe; Jud Corinne; Vansteensel Mariska J; Kaasik Krista; Lee Cheng Chi; Albrecht Urs; Tamanini Filippo; Meijer Johanna H; Oostra Ben A; Nelson David L
Fragile X-related proteins regulate mammalian circadian behavioral rhythms.
American journal of human genetics 2008;83(1):43-52.
2008: de Vrij Femke M S; Levenga Josien; van der Linde Herma C; Koekkoek Sebastiaan K; De Zeeuw Chris I; Nelson David L; Oostra Ben A; Willemsen Rob
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice.
Neurobiology of disease 2008;31(1):127-32.
2008: Brouwer J R; Severijnen E; de Jong F H; Hessl D; Hagerman R J; Oostra B A; Willemsen R
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: Arias-Vásquez Alejandro; Aulchenko Yurii S; Isaacs Aaron; van Oosterhout Andy; Sleegers Kristels; Hofman Albert; van Broeckhoven Christine; Oostra Ben A; Breteler Monique; van Duijn Cornelia M
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: Berends Anne L; de Groot Christianne J M; Sijbrands Eric J; Sie Mark P S; Benneheij Sofie H; Pal Richard; Heydanus Roger; Oostra Ben A; van Duijn Cornelia M; Steegers Eric A P
Shared constitutional risks for maternal vascular-related pregnancy complications and future cardiovascular disease.
Hypertension 2008;51(4):1034-41.
2008: Bertoli-Avella Aida M; Conte Maria Luisa; Punzo Francesca; de Graaf Bianca M; Lama Giuliana; La Manna Angela; Polito Cesare; Grassia Carolina; Nobili Bruno; Rambaldi Pier Francesco; Oostra Ben A; Perrotta Silverio
ROBO2 gene variants are associated with familial vesicoureteral reflux.
Journal of the American Society of Nephrology : JASN 2008;19(4):825-31.
2008: Conte Maria Luisa; Bertoli-Avella Aida M; de Graaf Bianca M; Punzo Francesca; Lama Giuliana; La Manna Angela; Grassia Carolina; Rambaldi Pier Francesco; Oostra Ben A; Perrotta Silverio
A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.
Pediatric nephrology (Berlin, Germany) 2008;23(4):587-95.
2008: Hoppenbrouwers Ilse A; Liu Fan; Aulchenko Yurii S; Ebers George C; Oostra Ben A; van Duijn Cornelia M; Hintzen Rogier Q
Maternal transmission of multiple sclerosis in a dutch population.
Archives of neurology 2008;65(3):345-8.
2008: Janssens A Cecile J W; Gwinn Marta; Bradley Linda A; Oostra Ben A; van Duijn Cornelia M; Khoury Muin J
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: Kayser Manfred; Liu Fan; Janssens A Cecile J W; Rivadeneira Fernando; Lao Oscar; van Duijn Kate; Vermeulen Mark; Arp Pascal; Jhamai Mila M; van Ijcken Wilfred F J; den Dunnen Johan T; Heath Simon; Zelenika Diana; Despriet Dominiek D G; Klaver Caroline C W; Vingerling Johannes R; de Jong Paulus T V M; Hofman Albert; Aulchenko Yurii S; Uitterlinden Andre G; Oostra Ben A; van Duijn Cornelia M
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: Wessels Marja W; De Graaf Bianca M; Cohen-Overbeek Titia E; Spitaels Silja E; de Groot-de Laat Lotte E; Ten Cate Folkert J; Frohn-Mulder Ingrid F M; de Krijger Ronald; Bartelings Margot M; Essed Nienke; Wladimiroff Jury W; Niermeijer Martinus F; Heutink Peter; Oostra Ben A; Dooijes Dennis; Bertoli-Avella Aida M; Willems Patrick J
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.
2008: Dehghan Abbas; van Hoek Mandy; Sijbrands Eric J G; Oostra Ben A; Hofman Albert; van Duijn Cornelia M; Witteman Jacqueline C M
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.
2007: Aulchenko Yurii S; Pullen Jan; Kloosterman Wigard P; Yazdanpanah Mojgan; Hofman Albert; Vaessen Norbert; Snijders Pieter J L M; Zubakov Dmitry; Mackay Ian; Olavesen Mark; Sidhu Balbinder; Smith Vicki E; Carey Alisoun; Berezikov Eugene; Uitterlinden André G; Plasterk Ronald H A; Oostra Ben A; van Duijn Cornelia M
LPIN2 is associated with type 2 diabetes, glucose metabolism, and body composition.
Diabetes 2007;56(12):3020-6.
2007: Fabbrini Giovanni; Pasquini Massimo; Aurilia Cinzia; Berardelli Isabella; Breedveld Guido; Oostra Ben A; Bonifati Vincenzo; Berardelli Alfredo
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: van Rijn M J E; Bos M J; Isaacs A; Yazdanpanah M; Arias-Vásquez A; Stricker B H Ch; Klungel O H; Oostra B A; Koudstaal P J; Witteman J C; Hofman A; Breteler M M B; van Duijn C M
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: Berends A L; Bertoli-Avella A M; de Groot C J M; van Duijn C M; Oostra B A; Steegers E A P
STOX1 gene in pre-eclampsia and intrauterine growth restriction.
BJOG : an international journal of obstetrics and gynaecology 2007;114(9):1163-7.
2007: Arias-Vásquez Alejandro; de Lau Lonneke; Pardo Luba; Liu Fan; Feng Bing-Jian; Bertoli-Avella Aida; Isaacs Aaron; Aulchenko Yurii; Hofman Albert; Oostra Ben; Breteler Monique; van Duijn Cornelia
Relationship of the Ubiquilin 1 gene with Alzheimer's and Parkinson's disease and cognitive function.
Neuroscience letters 2007;424(1):1-5.
2007: Govaerts L C P; Smit A E; Saris J J; VanderWerf F; Willemsen R; Bakker C E; De Zeeuw C I; Oostra B A
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: van Koolwijk Leonieke M E; Despriet Dominiek D G; van Duijn Cornelia M; Pardo Cortes Luba M; Vingerling Johannes R; Aulchenko Yurii S; Oostra Ben A; Klaver Caroline C W; Lemij Hans G
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: Arias-Vásquez Alejandro; Isaacs Aaron; Aulchenko Yurii S; Hofman Albert; Oostra Ben A; Breteler Monique; van Duijn Cornelia M
The cholesteryl ester transfer protein (CETP) gene and the risk of Alzheimer's disease.
Neurogenetics 2007;8(3):189-93.
2007: Liu Fan; Arias-Vásquez Alejandro; Sleegers Kristel; Aulchenko Yurii S; Kayser Manfred; Sanchez-Juan Pascual; Feng Bing-Jian; Bertoli-Avella Aida M; van Swieten John; Axenovich Tatiana I; Heutink Peter; van Broeckhoven Christine; Oostra Ben A; van Duijn Cornelia M
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: Yazdanpanah Mojgan; Aulchenko Yuri S; Hofman Albert; Janssen Joop A M J L; Sayed-Tabatabaei Fakhredin A; van Schaik Ron H N; Klungel Olaf H; Stricker Bruno H C H; Pols Huibert A P; Witteman Jacqueline C M; Lamberts Steven W J; Oostra Ben A; van Duijn Cornelia M
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: Isaacs Aaron; Aulchenko Yurii S; Hofman Albert; Sijbrands Eric J G; Sayed-Tabatabaei Fakhredin A; Klungel Olaf H; Maitland-van der Zee Anke-Hilse; Stricker Bruno H Ch; Oostra Ben A; Witteman Jacqueline C M; van Duijn Cornelia M
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: Isaacs Aaron; Sayed-Tabatabaei Fakhredin A; Hofman Albert; Oostra Ben A; Klungel Olaf H; Maitland-Vander Zee Anke-Hilse; Stricker Bruno H Ch; Witteman Jacqueline C M; van Duijn Cornelia M
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: Ferreira Joaquim J; Guedes Leonor Correia; Rosa Mário Miguel; Coelho Miguel; van Doeselaar Marina; Schweiger Dorothea; Di Fonzo Alessio; Oostra Ben A; Sampaio Cristina; Bonifati Vincenzo
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: Di Fonzo A; Chien H F; Socal M; Giraudo S; Tassorelli C; Iliceto G; Fabbrini G; Marconi R; Fincati E; Abbruzzese G; Marini P; Squitieri F; Horstink M W; Montagna P; Libera A Dalla; Stocchi F; Goldwurm S; Ferreira J J; Meco G; Martignoni E; Lopiano L; Jardim L B; Oostra B A; Barbosa E R; Bonifati V
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
Neurology 2007;68(19):1557-62.
2007: Sleegers K; de Koning I; Aulchenko Y S; van Rijn M J E; Houben M P W A; Croes E A; van Swieten J C; Oostra B A; van Duijn C M
Cerebrovascular risk factors do not contribute to genetic variance of cognitive function: the ERF study.
Neurobiology of aging 2007;28(5):735-41.
2007: Grünewald Anne; Breedveld Guido J; Lohmann-Hedrich Katja; Rohé Christan F; König Inke R; Hagenah Johann; Vanacore Nicola; Meco Giuseppe; Antonini Angelo; Goldwurm Stefano; Lesage Suzanne; Dürr Alexandra; Binkofski Ferdinand; Siebner Hartwig; Münchau Alexander; Brice Alexis; Oostra Ben A; Klein Christine; Bonifati Vincenzo
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
Neurogenetics 2007;8(2):103-9.
2007: van Rijn Marie Josee E; Schut Anna F C; Aulchenko Yurii S; Deinum Jaap; Sayed-Tabatabaei Fakhredin A; Yazdanpanah Mojgan; Isaacs Aaron; Axenovich Tatiana I; Zorkoltseva Irina V; Zillikens M Carola; Pols Huib A P; Witteman Jacqueline C M; Oostra Ben A; van Duijn Cornelia M
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: Cossu Giovanni; van Doeselaar Marina; Deriu Marcello; Melis Maurizio; Molari Andrea; Di Fonzo Alessio; Oostra Ben A; Bonifati Vincenzo
LRRK2 mutations and Parkinson's disease in Sardinia--A Mediterranean genetic isolate.
Parkinsonism & related disorders 2007;13(1):17-21.
2007: Hoppenbrouwers I A; Cortes L M Pardo; Aulchenko Y S; Sintnicolaas K; Njajou O; Snijders P J L M; Oostra B A; van Duijn C M; Hintzen R Q
Familial clustering of multiple sclerosis in a Dutch genetic isolate.
Multiple sclerosis (Houndmills, Basingstoke, England) 2007;13(1):17-24.
2007: Brouwer J R; Mientjes E J; Bakker C E; Nieuwenhuizen I M; Severijnen L A; Van der Linde H C; Nelson D L; Oostra B A; Willemsen R
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: Musumeci Sebastiano A; Calabrese Giuseppe; Bonaccorso Carmela M; D'Antoni Simona; Brouwer Judith R; Bakker Cathy E; Elia Maurizio; Ferri Raffaele; Nelson David L; Oostra Ben A; Catania Maria Vincenza
Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes.
Experimental neurology 2007;203(1):233-40.
2007: Isaacs Aaron; Sayed-Tabatabaei Fakhredin A; Aulchenko Yurii S; Zillikens M Carola; Sijbrands Eric J G; Schut Anna F C; Rutten Wim P F; Pols Huibert A P; Witteman Jacqueline C M; Oostra Ben A; van Duijn Cornelia M
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.
2006: Yazdanpanah Mojgan; Sayed-Tabatabaei Fakhredin A; Hofman Albert; Aulchenko Yurii S; Oostra Ben A; Stricker Bruno H C; Pols Huibert A P; Lamberts Steven W J; Witteman Jacqueline C M; Janssen Joop A M J L; van Duijn Cornelia M
The alpha-adducin gene is associated with macrovascular complications and mortality in patients with type 2 diabetes.
Diabetes 2006;55(10):2922-7.
2006: Verkerk A J M H; Cath D C; van der Linde H C; Both J; Heutink P; Breedveld G; Aulchenko Y S; Oostra B A
Genetic and clinical analysis of a large Dutch Gilles de la Tourette family.
Molecular psychiatry 2006;11(10):954-64.
2006: Goldwurm Stefano; Zini Michela; Di Fonzo Alessio; De Gaspari Danilo; Siri Chiara; Simons Erik J; van Doeselaar Marina; Tesei Silvana; Antonini Angelo; Canesi Margherita; Zecchinelli Anna; Mariani Claudio; Meucci Nicoletta; Sacilotto Giorgio; Cilia Roberto; Isaias Ioannis U; Bonetti A; Sironi Francesca; Ricca Sara; Oostra Ben A; Bonifati Vincenzo; Pezzoli Gianni
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: Bergink Steven; Severijnen Lies-Anne; Wijgers Nils; Sugasawa Kaoru; Yousaf Humaira; Kros Johan M; van Swieten John; Oostra Ben A; Hoeijmakers Jan H; Vermeulen Wim; Willemsen Rob
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: Despriet Dominiek D G; Klaver Caroline C W; Witteman Jacqueline C M; Bergen Arthur A B; Kardys Isabella; de Maat Moniek P M; Boekhoorn Sharmila S; Vingerling Johannes R; Hofman Albert; Oostra Ben A; Uitterlinden André G; Stijnen Theo; van Duijn Cornelia M; de Jong Paulus T V M
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: Brooks A S; Leegwater P A; Burzynski G M; Willems P J; de Graaf B; van Langen I; Heutink P; Oostra B A; Hofstra R M W; Bertoli-Avella A M
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.
Journal of medical genetics 2006;43(7):e35.
2006: Di Fonzo Alessio; Wu-Chou Yah-Huei; Lu Chin-Song; van Doeselaar Marina; Simons Erik J; Rohé Christan F; Chang Hsiu-Chen; Chen Rou-Shayn; Weng Yi-Hsin; Vanacore Nicola; Breedveld Guido J; Oostra Ben A; Bonifati Vincenzo
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.
Neurogenetics 2006;7(3):133-8.
2006: Spencer Corinne M; Serysheva Ekaterina; Yuva-Paylor Lisa A; Oostra Ben A; Nelson David L; Paylor Richard
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: Breedveld G; de Coo I F; Lequin M H; Arts W F M; Heutink P; Gould D B; John S W M; Oostra B; Mancini G M S
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
Journal of medical genetics 2006;43(6):490-5.
2006: Sayed-Tabatabaei F A; Oostra B A; Isaacs A; van Duijn C M; Witteman J C M
ACE polymorphisms.
Circulation research 2006;98(9):1123-33.
2006: Kardys Isabella; Klaver Caroline C W; Despriet Dominiek D G; Bergen Arthur A B; Uitterlinden André G; Hofman Albert; Oostra Ben A; Van Duijn Cornelia M; de Jong Paulus T V M; Witteman Jacqueline C M
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: Santos R L P; Zillikens M C; Rivadeneira F R; Pols H A P; Oostra B A; van Duijn C M; Aulchenko Y S
Heritability of fasting glucose levels in a young genetically isolated population.
Diabetologia 2006;49(4):667-72.
2006: Bertoli-Avella Aida M; Dekker Marieke C J; Aulchenko Yurii S; Houwing-Duistermaat Jeanine J; Simons Erik; Testers Leon; Pardo Luba M; Rademaker Tessa A M; Snijders Pieter J L M; van Swieten John C; Bonifati Vincenzo; Heutink Peter; van Duijn Cornelia M; Oostra Ben A
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: Chien Hsin F; Rohé Christan F; Costa Maria D L; Breedveld Guido J; Oostra Ben A; Barbosa Egberto R; Bonifati Vincenzo
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: Mientjes E J; Nieuwenhuizen I; Kirkpatrick L; Zu T; Hoogeveen-Westerveld M; Severijnen L; Rifé M; Willemsen R; Nelson D L; Oostra B A
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: Brusse Esther; de Koning Inge; Maat-Kievit Anneke; Oostra Ben A; Heutink Peter; van Swieten John C
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: Reis Surya A; Oostra Ben A; Willemsen Rob
Isolation of mouse neuritic mRNAs.
Journal of molecular histology 2006;37(1-2):79-86.
2006: Njajou O T; Alizadeh B Z; Aulchenko Y; Zillikens M C; Pols H A P; Oostra B A; Swinkels D W; van Duijn C M
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.
2005: Mulders Annemarie G M; ten Kate-Booij Marianne; Pal Richard; De Kruif Marjolijn; Nekrui Lizka; Oostra Ben A; Fauser Bart C J M; Laven Joop S E
Influence of oral contraceptive pills on phenotype expression in women with polycystic ovary syndrome.
Reproductive biomedicine online 2005;11(6):690-6.
2005: Castrén Maija; Tervonen Topi; Kärkkäinen Virve; Heinonen Seppo; Castrén Eero; Larsson Kim; Bakker Cathy E; Oostra Ben A; Akerman Karl
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: Lu Chin-Song; Simons Erik J; Wu-Chou Yah-Huei; Fonzo Alessio Di; Chang Hsiu-Chen; Chen Rou-Shayn; Weng Yi-Hsin; Rohé Christan F; Breedveld Guido J; Hattori Nobutaka; Gasser Thomas; Oostra Ben A; Bonifati Vincenzo
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: Goldwurm S; Di Fonzo A; Simons E J; Rohé C F; Zini M; Canesi M; Tesei S; Zecchinelli A; Antonini A; Mariani C; Meucci N; Sacilotto G; Sironi F; Salani G; Ferreira J; Chien H F; Fabrizio E; Vanacore N; Dalla Libera A; Stocchi F; Diroma C; Lamberti P; Sampaio C; Meco G; Barbosa E; Bertoli-Avella A M; Breedveld G J; Oostra B A; Pezzoli G; Bonifati V
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: Sayed-Tabatabaei F A; van Rijn M J E; Schut A F C; Aulchenko Y S; Croes E A; Zillikens M C; Pols H A P; Witteman J C M; Oostra B A; van Duijn C M
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: van Rijn M J E; Slooter A J C; Schut A F C; Isaacs A; Aulchenko Y S; Snijders P J L M; Kappelle L J; van Swieten J C; Oostra B A; van Duijn C M
Familial aggregation, the PDE4D gene, and ischemic stroke in a genetically isolated population.
Neurology 2005;65(8):1203-9.
2005: Giuffrida Raffaella; Musumeci Sebastiano; D'Antoni Simona; Bonaccorso Carmela Maria; Giuffrida-Stella Anna Maria; Oostra Ben A; Catania Maria Vincenza
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: Willemsen Rob; Mientjes Edwin; Oostra Ben A
FXTAS: a progressive neurologic syndrome associated with Fragile X premutation.
Current neurology and neuroscience reports 2005;5(5):405-10.
2005: Restivo Leonardo; Ferrari Francesca; Passino Enrica; Sgobio Carmelo; Bock Jörg; Oostra Ben A; Bagni Claudia; Ammassari-Teule Martine
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: Koekkoek S K E; Yamaguchi K; Milojkovic B A; Dortland B R; Ruigrok T J H; Maex R; De Graaf W; Smit A E; VanderWerf F; Bakker C E; Willemsen R; Ikeda T; Kakizawa S; Onodera K; Nelson D L; Mientjes E; Joosten M; De Schutter E; Oostra B A; Ito M; De Zeeuw C I
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: Martinez Maria; Brice Alexis; Vaughan Jenny R; Zimprich Alexander; Breteler Monique M B; Meco Giuseppe; Filla Alessandro; Farrer Matthew J; Bétard Christine; Singleton Andrew; Hardy John; De Michele Giuseppe; Bonifati Vincenzo; Oostra Ben A; Gasser Thomas; Wood Nick W; Dürr Alexandra
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: Brooks Alice S; Bertoli-Avella Aida M; Burzynski Grzegorz M; Breedveld Guido J; Osinga Jan; Boven Ludolf G; Hurst Jane A; Mancini Grazia M S; Lequin Maarten H; de Coo Rene F; Matera Ivana; de Graaff Esther; Meijers Carel; Willems Patrick J; Tibboel Dick; Oostra Ben A; Hofstra Robert M W
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: Van Dam Debby; Errijgers Vanessa; Kooy R Frank; Willemsen Rob; Mientjes Edwin; Oostra Ben A; De Deyn Peter Paul
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: Pardo L M; MacKay Ian; Oostra Ben; van Duijn Cornelia M; Aulchenko Yurii S
The effect of genetic drift in a young genetically isolated population.
Annals of human genetics 2005;69(Pt 3):288-95.
2005: Klaassens M; van Dooren M; Eussen H J; Douben H; den Dekker A T; Lee C; Donahoe P K; Galjaard R J; Goemaere N; de Krijger R R; Wouters C; Wauters J; Oostra B A; Tibboel D; de Klein A
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: Tabolacci Elisabetta; Pietrobono Roberta; Moscato Umberto; Oostra Ben A; Chiurazzi Pietro; Neri Giovanni
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: van 't Padje Sandra; Engels Bart; Blonden Lau; Severijnen Lies-Anne; Verheijen Frans; Oostra Ben A; Willemsen Rob
Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene.
Development genes and evolution 2005;215(4):198-206.
2005: Di Fonzo Alessio; Rohé Christan F; Ferreira Joaquim; Chien Hsin F; Vacca Laura; Stocchi Fabrizio; Guedes Leonor; Fabrizio Edito; Manfredi Mario; Vanacore Nicola; Goldwurm Stefano; Breedveld Guido; Sampaio Cristina; Meco Giuseppe; Barbosa Egberto; Oostra Ben A; Bonifati Vincenzo;
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
Lancet 2005;365(9457):412-5.
2005: Tervonen Topi; Akerman Karl; Oostra Ben A; Castrén Maija
Rgs4 mRNA expression is decreased in the brain of Fmr1 knockout mouse.
Brain research. Molecular brain research 2005;133(1):162-5.
2005: Brooks A S; Oostra B A; Hofstra R M W
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.
Clinical genetics 2005;67(1):6-14.
2005: Pietrobono Roberta; Tabolacci Elisabetta; Zalfa Francesca; Zito Ilaria; Terracciano Alessandra; Moscato Umberto; Bagni Claudia; Oostra Ben; Chiurazzi Pietro; Neri Giovanni
Molecular dissection of the events leading to inactivation of the FMR1 gene.
Human molecular genetics 2005;14(2):267-77.
2005: Croes Esther A; El Galta Rachid; Houwing-Duistermaat Jeanine J; Ferdinand Robert F; López León Sandra; Rademaker Tessa A M; Dekker Marieke C J; Oostra Ben A; Verhulst Frank; Van Duijn Cornelia M
Phenotypic subtypes in attention deficit hyperactivity disorder in an isolated population.
European journal of epidemiology 2005;20(9):789-94.
2005: Blonden Lau; van 't Padje Sandra; Severijnen Lies-Anne; Destree Olivier; Oostra Ben A; Willemsen Rob
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.
2004: Martinez M; Brice A; Vaughan J R; Zimprich A; Breteler M M B; Meco G; Filla A; Farrer M J; Bétard C; Hardy J; De Michele G; Bonifati V; Oostra B; Gasser T; Wood N W; Dürr A;
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: Dekker M C J; Eshuis S A; Maguire R P; Veenma-van der Duijn L; Pruim J; Snijders P J L M; Oostra B A; van Duijn C M; Leenders K L
PET neuroimaging and mutations in the DJ-1 gene.
Journal of neural transmission (Vienna, Austria : 1996) 2004;111(12):1575-81.
2004: Arias Vásquez Alejandro; Sleegers Kristel; Dekker Marieke C J; van Gool Willem A; van Swieten John C; Aulchenko Yurii S; Oostra Ben A; van Duijn Cornelia M
A deletion in DJ-1 and the risk of dementia--a population-based survey.
Neuroscience letters 2004;372(3):196-9.
2004: Stoyanova Violeta; Rossetti Stefano; VAN Unen Leontine; Oostra Ben A; Hoogeveen André T
Loss of FMR1 hypermethylation in somatic cell heterokaryons.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2004;18(15):1964-6.
2004: Breedveld G J; van Wetten B; te Raa G D; Brusse E; van Swieten J C; Oostra B A; Maat-Kievit J A
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: Schrier Mariëtte; Severijnen Lies-Anne; Reis Surya; Rife Maria; van't Padje Sandra; van Cappellen Gert; Oostra Ben A; Willemsen Rob
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: Dekker Marieke C J; Galjaard R J H; Snijders P J L M; Heutink P; Oostra B A; van Duijn C M
Brachydactyly and short stature in a kindred with early-onset parkinsonism.
American journal of medical genetics. Part A 2004;130A(1):102-4.
2004: Rohé Christan F; Montagna Pasquale; Breedveld Guido; Cortelli Pietro; Oostra Ben A; Bonifati Vincenzo
Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism.
Annals of neurology 2004;56(3):427-31.
2004: Engels Bart; van 't Padje Sandra; Blonden Lau; Severijnen Lies-Anne; Oostra Ben A; Willemsen Rob
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: Bonifati V; Oostra B A; Heutink P
Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic forms.
Cellular and molecular life sciences : CMLS 2004;61(14):1729-50.
2004: Sleegers K; Roks G; Theuns J; Aulchenko Y S; Rademakers R; Cruts M; van Gool W A; Van Broeckhoven C; Heutink P; Oostra B A; van Swieten J C; van Duijn C M
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: Mientjes Edwin J; Willemsen Rob; Kirkpatrick Laura L; Nieuwenhuizen Ingeborg M; Hoogeveen-Westerveld Marianne; Verweij Marcel; Reis Surya; Bardoni Barbara; Hoogeveen Andre T; Oostra Ben A; Nelson David L
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo.
Human molecular genetics 2004;13(13):1291-302.
2004: Aulchenko Yurii S; Heutink Peter; Mackay Ian; Bertoli-Avella Aida M; Pullen Jan; Vaessen Norbert; Rademaker Tessa A M; Sandkuijl Lodewijk A; Cardon Lon; Oostra Ben; van Duijn Cornelia M
Linkage disequilibrium in young genetically isolated Dutch population.
European journal of human genetics : EJHG 2004;12(7):527-34.
2004: Reis Surya A; Willemsen Rob; van Unen Leontine; Hoogeveen Andre T; Oostra Ben A
Prospects of TAT-mediated protein therapy for fragile X syndrome.
Journal of molecular histology 2004;35(4):389-95.
2004: Bertoli-Avella Aida M; Oostra Ben A; Heutink Peter
Chasing genes in Alzheimer's and Parkinson's disease.
Human genetics 2004;114(5):413-38.
2004: Bonifati Vincenzo; Oostra Ben A; Heutink Peter
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: Stoyanova Violeta; Oostra Ben A
The CGG repeat and the FMR1 gene.
Methods in molecular biology (Clifton, N.J.) 2004;277():173-84.
2004: Willemsen Rob; Oostra Ben A; Bassell Gary J; Dictenberg Jason
The fragile X syndrome: from molecular genetics to neurobiology.
Mental retardation and developmental disabilities research reviews 2004;10(1):60-7.
2003: Aulchenko Yurii S; Vaessen Norbert; Heutink Peter; Pullen Jan; Snijders Pieter J L M; Hofman Albert; Sandkuijl Lodewijk A; Houwing-Duistermaat Jeanine J; Edwards Mark; Bennett Simon; Oostra Ben A; van Duijn Cornelia M
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: Chiurazzi Pietro; Neri Giovanni; Oostra Ben A
Understanding the biological underpinnings of fragile X syndrome.
Current opinion in pediatrics 2003;15(6):559-66.
2003: Bonifati V; Rizzu P; Squitieri F; Krieger E; Vanacore N; van Swieten J C; Brice A; van Duijn C M; Oostra B; Meco G; Heutink P
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: Oostra Ben A; Willemsen Rob
A fragile balance: FMR1 expression levels.
Human molecular genetics 2003;12 Spec No 2():R249-57.
2003: Dekker M C J; van Swieten J C; Houwing-Duistermaat J J; Snijders P J L M; Boeren E; Hofman A; Breteler M M B; Heutink P; Oostra B A; van Duijn C M
A clinical-genetic study of Parkinson's disease in a genetically isolated community.
Journal of neurology 2003;250(9):1056-62.
2003: Galjaard Robert-Jan H; van der Linde Herma C; Eussen Bert H J; de Vries Bert B A; Wouters Cokkie H; Oostra Ben A; de Graaff Esther; Heutink Peter
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: de Vries B B A; Severijnen L-A; Jacobs A; Olmer R; Halley D J J; Oostra B A; Willemsen R
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: Lettice Laura A; Heaney Simon J H; Purdie Lorna A; Li Li; de Beer Philippe; Oostra Ben A; Goode Debbie; Elgar Greg; Hill Robert E; de Graaff Esther
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: Dekker Marieke; Bonifati Vincenzo; van Swieten John; Leenders Nico; Galjaard Robert-Jan; Snijders Pieter; Horstink Marten; Heutink Peter; Oostra Ben; van Duijn Cornelia
Clinical features and neuroimaging of PARK7-linked parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2003;18(7):751-7.
2003: Verkerk Annemieke J M H; Mathews Carol A; Joosse Marijke; Eussen Bert H J; Heutink Peter; Oostra Ben A;
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder.
Genomics 2003;82(1):1-9.
2003: Schut A F C; Janssen J A M J L; Deinum J; Vergeer J M; Hofman A; Lamberts S W J; Oostra B A; Pols H A P; Witteman J C M; van Duijn C M
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: Willemsen R; Smits A; Severijnen L-A; Jansen M; Jacobs A; De Bruyn E; Oostra B
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: Galjaard Robert-Jan H; Smits Arie P T; Tuerlings Joep H A M; Bais Aagje G; Bertoli Avella Aida M; Breedveld Guido; de Graaff Esther; Oostra Ben A; Heutink Peter
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: Willemsen Rob; Hoogeveen-Westerveld Marianne; Reis Surya; Holstege Joan; Severijnen Lies-Anne W F M; Nieuwenhuizen Ingeborg M; Schrier Mariette; van Unen Leontine; Tassone Flora; Hoogeveen Andre T; Hagerman Paul J; Mientjes Edwin J; Oostra Ben A
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: Zalfa Francesca; Giorgi Marcello; Primerano Beatrice; Moro Annamaria; Di Penta Alessandra; Reis Surya; Oostra Ben; Bagni Claudia
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: van Swieten John C; Brusse Esther; de Graaf Bianca M; Krieger Elmar; van de Graaf Raoul; de Koning Inge; Maat-Kievit Anneke; Leegwater Peter; Dooijes Dennis; Oostra Ben A; Heutink Peter
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.
2003: Bonifati Vincenzo; Rizzu Patrizia; van Baren Marijke J; Schaap Onno; Breedveld Guido J; Krieger Elmar; Dekker Marieke C J; Squitieri Ferdinando; Ibanez Pablo; Joosse Marijke; van Dongen Jeroen W; Vanacore Nicola; van Swieten John C; Brice Alexis; Meco Giuseppe; van Duijn Cornelia M; Oostra Ben A; Heutink Peter
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Science (New York, N.Y.) 2003;299(5604):256-9.
2003: Bakker C E; Oostra B A
Understanding fragile X syndrome: insights from animal models.
Cytogenetic and genome research 2003;100(1-4):111-23.
2002: De Diego Otero Yolanda; Severijnen Lies-Anne; van Cappellen Gert; Schrier Mariëtte; Oostra Ben; Willemsen Rob
Transport of fragile X mental retardation protein via granules in neurites of PC12 cells.
Molecular and cellular biology 2002;22(23):8332-41.
2002: Njajou Omer T; de Jong Gerard; Berghuis Bianca; Vaessen Norbert; Snijders Pieter J L M; Goossens Jan P; Wilson John H P; Breuning Martijn H; Oostra Ben A; Heutink Peter; Sandkuijl Lodewijk A; van Duijn Cornelia M
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics.
Blood cells, molecules & diseases 2002;29(3):439-43.
2002: Castrén Maija; Lampinen Katariina E; Miettinen Riitta; Koponen Eija; Sipola Ilkka; Bakker Cathy E; Oostra Ben A; Castrén Eero
BDNF regulates the expression of fragile X mental retardation protein mRNA in the hippocampus.
Neurobiology of disease 2002;11(1):221-9.
2002: Heutink Peter; Oostra Ben A
Gene finding in genetically isolated populations.
Human molecular genetics 2002;11(20):2507-15.
2002: Valente E M; Brancati F; Caputo V; Graham E A; Davis M B; Ferraris A; Breteler M M B; Gasser T; Bonifati V; Bentivoglio A R; De Michele G; Dürr A; Cortelli P; Filla A; Meco G; Oostra B A; Brice A; Albanese A; Dallapiccola B; Wood N W;
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: Bonifati V; Dekker M C J; Vanacore N; Fabbrini G; Squitieri F; Marconi R; Antonini A; Brustenghi P; Dalla Libera A; De Mari M; Stocchi F; Montagna P; Gallai V; Rizzu P; van Swieten J C; Oostra B; van Duijn C M; Meco G; Heutink P;
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: Irwin Scott A; Idupulapati Madhuri; Gilbert Molly E; Harris Jennifer B; Chakravarti Aparna B; Rogers Erica J; Crisostomo Ralph A; Larsen Brian P; Mehta Amit; Alcantara C J; Patel Biraju; Swain Rodney A; Weiler Ivan Jeanne; Oostra Ben A; Greenough William T
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: Tian Yong; Breedveld Guido J; Huang Shangzhi; Oostra Ben A; Heutink Peter; Lo Wilson H Y
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: Pietrobono Roberta; Pomponi Maria Grazia; Tabolacci Elisabetta; Oostra Ben; Chiurazzi Pietro; Neri Giovanni
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: Willemsen Rob; Bontekoe Carola J M; Severijnen Lies-Anne; Oostra Ben A
Timing of the absence of FMR1 expression in full mutation chorionic villi.
Human genetics 2002;110(6):601-5.
2002: Hoogeveen André T; Willemsen Rob; Oostra Ben A
Fragile X syndrome, the Fragile X related proteins, and animal models.
Microscopy research and technique 2002;57(3):148-55.
2002: Lettice Laura A; Horikoshi Taizo; Heaney Simon J H; van Baren Marijke J; van der Linde Herma C; Breedveld Guido J; Joosse Marijke; Akarsu Nurten; Oostra Ben A; Endo Naoto; Shibata Minoru; Suzuki Mikio; Takahashi Eiichi; Shinka Toshikatsu; Nakahori Yutaka; Ayusawa Dai; Nakabayashi Kazuhiko; Scherer Stephen W; Heutink Peter; Hill Robert E; Noji Sumihare
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: Breedveld Guido J; van Dongen Jeroen W F; Danesino Cesare; Guala Andrea; Percy Alan K; Dure Leon S; Harper Peter; Lazarou Lazarus P; van der Linde Herma; Joosse Marijke; Grüters Annette; MacDonald Marcy E; de Vries Bert B A; Arts Willem Frans M; Oostra Ben A; Krude Heiko; Heutink Peter
Mutations in TITF-1 are associated with benign hereditary chorea.
Human molecular genetics 2002;11(8):971-9.
2002: Zhao Hongshan; Tian Yong; Breedveld Guido; Huang Shangzhi; Zou Ying; Y Jue; Chai Jinghua; Li Hui; Li Mingyue; Oostra Ben A; Lo Wilson H Y; Heutink Peter
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: Vaessen Norbert; Janssen Joop A; Heutink Peter; Hofman Albert; Lamberts Steven W J; Oostra Ben A; Pols Huibert A P; van Duijn Cornelia M
Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight.
Lancet 2002;359(9311):1036-7.
2002: Njajou Omer T; Vaessen Norbert; Oostra Ben; Heutink Peter; Van Duijn Cornelia M
The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes.
Molecular genetics and metabolism 2002;75(3):290-1.
2002: van Baren Marijke J; van der Linde Herma C; Breedveld Guido J; Baarends Willy M; Rizzu Patrizia; de Graaff Esther; Oostra Ben A; Heutink Peter
A double RING-H2 domain in RNF32, a gene expressed during sperm formation.
Biochemical and biophysical research communications 2002;292(1):58-65.
2002: Oostra Ben A
Functions of the fragile X protein.
Trends in molecular medicine 2002;8(3):102-3.
2002: Bontekoe Carola J M; McIlwain Kellie L; Nieuwenhuizen Ingeborg M; Yuva-Paylor Lisa A; Nellis Anna; Willemsen Rob; Fang Zhe; Kirkpatrick Laura; Bakker Cathy E; McAninch Robin; Cheng Ngan Ching; Merriweather Michelle; Hoogeveen Andre T; Nelson David; Paylor Richard; Oostra Ben A
Knockout mouse model for Fxr2: a model for mental retardation.
Human molecular genetics 2002;11(5):487-98.
2002: Vaessen Norbert; Heutink Peter; Houwing-Duistermaat Jeanine J; Snijders Pieter J L M; Rademaker Tessa; Testers Leon; Batstra Manou R; Sandkuijl Lodewijk A; van Duijn Cornelia M; Oostra Ben A
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: Bonifati Vincenzo; Breedveld Guido J; Squitieri Ferdinando; Vanacore Nicola; Brustenghi Pierluigi; Harhangi Biswadjiet S; Montagna Pasquale; Cannella Milena; Fabbrini Giovanni; Rizzu Patrizia; van Duijn Cornelia M; Oostra Ben A; Meco Giuseppe; Heutink Peter
Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset.
Annals of neurology 2002;51(2):253-6.
2002: Valente Enza Maria; Brancati Francesco; Ferraris Alessandro; Graham Elizabeth A; Davis Mary B; Breteler Monique M B; Gasser Thomas; Bonifati Vincenzo; Bentivoglio Anna Rita; De Michele Giuseppe; Dürr Alexandra; Cortelli Pietro; Wassilowsky Dietmar; Harhangi Biswadjiet S; Rawal Nina; Caputo Viviana; Filla Alessandro; Meco Giuseppe; Oostra Ben A; Brice Alexis; Albanese Alberto; Dallapiccola Bruno; Wood Nicholas W;
PARK6-linked parkinsonism occurs in several European families.
Annals of neurology 2002;51(1):14-8.
2002: Oostra B A; Willemsen R
The X chromosome and fragile X mental retardation.
Cytogenetic and genome research 2002;99(1-4):257-64.
2002: Mineur Yann S; Sluyter Frans; de Wit Sanne; Oostra Ben A; Crusio Wim E
Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse.
Hippocampus 2002;12(1):39-46.
2001: Oostra B A; Chiurazzi P
The fragile X gene and its function.
Clinical genetics 2001;60(6):399-408.
2001: Gantois I; Bakker C E; Reyniers E; Willemsen R; D'Hooge R; De Deyn P P; Oostra B A; Kooy R F
Restoring the phenotype of fragile X syndrome: insight from the mouse model.
Current molecular medicine 2001;1(4):447-55.
2001: Galjaard R J; Kostakoglu N; Hoogeboom J J; Breedveld G J; van der Linde H C; Hovius S E; Oostra B A; Sandkuijl L A; Akarsu A N; Heutink P
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: van Duijn C M; Dekker M C; Bonifati V; Galjaard R J; Houwing-Duistermaat J J; Snijders P J; Testers L; Breedveld G J; Horstink M; Sandkuijl L A; van Swieten J C; Oostra B A; Heutink P
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.
American journal of human genetics 2001;69(3):629-34.
2001: Bontekoe C J; Bakker C E; Nieuwenhuizen I M; van der Linde H; Lans H; de Lange D; Hirst M C; Oostra B A
Instability of a (CGG)98 repeat in the Fmr1 promoter.
Human molecular genetics 2001;10(16):1693-9.
2001: Oostra B A; Willemsen R
Diagnostic tests for fragile X syndrome.
Expert review of molecular diagnostics 2001;1(2):226-32.
2001: Njajou O T; Vaessen N; Joosse M; Berghuis B; van Dongen J W; Breuning M H; Snijders P J; Rutten W P; Sandkuijl L A; Oostra B A; van Duijn C M; Heutink P
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
Nature genetics 2001;28(3):213-4.
2001: Harhangi B S; Oostra B A; Heutink P; van Duijn C M; Hofman A; Breteler M M
CYP2D6 polymorphism in Parkinson's disease: the Rotterdam Study.
Movement disorders : official journal of the Movement Disorder Society 2001;16(2):290-3.
2001: Vaessen N; Heutink P; Janssen J A; Witteman J C; Testers L; Hofman A; Lamberts S W; Oostra B A; Pols H A; van Duijn C M
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: Bonifati V; De Michele G; Lücking C B; Dürr A; Fabrizio E; Ambrosio G; Vanacore N; De Mari M; Marconi R; Capus L; Breteler M M; Gasser T; Oostra B; Wood N; Agid Y; Filla A; Meco G; Brice A;
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: Castrén M; Haapasalo A; Oostra B A; Castrén E
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: Heus H C; Luijsterburg A J; van Baren M J; Breedveld G J; Joosse M N; Nieuwenhuizen I M; Vermeij-Keers C; Oostra B A; Heutink P
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.
2001: Galjaard R J; van der Ham L I; Posch N A; Dijkstra P F; Oostra B A; Hovius S E; Timmenga E J; Sonneveld G J; Hoogeboom A J; Heutink P
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.
2000: Verwest A M; Poelman M; Dinjens W N; Batstra M R; Oostra B A; Lequin M H; Larsson L I; Aanstoot H J; Bruining G J; de Krijger R R
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: Chiurazzi P; Oostra B A
Genetics of mental retardation.
Current opinion in pediatrics 2000;12(6):529-35.
2000: Van Dam D; D'Hooge R; Hauben E; Reyniers E; Gantois I; Bakker C E; Oostra B A; Kooy R F; De Deyn P P
Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice.
Behavioural brain research 2000;117(1-2):127-36.
2000: Tunçbilek E; Alikasifoglu M; Aktas D; Duman F; Yanik H; Anar B; Oostra B; Willemsen R
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: Willemsen R; Olmer R; De Diego Otero Y; Oostra B A
Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype.
Journal of medical genetics 2000;37(8):603-4.
2000: Bakker C E; de Diego Otero Y; Bontekoe C; Raghoe P; Luteijn T; Hoogeveen A T; Oostra B A; Willemsen R
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse.
Experimental cell research 2000;258(1):162-70.
2000: Tamanini F; Kirkpatrick L L; Schonkeren J; van Unen L; Bontekoe C; Bakker C; Nelson D L; Galjaard H; Oostra B A; Hoogeveen A T
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: Kooy R F; Willemsen R; Oostra B A
Fragile X syndrome at the turn of the century.
Molecular medicine today 2000;6(5):193-8.
2000: Musumeci S A; Bosco P; Calabrese G; Bakker C; De Sarro G B; Elia M; Ferri R; Oostra B A
Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome.
Epilepsia 2000;41(1):19-23.
2000: Willemsen R; Oostra B A
FMRP detection assay for the diagnosis of the fragile X syndrome.
American journal of medical genetics 2000;97(3):183-8.
1999: Chiurazzi P; Pomponi M G; Pietrobono R; Bakker C E; Neri G; Oostra B A
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.
Human molecular genetics 1999;8(12):2317-23.
1999: Tamanini F; Van Unen L; Bakker C; Sacchi N; Galjaard H; Oostra B A; Hoogeveen A T
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: Bonifati V; Joosse M; Nicholl D J; Vanacore N; Bennett P; Rizzu P; Fabbrini G; Marconi R; Colosimo C; Locuratolo N; Stocchi F; Bonuccelli U; De Mari M; Wenning G; Vieregge P; Oostra B; Meco G; Heutink P
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: Harhangi B S; Oostra B A; Heutink P; van Duijn C M; Hofman A; Breteler M M
N-acetyltransferase-2 polymorphism in Parkinson's disease: the Rotterdam study.
Journal of neurology, neurosurgery, and psychiatry 1999;67(4):518-20.
1999: Froelich S; Houlden H; Rizzu P; Chakraverty S; Baker M; Kwon J; Nowotny P; Isaacs A; Nowotny V; Wauters E; van Baren M J; Oostra B A; Hardy J; Lannfelt L; Goate A; Hutton M; Lendon C L; Heutink P
Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21.
Genomics 1999;60(2):129-36.
1999: Harhangi B S; Farrer M J; Lincoln S; Bonifati V; Meco G; De Michele G; Brice A; Dürr A; Martinez M; Gasser T; Bereznai B; Vaughan J R; Wood N W; Hardy J; Oostra B A; Breteler M M
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: Kooy R F; Reyniers E; Verhoye M; Sijbers J; Bakker C E; Oostra B A; Willems P J; Van Der Linden A
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: Willemsen R; Anar B; De Diego Otero Y; de Vries B B; Hilhorst-Hofstee Y; Smits A; van Looveren E; Willems P J; Galjaard H; Oostra B A
Noninvasive test for fragile X syndrome, using hair root analysis.
American journal of human genetics 1999;65(1):98-103.
1999: de Vries B B; Mohkamsing S; van den Ouweland A M; Mol E; Gelsema K; van Rijn M; Tibben A; Halley D J; Duivenvoorden H J; Oostra B A; Niermeijer M F
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: Reyniers E; Martin J J; Cras P; Van Marck E; Handig I; Jorens H Z; Oostra B A; Kooy R F; Willems P J
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
American journal of medical genetics 1999;84(3):245-9.
1999: Heus H C; Hing A; van Baren M J; Joosse M; Breedveld G J; Wang J C; Burgess A; Donnis-Keller H; Berglund C; Zguricas J; Scherer S W; Rommens J M; Oostra B A; Heutink P
A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.
Genomics 1999;57(3):342-51.
1999: Tamanini F; Bontekoe C; Bakker C E; van Unen L; Anar B; Willemsen R; Yoshida M; Galjaard H; Oostra B A; Hoogeveen A T
Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.
Human molecular genetics 1999;8(5):863-9.
1999: Abbas N; Lücking C B; Ricard S; Dürr A; Bonifati V; De Michele G; Bouley S; Vaughan J R; Gasser T; Marconi R; Broussolle E; Brefel-Courbon C; Harhangi B S; Oostra B A; Fabrizio E; Böhme G A; Pradier L; Wood N W; Filla A; Meco G; Denefle P; Agid Y; Brice A
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: Helderman-van den Enden A T; Maaswinkel-Mooij P D; Hoogendoorn E; Willemsen R; Maat-Kievit J A; Losekoot M; Oostra B A
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: Rizzu P; Van Swieten J C; Joosse M; Hasegawa M; Stevens M; Tibben A; Niermeijer M F; Hillebrand M; Ravid R; Oostra B A; Goedert M; van Duijn C M; Heutink P
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: Zguricas J; Heus H; Morales-Peralta E; Breedveld G; Kuyt B; Mumcu E F; Bakker W; Akarsu N; Kay S P; Hovius S E; Heredero-Baute L; Oostra B A; Heutink P
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: de Vries B B; Mohkamsing S; van den Ouweland A M; Halley D J; Niermeijer M F; Oostra B A; Willemsen R
Screening with the FMR1 protein test among mentally retarded males.
Human genetics 1998;103(4):520-2.
1998: de Vries L B; van den Ouweland A M; Mohkamsing S; Sandkuijl L A; Oostra B A; Niermeijer M F
[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: de Vries B B; Halley D J; Oostra B A; Niermeijer M F
The fragile X syndrome.
Journal of medical genetics 1998;35(7):579-89.
1998: Steward O; Bakker C E; Willems P J; Oostra B A
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: Storm K; Handig I; Reyniers E; Oostra B A; Kooy R F; Willems P J
Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.
Human genetics 1998;102(1):54-6.
1998: Slegtenhorst-Eegdeman K E; de Rooij D G; Verhoef-Post M; van de Kant H J; Bakker C E; Oostra B A; Grootegoed J A; Themmen A P
Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development.
Endocrinology 1998;139(1):156-62.
1998: Chiurazzi P; Pomponi M G; Willemsen R; Oostra B A; Neri G
In vitro reactivation of the FMR1 gene involved in fragile X syndrome.
Human molecular genetics 1998;7(1):109-13.
1998: Bijvoet A G; van de Kamp E H; Kroos M A; Ding J H; Yang B Z; Visser P; Bakker C E; Verbeet M P; Oostra B A; Reuser A J; van der Ploeg A T
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
Human molecular genetics 1998;7(1):53-62.
1998: Kooy R F; Oostra B A; Willems P J
The fragile X syndrome and other fragile site disorders.
Results and problems in cell differentiation 1998;21():1-46.
1997: Oostra B A; Hoogeveen A T
Animal model for fragile X syndrome.
Annals of medicine 1997;29(6):563-7.
1997: Losekoot M; Hoogendoorn E; Olmer R; Jansen C C; Oosterwijk J C; van den Ouweland A M; Halley D J; Warren S T; Willemsen R; Oostra B A; Bakker E
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: Bontekoe C J; de Graaff E; Nieuwenhuizen I M; Willemsen R; Oostra B A
FMR1 premutation allele (CGG)81 is stable in mice.
European journal of human genetics : EJHG 1997;5(5):293-8.
1997: de Vries B B; van den Ouweland A M; Mohkamsing S; Duivenvoorden H J; Mol E; Gelsema K; van Rijn M; Halley D J; Sandkuijl L A; Oostra B A; Tibben A; Niermeijer M F
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: Tamanini F; Willemsen R; van Unen L; Bontekoe C; Galjaard H; Oostra B A; Hoogeveen A T
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.
Human molecular genetics 1997;6(8):1315-22.
1997: Hoogeveen A T; Oostra B A
The fragile X syndrome.
Journal of inherited metabolic disease 1997;20(2):139-51.
1997: Comery T A; Harris J B; Willems P J; Oostra B A; Irwin S A; Weiler I J; Greenough W T
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: Willemsen R; Los F; Mohkamsing S; van den Ouweland A; Deelen W; Galjaard H; Oostra B
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: Willemsen R; Smits A; Mohkamsing S; van Beerendonk H; de Haan A; de Vries B; van den Ouweland A; Sistermans E; Galjaard H; Oostra B A
Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.
Human genetics 1997;99(3):308-11.
1997: Heutink P; Stevens M; Rizzu P; Bakker E; Kros J M; Tibben A; Niermeijer M F; van Duijn C M; Oostra B A; van Swieten J C
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: Malter H E; Iber J C; Willemsen R; de Graaff E; Tarleton J C; Leisti J; Warren S T; Oostra B A
Characterization of the full fragile X syndrome mutation in fetal gametes.
Nature genetics 1997;15(2):165-9.
1997: D'Hooge R; Nagels G; Franck F; Bakker C E; Reyniers E; Storm K; Kooy R F; Oostra B A; Willems P J; De Deyn P P
Mildly impaired water maze performance in male Fmr1 knockout mice.
Neuroscience 1997;76(2):367-76.
1996: de Vries B B; Jansen C C; Duits A A; Verheij C; Willemsen R; van Hemel J O; van den Ouweland A M; Niermeijer M F; Oostra B A; Halley D J
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: de Graaff E; de Vries B B; Willemsen R; van Hemel J O; Mohkamsing S; Oostra B A; van den Ouweland A M
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: Godfraind J M; Reyniers E; De Boulle K; D'Hooge R; De Deyn P P; Bakker C E; Oostra B A; Kooy R F; Willems P J
Long-term potentiation in the hippocampus of fragile X knockout mice.
American journal of medical genetics 1996;64(2):246-51.
1996: Kooy R F; D'Hooge R; Reyniers E; Bakker C E; Nagels G; De Boulle K; Storm K; Clincke G; De Deyn P P; Oostra B A; Willems P J
Transgenic mouse model for the fragile X syndrome.
American journal of medical genetics 1996;64(2):241-5.
1996: Willemsen R; Bontekoe C; Tamanini F; Galjaard H; Hoogeveen A; Oostra B
Association of FMRP with ribosomal precursor particles in the nucleolus.
Biochemical and biophysical research communications 1996;225(1):27-33.
1996: Chiurazzi P; Destro-Bisol G; Genuardi M; Oostra B A; Spedini G; Neri G
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: Chiurazzi P; Genuardi M; Kozak L; Giovannucci-Uzielli M L; Bussani C; Dagna-Bricarelli F; Grasso M; Perroni L; Sebastio G; Sperandeo M P; Oostra B A; Neri G
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: Hamel B C; Kremer H; Wesby-van Swaay E; van den Helm B; Smits A P; Oostra B A; Ropers H H; Mariman E C
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: Zguricas J; Heutink P; Heredero L; Deurloo J; Oostra B A; Snijders P J; Lindhout D; Hovius S E
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: Tamanini F; Meijer N; Verheij C; Willems P J; Galjaard H; Oostra B A; Hoogeveen A T
FMRP is associated to the ribosomes via RNA.
Human molecular genetics 1996;5(6):809-13.
1996: de Vries B B; Wiegers A M; Smits A P; Mohkamsing S; Duivenvoorden H J; Fryns J P; Curfs L M; Halley D J; Oostra B A; van den Ouweland A M; Niermeijer M F
Mental status of females with an FMR1 gene full mutation.
American journal of human genetics 1996;58(5):1025-32.
1996: Reyniers E; Van Bockstaele D R; De Boulle K; Kooy R F; Bakker C E; Oostra B A; Willems P J
Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice.
Human genetics 1996;97(1):49-50.
1996: Oostra B A
Fragile X syndrome in humans and mice.
Acta geneticae medicae et gemellologiae 1996;45(1-2):93-108.
1995: Smeets H J; Smits A P; Verheij C E; Theelen J P; Willemsen R; van de Burgt I; Hoogeveen A T; Oosterwijk J C; Oostra B A
Normal phenotype in two brothers with a full FMR1 mutation.
Human molecular genetics 1995;4(11):2103-8.
1995: Van Camp G; Coucke P; Speleman F; Van Roy N; Beyer E C; Oostra B A; Willems P J
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: Oostra B A; Halley D J
Complex behavior of simple repeats: the fragile X syndrome.
Pediatric research 1995;38(5):629-37.
1995: Oostra B A; Willems P J
A fragile gene.
BioEssays : news and reviews in molecular, cellular and developmental biology 1995;17(11):941-7.
1995: de Vries B B; Robinson H; Stolte-Dijkstra I; Tjon Pian Gi C V; Dijkstra P F; van Doorn J; Halley D J; Oostra B A; Turner G; Niermeijer M F
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: de Graaff E; Willemsen R; Zhong N; de Die-Smulders C E; Brown W T; Freling G; Oostra B
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: Heutink P; van de Wetering B J; Pakstis A J; Kurlan R; Sandor P; Oostra B A; Sandkuijl L A
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: Hendriksen P J; Hoogerbrugge J W; Themmen A P; Koken M H; Hoeijmakers J H; Oostra B A; van der Lende T; Grootegoed J A
Postmeiotic transcription of X and Y chromosomal genes during spermatogenesis in the mouse.
Developmental biology 1995;170(2):730-3.
1995: Willemsen R; Mohkamsing S; de Vries B; Devys D; van den Ouweland A; Mandel J L; Galjaard H; Oostra B
Rapid antibody test for fragile X syndrome.
Lancet 1995;345(8958):1147-8.
1995: Verheij C; de Graaff E; Bakker C E; Willemsen R; Willems P J; Meijer N; Galjaard H; Reuser A J; Oostra B A; Hoogeveen A T
Characterization of FMR1 proteins isolated from different tissues.
Human molecular genetics 1995;4(5):895-901.
1995: de Graaff E; Rouillard P; Willems P J; Smits A P; Rousseau F; Oostra B A
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.
Human molecular genetics 1995;4(1):45-9.
1995: Heutink P; Vermeij-Keers C; Oostra B A
The genetic background of craniosynostosis syndromes.
European journal of human genetics : EJHG 1995;3(5):312-23.
1994: Heutink P; Haitjema T; Breedveld G J; Janssen B; Sandkuijl L A; Bontekoe C J; Westerman C J; Oostra B A
Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.
Journal of medical genetics 1994;31(12):933-6.
1994: Hermans M M; De Graaff E; Kroos M A; Mohkamsing S; Eussen B J; Joosse M; Willemsen R; Kleijer W J; Oostra B A; Reuser A J
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: Hamel B C; Smits A P; de Graaff E; Smeets D F; Schoute F; Eussen B H; Knight S J; Davies K E; Assman-Hulsmans C F; Oostra B A
Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.
American journal of human genetics 1994;55(5):923-31.
1994: Vits L; De Boulle K; Reyniers E; Handig I; Darby J K; Oostra B; Willems P J
Apparent regression of the CGG repeat in FMR1 to an allele of normal size.
Human genetics 1994;94(5):523-6.
1994: Parrish J E; Oostra B A; Verkerk A J; Richards C S; Reynolds J; Spikes A S; Shaffer L G; Nelson D L
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: van den Ouweland A M; Deelen W H; Kunst C B; Uzielli M L; Nelson D L; Warren S T; Oostra B A; Halley D J
Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.
Human molecular genetics 1994;3(10):1823-7.
1994: Deelen W; Bakker C; Halley D J; Oostra B A
Conservation of CGG region in FMR1 gene in mammals.
American journal of medical genetics 1994;51(4):513-6.
1994: van den Ouweland A M; de Vries B B; Bakker P L; Deelen W H; de Graaff E; van Hemel J O; Oostra B A; Niermeijer M F; Halley D J
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: Halley D; Van Den Ouweland A; Deelen W; Verma I; Oostra B
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: Chiurazzi P; de Graaff E; Ng J; Verkerk A J; Wolfson S; Fisch G S; Kozak L; Neri G; Oostra B A
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: Zguricas J; Snijders P J; Hovius S E; Heutink P; Oostra B A; Lindhout D
Phenotypic analysis of triphalangeal thumb and associated hand malformations.
Journal of medical genetics 1994;31(6):462-7.
1994: Meijer H; de Graaff E; Merckx D M; Jongbloed R J; de Die-Smulders C E; Engelen J J; Fryns J P; Curfs P M; Oostra B A
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: De Vries L B; Halley D J; Oostra B A; Niermeijer M F
The fragile-X syndrome: a growing gene causing familial intellectual disability.
Journal of intellectual disability research : JIDR 1994;38 ( Pt 1)():1-8.
1994: Wiegers A M; Curfs L M; Meijer H; Oostra B; Fryns J P
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: Heutink P; van Schothorst E M; van der Mey A G; Bardoel A; Breedveld G; Pertijs J; Sandkuijl L A; van Ommen G J; Cornelisse C J; Oostra B A
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: Buyle S; Reyniers E; Vits L; De Boulle K; Handig I; Wuyts F L; Deelen W; Halley D J; Oostra B A; Willems P J
Founder effect in a Belgian-Dutch fragile X population.
Human genetics 1993;92(3):269-72.
1993: Bontekoe C J; de Graaff E; Breedveld G J; Oostra B A; Heutink P
Dinucleotide repeat polymorphism at D11S994 locus.
Human molecular genetics 1993;2(10):1747.
1993: de Vries B B; Fryns J P; Butler M G; Canziani F; Wesby-van Swaay E; van Hemel J O; Oostra B A; Halley D J; Niermeijer M F
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
Journal of medical genetics 1993;30(9):761-6.
1993: Verheij C; Bakker C E; de Graaff E; Keulemans J; Willemsen R; Verkerk A J; Galjaard H; Reuser A J; Hoogeveen A T; Oostra B A
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome.
Nature 1993;363(6431):722-4.
1993: Reyniers E; Vits L; De Boulle K; Van Roy B; Van Velzen D; de Graaff E; Verkerk A J; Jorens H Z; Darby J K; Oostra B
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: Oostra B A; Jacky P B; Brown W T; Rousseau F
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.
Journal of medical genetics 1993;30(5):410-3.
1993: Sleddens H F; Oostra B A; Brinkmann A O; Trapman J
Trinucleotide (GGN) repeat polymorphism in the human androgen receptor (AR) gene.
Human molecular genetics 1993;2(4):493.
1993: Hermans M M; Svetkey L P; Oostra B A; Chen Y T; Reuser A J
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: Smits A P; Dreesen J C; Post J G; Smeets D F; de Die-Smulders C; Spaans-van der Bijl T; Govaerts L C; Warren S T; Oostra B A; van Oost B A
The fragile X syndrome: no evidence for any recent mutations.
Journal of medical genetics 1993;30(2):94-6.
1993: Wisselaar H A; Hermans M M; Visser W J; Kroos M A; Oostra B A; Aspden W; Harrison B; Hetzel D J; Reuser A J; Drinkwater R D
Biochemical genetics of glycogenosis type II in Brahman cattle.
Biochemical and biophysical research communications 1993;190(3):941-7.
1993: Hermans M M; Wisselaar H A; Kroos M A; Oostra B A; Reuser A J
Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.
The Biochemical journal 1993;289 ( Pt 3)():681-6.
1993: Hermans M M; de Graaff E; Kroos M A; Wisselaar H A; Willemsen R; Oostra B A; Reuser A J
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: De Boulle K; Verkerk A J; Reyniers E; Vits L; Hendrickx J; Van Roy B; Van den Bos F; de Graaff E; Oostra B A; Willems P J
A point mutation in the FMR-1 gene associated with fragile X mental retardation.
Nature genetics 1993;3(1):31-5.
1993: van Biezen N A; Lekanne Deprez R H; Thijs A; Heutink P; Oostra B A; Geurts van Kessel A H; Zwarthoff E C
Isolation and characterization of 25 unique DNA markers for human chromosome 22.
Genomics 1993;15(1):206-8.
1993: Hermans M M; Kroos M A; de Graaff E; Oostra B A; Reuser A J
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: de Vries B B; Wiegers A M; de Graaff E; Verkerk A J; Van Hemel J O; Halley D J; Fryns J P; Curfs L M; Niermeijer M F; Oostra B A
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: Willems P J; Van Roy B; De Boulle K; Vits L; Reyniers E; Beck O; Dumon J E; Verkerk A; Oostra B
Segregation of the fragile X mutation from an affected male to his normal daughter.
Human molecular genetics 1992;1(7):511-5.
1992: Oostra B A; Verkerk A J
The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.
Chromosoma 1992;101(7):381-7.
1992: van Oost B A; Smits A P; Dreesen J C; van den Ouweland A M; Oostra B A
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: Riggins G J; Sherman S L; Oostra B A; Sutcliffe J S; Feitell D; Nelson D L; van Oost B A; Smits A P; Ramos F J; Pfendner E
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: Verkerk A J; deVries B B; Niermeijer M F; Fu Y H; Nelson D L; Warren S T; Majoor-Krakauer D F; Halley D J; Oostra B A
Intragenic probe used for diagnostics in fragile X families.
American journal of medical genetics 1992;43(1-2):192-6.
1992: Verkerk A J; Eussen B H; Van Hemel J O; Oostra B A
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: Faust C J; Verkerk A J; Wilson P J; Morris C P; Hopwood J J; Oostra B A; Herman G E
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: Heutink P; van der Mey A G; Sandkuijl L A; van Gils A P; Bardoel A; Breedveld G J; van Vliet M; van Ommen G J; Cornelisse C J; Oostra B A
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: Sleddens H F; Oostra B A; Brinkmann A O; Trapman J
Trinucleotide repeat polymorphism in the androgen receptor gene (AR).
Nucleic acids research 1992;20(6):1427.
1992: Koken M H; Smit E M; Jaspers-Dekker I; Oostra B A; Hagemeijer A; Bootsma D; Hoeijmakers J H
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: Van Hemel J O; Eussen B; Wesby-van Swaay E; Oostra B A
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: Heutink P; van de Wetering B J; Breedveld G J; Oostra B A
Genetic study on Tourette syndrome in The Netherlands.
Advances in neurology 1992;58():167-72.
1991: Oostra B A; de Rijk-van Andel J F; Eussen H J; van Hemel J O; Halley D J; Niermeijer M F
DNA analysis in patients with lissencephaly type I and other cortical dysplasias.
American journal of medical genetics 1991;40(3):383-6.
1991: Hermans M M; de Graaff E; Kroos M A; Wisselaar H A; Oostra B A; Reuser A J
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: De Rijk-van Andel J F; Catsman-Berrevoets C E; Halley D J; Wesby-van Swaay E; Niermeijer M F; Oostra B A
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.
Human genetics 1991;87(4):509-10.
1991: Pieretti M; Zhang F P; Fu Y H; Warren S T; Oostra B A; Caskey C T; Nelson D L
Absence of expression of the FMR-1 gene in fragile X syndrome.
Cell 1991;66(4):817-22.
1991: Hermans M M; Kroos M A; van Beeumen J; Oostra B A; Reuser A J
Human lysosomal alpha-glucosidase. Characterization of the catalytic site.
The Journal of biological chemistry 1991;266(21):13507-12.
1991: van Oost B A; Smits A; Dreesen J C; Smeets D; Perdon L; van Bennekom C A; Dahl N; Bakker E; Oostra B A
Multipoint linkage analysis of DXS369 and DXS304 in fragile X families.
American journal of medical genetics 1991;38(2-3):328-31.
1991: Oostra B A; Majoor-Krakauer D F; van Hemel J O; Bakker E; Callen D F; Schmidt M; van Oost B A
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: Hoefsloot L H; Hoogeveen-Westerveld M; Oostra B A; Reuser A J
An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA).
Nucleic acids research 1991;19(3):682.
1991: Heutink P; Sandkuyl L A; van de Wetering B J; Oostra B A; Weber J; Wilkie P; Devor E J; Pakstis A J; Pauls D; Kidd K K
Linkage and Tourette syndrome.
Lancet 1991;337(8733):122-3.
1990: Hoefsloot L H; Hoogeveen-Westerveld M; Reuser A J; Oostra B A
Characterization of the human lysosomal alpha-glucosidase gene.
The Biochemical journal 1990;272(2):493-7.
1990: Hoefsloot L H; Willemsen R; Kroos M A; Hoogeveen-Westerveld M; Hermans M M; Van der Ploeg A T; Oostra B A; Reuser A J
Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.
The Biochemical journal 1990;272(2):485-92.
1990: Hoefsloot L H; Hoogeveen-Westerveld M; Sakuraba H; Suzuki Y; Oostra B A; Reuser A J
HindIII/EcoRI polymorphism in the GAA gene.
Nucleic acids research 1990;18(19):5921.
1990: Oostra B A; Sandkuyl L A; Halley D J
Risk calculation of missed prenatal diagnosis of fragile-X syndrome.
Prenatal diagnosis 1990;10(8):545-6.
1990: Heutink P; van de Wetering B J; Breedveld G J; Weber J; Sandkuyl L A; Devor E J; Heiberg A; Niermeijer M F; Oostra B A
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: Hupkes P E; van Bennekom C A; van Oost B A; Oostra B A
RN1, a new polymorphic marker near the fragile X locus. (HGM10 assignment DXS 369).
Nucleic acids research 1990;18(3):692.
1990: Hoefsloot L H; van der Ploeg A T; Kroos M A; Hoogeveen-Westerveld M; Oostra B A; Reuser A J
Adult and infantile glycogenosis type II in one family, explained by allelic diversity.
American journal of human genetics 1990;46(1):45-52.
1990: Oostra B A; Hupkes P E; Perdon L F; van Bennekom C A; Bakker E; Halley D J; Schmidt M; Du Sart D; Smits A; Wieringa B
New polymorphic DNA marker close to the fragile site FRAXA.
Genomics 1990;6(1):129-32.
1990: Devor E J; Grandy D K; Civelli O; Litt M; Burgess A K; Isenberg K E; van de Wetering B J; Oostra B
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.
1989: Datson N A; van der Saag P T; Oostra B A
RFLP for the human retinoic acid receptor gene RAR-beta.
Nucleic acids research 1989;17(21):8897.
1989: Halley D J; van Damme N H; Deelen W H; Oostra B A; Jahoda M G; Sachs E S; Los F J; Niermeijer M F
Prenatal detection of major cystic fibrosis mutation.
Lancet 1989;2(8669):972.
1988: Hoefsloot L H; Hoogeveen-Westerveld M; Kroos M A; van Beeumen J; Reuser A J; Oostra B A
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.
The EMBO journal 1988;7(6):1697-704.
1988: Morreau J; Sinaasappel M; Oostra B A; Halley D J
Cystic fibrosis: screening for a DNA deletion by field inversion gel electrophoresis.
Human genetics 1988;79(1):64-7.
1986: Halley D J; Morreau J; Neijens H J; van Swaay E; Sandkuyl L A; Oostra B A
[Prenatal diagnosis of cystic fibrosis using DNA analysis]
Nederlands tijdschrift voor geneeskunde 1986;130(50):2270-2.

Sign-in to see more

Sign-in free and Explore the Exciting World of BiomedExperts:

NetworkView

Ben Oostra

Research Profile (preview)

Disorders

Chemicals & Drugs

Concepts & Ideas

Physiology

Living Beings

Geographic Areas

Procedures

Anatomy

Network (preview)

Publications

Sign in free and see...

Visualized networks:

GeoTargeted Searches:

Research Profiles:

Geonetwork of Ben Oostra (preview)

All Publications