Frank Kooy

Frank Kooy

UNVERIFIED PROFILE

Are you Frank Kooy?   Register this Author

Register author
Frank Kooy

Frank Kooy

Publications by authors named "Frank Kooy"

Are you Frank Kooy?   Register this Author

99Publications

3116Reads

44Profile Views

PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.

Am J Med Genet A 2020 Mar 20;182(3):591-594. Epub 2019 Dec 20.

Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61463DOI Listing
March 2020

Single-Cell and Neuronal Network Alterations in an In Vitro Model of Fragile X Syndrome.

Cereb Cortex 2020 Jan;30(1):31-46

Molecular, Cellular, and Network Excitability Lab, University of Antwerp, Wilrijk, Flanders, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/cercor/bhz068DOI Listing
January 2020

Mutations in ADNP affect expression and subcellular localization of the protein.

Cell Cycle 2018 17;17(9):1068-1075. Epub 2018 Jul 17.

a Department of Medical Genetics , University of Antwerp , Antwerp , Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15384101.2018.1471313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110598PMC
December 2019

GABAergic abnormalities in the fragile X syndrome.

Eur J Paediatr Neurol 2019 Dec 24. Epub 2019 Dec 24.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2019.12.022DOI Listing
December 2019

Artemisia afra, a controversial herbal remedy or a treasure trove of new drugs?

J Ethnopharmacol 2019 Nov 31;244:112127. Epub 2019 Jul 31.

Unit for Drug Research and Development, School of Pharmacy, North-West University, Private Bag X6001, Potchefstroom, 2520, South Africa. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03788741193245
Publisher Site
http://dx.doi.org/10.1016/j.jep.2019.112127DOI Listing
November 2019

Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study.

Mol Psychiatry 2019 Oct 30. Epub 2019 Oct 30.

The First Lily and Avraham Gildor Chair for the Investigation of Growth Factors; The Elton Laboratory for Neuroendocrinology; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Sagol School of Neuroscience and Adams Super Center for Brain Studies, Tel Aviv University, Tel Aviv, 69978, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41380-019-0563-5DOI Listing
October 2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 Sep 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.

Eur J Med Genet 2019 Aug 6;62(8):103691. Epub 2019 Jun 6.

Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium; Center for Medical Genetics, University of Antwerp, Edegem, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.103691DOI Listing
August 2019

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.

Eur J Med Genet 2018 Apr 28;61(4):209-212. Epub 2017 Nov 28.

MIND Institute, University of California Davis, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212173035
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2017.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6991138PMC
April 2018

Fragile X syndrome.

Nat Rev Dis Primers 2017 Sep 29;3:17065. Epub 2017 Sep 29.

MIND Institute, UC Davis Health, University of California, Davis, 2826 50th Street, Sacramento, California 95817, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrdp.2017.65DOI Listing
September 2017

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome.

J Neurodev Disord 2017 Aug 2;9(1):26. Epub 2017 Aug 2.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis Medical Center, 2825 50th Street, Sacramento, CA, 95817, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s11689-017-9207-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540519PMC
August 2017

Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice.

Neuropharmacology 2017 04 21;116:71-81. Epub 2016 Dec 21.

Laboratory of Biological Psychology, KU Leuven, Leuven, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuropharm.2016.12.010DOI Listing
April 2017

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

Gene 2017 Mar 16;605:92-98. Epub 2016 Dec 16.

Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2016.12.013DOI Listing
March 2017

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.

Am J Med Genet B Neuropsychiatr Genet 2016 12 6;171(8):1049-1056. Epub 2016 Jul 6.

Department of Bioinformatics, Erasmus MC, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32473DOI Listing
December 2016

Thoracic dimples and dysmorphic features associated with a partial duplication and triplication of chromosome 12q24.

Clin Dysmorphol 2016 Oct;25(4):167-73

Departments of aPediatrics bMedical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
Publisher Site
http://dx.doi.org/10.1097/MCD.0000000000000141DOI Listing
October 2016

PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum.

Eur J Paediatr Neurol 2016 May 13;20(3):474-9. Epub 2016 Jan 13.

Department of Neurology-Pediatric Neurology, University and University Hospital Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.01.002DOI Listing
May 2016

A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples.

PLoS One 2015 14;10(4):e0123872. Epub 2015 Apr 14.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0123872PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397063PMC
April 2016

Multiplexed High Resolution Melting Assay for Versatile Sample Tracking in a Diagnostic and Research Setting.

J Mol Diagn 2016 Jan 21;18(1):32-8. Epub 2015 Nov 21.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2015.06.011DOI Listing
January 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
https://clinicforspecialchildren.org/wp-content/uploads/2015
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders.

Neuron 2015 Jun;86(5):1119-30

Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43, 2650 Edegem, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuron.2015.03.042DOI Listing
June 2015

Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials.

Neuropharmacology 2015 Jan 10;88:48-54. Epub 2014 Jul 10.

Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43, 2650 Edegem, Antwerp, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuropharm.2014.06.028DOI Listing
January 2015

VariantDB: a flexible annotation and filtering portal for next generation sequencing data.

Genome Med 2014 2;6(10):74. Epub 2014 Oct 2.

Department of Medical Genetics, University of Antwerp, 2650 Edegem, Antwerp Belgium.

View Article

Download full-text PDF

Source
http://genomemedicine.biomedcentral.com/articles/10.1186/s13
Publisher Site
http://dx.doi.org/10.1186/s13073-014-0074-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210545PMC
October 2014

Effect of acute stresses on zebra fish (Danio rerio) metabolome measured by NMR-based metabolomics.

Planta Med 2014 Sep 6;80(14):1227-33. Epub 2014 Aug 6.

Natural Products Laboratory, Institute of Biology, Leiden University, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0034-1382878DOI Listing
September 2014

Fragile X syndrome neurobiology translates into rational therapy.

Drug Discov Today 2014 Apr 7;19(4):510-9. Epub 2014 Feb 7.

Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43, Antwerp, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.drudis.2014.01.013DOI Listing
April 2014

The complexity of medicinal plants: the traditional Artemisia annua formulation, current status and future perspectives.

J Ethnopharmacol 2013 Oct 20;150(1):1-13. Epub 2013 Aug 20.

Centre for Complementary Medicine Research, University of Western Sydney, Locked Bag 1797, Penrith, NSW 2751, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jep.2013.08.021DOI Listing
October 2013

Phytochemistry of the carnivorous sundew genus Drosera (Droseraceae) - future perspectives and ethnopharmacological relevance.

Chem Biodivers 2013 Oct;10(10):1774-90

Department of Botany, School of Natural Sciences, Trinity College Dublin, IE-Dublin 2; Trinity Centre for Biodiversity Research, Trinity College Dublin, IE-Dublin 2.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/cbdv.201200359DOI Listing
October 2013

Developmental effects of cannabinoids on zebrafish larvae.

Zebrafish 2013 Sep 22;10(3):283-93. Epub 2013 Jun 22.

Institute of Biology, Leiden University, Leiden, The Netherlands .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/zeb.2012.0785DOI Listing
September 2013

Is artemisinin the only antiplasmodial compound in the Artemisia annua tea infusion? An in vitro study.

Planta Med 2013 Apr 19;79(6):468-70. Epub 2013 Mar 19.

Natural Products Laboratory, Institute of Biology, Leiden University, Leiden, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0032-1328324DOI Listing
April 2013

The use of bio-guided fractionation to explore the use of leftover biomass in Dutch flower bulb production as allelochemicals against weeds.

Molecules 2013 Apr 17;18(4):4510-25. Epub 2013 Apr 17.

Natural Product Laboratory, Institute of Biology, Leiden University, 2300 RA Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/molecules18044510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269756PMC
April 2013

Detection and interpretation of genomic structural variation in health and disease.

Expert Rev Mol Diagn 2013 Jan;13(1):61-82

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.1586/erm.12.119
Publisher Site
http://dx.doi.org/10.1586/erm.12.119DOI Listing
January 2013

On the spot: very local chromosomal rearrangements.

F1000 Biol Rep 2012 1;4:22. Epub 2012 Nov 1.

Cognitive Genetics, Department of Medical Genetics, University of Antwerp Prins Boudewijnlaan 43, B-2650 Edegem, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3410/B4-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505860PMC
November 2012

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Autism Res 2012 Aug 11;5(4):277-81. Epub 2012 Jun 11.

Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/aur.1240DOI Listing
August 2012

Ethnopharmacology in overdrive: the remarkable anti-HIV activity of Artemisia annua.

J Ethnopharmacol 2012 Jun 24;141(3):854-9. Epub 2012 Mar 24.

Natural Products Laboratory, Institute of Biology, Leiden University, PO Box 9502, 2333 CC Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jep.2012.03.024DOI Listing
June 2012

The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

Am J Hum Genet 2012 Jun 17;90(6):1071-8. Epub 2012 May 17.

Department of Medical Genetics, University Hospital of Antwerp, University of Antwerp, Edegem, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2012.04.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370266PMC
June 2012

Coproduction and ecological significance of naphthoquinones in carnivorous sundews (Drosera).

Chem Biodivers 2012 Jun;9(6):1033-44

Natural Products Laboratory, Institute of Biology, Leiden University, NL-2300 RA Leiden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/cbdv.201100274DOI Listing
June 2012

A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA.

Epilepsy Res 2012 May 13;99(3):346-9. Epub 2012 Jan 13.

Department of Medical Genetics, University of and University Hospital of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2011.12.009DOI Listing
May 2012

Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model.

Behav Brain Res 2012 Apr 21;229(1):244-9. Epub 2012 Jan 21.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbr.2012.01.031DOI Listing
April 2012

Advances in understanding fragile X syndrome and related disorders.

Curr Opin Pediatr 2011 Dec;23(6):601-6

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MOP.0b013e32834c7f1aDOI Listing
December 2011

Metabonomics adds a new dimension to fragile X syndrome.

Genome Med 2011 Dec 28;3(12):80. Epub 2011 Dec 28.

Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43, 2650 Edegem, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gm296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334545PMC
December 2011

The content of artemisinin in the Artemisia annua tea infusion.

Planta Med 2011 Oct 3;77(15):1754-6. Epub 2011 May 3.

Division of Pharmacognosy, Section of Metabolomics, Institute of Biology, Leiden University, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0030-1271065DOI Listing
October 2011

Renewable energy from Cyanobacteria: energy production optimization by metabolic pathway engineering.

Appl Microbiol Biotechnol 2011 Aug 21;91(3):471-90. Epub 2011 Jun 21.

Division of Pharmacognosy, Section of Metabolomics, Institute of Biology, Leiden University, PO Box 9502, 2300RA Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00253-011-3394-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3136707PMC
August 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.

Am J Med Genet A 2011 Feb 14;155A(2):343-8. Epub 2011 Jan 14.

Department of Medical Genetics, University of Antwerp and University Hospital, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33810
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33810DOI Listing
February 2011

Comparative quantitative analysis of artemisinin by chromatography and qNMR.

Phytochem Anal 2010 Sep-Oct;21(5):451-6

Division of Pharmacognosy, Section of Metabolomics, Institute of Biology, Leiden University, PO Box 9502, 2300RA Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pca.1217DOI Listing
January 2011

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.

Eur J Med Genet 2010 Sep-Oct;53(5):291-3. Epub 2010 Jun 4.

Department of Medical Genetics, University of Antwerp, University Hospital Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972121000049
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2010.05.006DOI Listing
January 2011

Fragile X syndrome: from gene discovery to therapy.

Front Biosci (Landmark Ed) 2011 Jan 1;16:1211-32. Epub 2011 Jan 1.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2741/3785DOI Listing
January 2011

CNV-WebStore: online CNV analysis, storage and interpretation.

BMC Bioinformatics 2011 Jan 5;12. Epub 2011 Jan 5.

Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2105-12-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3024943PMC
January 2011

Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome.

ScientificWorldJournal 2010 Nov 4;10:2198-206. Epub 2010 Nov 4.

Department of Medical Genetics, University of Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1100/tsw.2010.211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763973PMC
November 2010

Metabolomic investigation of the ethnopharmacological use of Artemisia afra with NMR spectroscopy and multivariate data analysis.

J Ethnopharmacol 2010 Mar 14;128(1):230-5. Epub 2010 Jan 14.

Division of Pharmacognosy, Section of Metabolomics, Institute of Biology, Leiden University, PO Box 9502, Einsteinweg 55, 2333CC Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jep.2010.01.020DOI Listing
March 2010

Distinct disorders affecting the brain share common genetic origins.

Authors:
R Frank Kooy

F1000 Biol Rep 2010 Feb 11;2. Epub 2010 Feb 11.

Department of Medical Genetics, University of Antwerp, Universiteitsplein 1 2610 Antwerp Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3410/B2-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948356PMC
February 2010

Hydroxylation and further oxidation of delta9-tetrahydrocannabinol by alkane-degrading bacteria.

Appl Environ Microbiol 2009 Nov 18;75(22):7135-41. Epub 2009 Sep 18.

Department of Pharmacognosy, IBL Leiden University, P.O. Box 9502, 2300 RA Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1128/AEM.01277-09DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2786519PMC
November 2009

The complexity of the GABAA receptor shapes unique pharmacological profiles.

Drug Discov Today 2009 Sep 2;14(17-18):866-75. Epub 2009 Jul 2.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.drudis.2009.06.009DOI Listing
September 2009

Balanced translocations in mental retardation.

Hum Genet 2009 Jul 5;126(1):133-47. Epub 2009 Apr 5.

Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-009-0661-6DOI Listing
July 2009

Quality control of herbal material and phytopharmaceuticals with MS and NMR based metabolic fingerprinting.

Planta Med 2009 Jun 13;75(7):763-75. Epub 2009 Mar 13.

Division of Pharmacognosy, Section of Metabolomics, Institute of Biology, Leiden University, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0029-1185450DOI Listing
June 2009

Solvent derived artifacts in natural products chemistry.

Nat Prod Commun 2009 Mar;4(3):447-54

Division of Pharmacognosy, Section of Metabolomics, Institute of Biology, Leiden University, P.O. Box 9502, 2300RA Leiden, The Netherlands.

View Article

Download full-text PDF

Source
March 2009

GABA neurotransmitter signaling in the developing mouse lens: dynamic regulation of components and functionality.

Dev Dyn 2008 Dec;237(12):3830-41

Laboratory of Molecular Biology and Genetics, Department of Gene Technology and Developmental Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/dvdy.21768DOI Listing
December 2008