Publications by authors named "Frederique Béna"

44Publications

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Authors:
Isabelle Cleynen Worrawat Engchuan Matthew S Hestand Tracy Heung Aaron M Holleman H Richard Johnston Thomas Monfeuga Donna M McDonald-McGinn Raquel E Gur Bernice E Morrow Ann Swillen Jacob A S Vorstman Carrie E Bearden Eva W C Chow Marianne van den Bree Beverly S Emanuel Joris R Vermeesch Stephen T Warren Michael J Owen Pankaj Chopra David J Cutler Richard Duncan Alex V Kotlar Jennifer G Mulle Anna J Voss Michael E Zwick Alexander Diacou Aaron Golden Tingwei Guo Jhih-Rong Lin Tao Wang Zhengdong Zhang Yingjie Zhao Christian Marshall Daniele Merico Andrea Jin Brenna Lilley Harold I Salmons Oanh Tran Peter Holmans Antonio Pardinas James T R Walters Wolfram Demaerel Erik Boot Nancy J Butcher Gregory A Costain Chelsea Lowther Rens Evers Therese A M J van Amelsvoort Esther van Duin Claudia Vingerhoets Jeroen Breckpot Koen Devriendt Elfi Vergaelen Annick Vogels T Blaine Crowley Daniel E McGinn Edward M Moss Robert J Sharkus Marta Unolt Elaine H Zackai Monica E Calkins Robert S Gallagher Ruben C Gur Sunny X Tang Rosemarie Fritsch Claudia Ornstein Gabriela M Repetto Elemi Breetvelt Sasja N Duijff Ania Fiksinski Hayley Moss Maria Niarchou Kieran C Murphy Sarah E Prasad Eileen M Daly Maria Gudbrandsen Clodagh M Murphy Declan G Murphy Antonio Buzzanca Fabio Di Fabio Maria C Digilio Maria Pontillo Bruno Marino Stefano Vicari Karlene Coleman Joseph F Cubells Opal Y Ousley Miri Carmel Doron Gothelf Ehud Mekori-Domachevsky Elena Michaelovsky Ronnie Weinberger Abraham Weizman Leila Kushan Maria Jalbrzikowski Marco Armando Stéphan Eliez Corrado Sandini Maude Schneider Frédérique Sloan Béna Kevin M Antshel Wanda Fremont Wendy R Kates Raoul Belzeaux Tiffany Busa Nicole Philip Linda E Campbell Kathryn L McCabe Stephen R Hooper Kelly Schoch Vandana Shashi Tony J Simon Flora Tassone Celso Arango David Fraguas Sixto García-Miñaúr Jaume Morey-Canyelles Jordi Rosell Damià H Suñer Jasna Raventos-Simic Michael P Epstein Nigel M Williams Anne S Bassett

Mol Psychiatry 2020 Feb 3. Epub 2020 Feb 3.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41380-020-0654-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396297PMC
February 2020

Heterozygous Deletion of Chorein Exons 70-73 and GNA14 Exons 3-7 in a Brazilian Patient Presenting With Probable Tau-Negative Early-Onset Alzheimer Disease.

Alzheimer Dis Assoc Disord 2017 Jan-Mar;31(1):82-85

Departments of *Medical Direction §Mental Health and Psychiatry ∥Medical Genetic and Laboratories University Hospitals of Geneva ¶Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva †Affidea CDR-Radiological diagnostic center of Carouge, Geneva, Switzerland ‡Department of Surgical Sciences Radiology, Uppsala University Uppsala, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WAD.0000000000000185DOI Listing
February 2019

Heterozygous Chorein Deficiency in Probable Tau-negative Early-onset Alzheimer Disease.

Alzheimer Dis Assoc Disord 2016 Jul-Sep;30(3):272-5

Departments of *Mental Health and Psychiatry, Division of General Psychiatry †Imaging and Medical Informatics, University Hospitals of Geneva, Faculty of Medicine of the University of Geneva ‡Department of Medical Genetic and Laboratories, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035148PMC
http://dx.doi.org/10.1097/WAD.0000000000000130DOI Listing
March 2018

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

Am J Med Genet A 2014 Mar 20;164A(3):801-5. Epub 2013 Dec 20.

Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36357DOI Listing
March 2014

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.

Hum Mutat 2012 Aug 15;33(8):1302-9. Epub 2012 Jun 15.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22115DOI Listing
August 2012

A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis.

Horm Res Paediatr 2012 22;78(3):188-92. Epub 2012 Mar 22.

Endocrine and Diabetes Unit, Department of Pediatrics, University Hospital of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000336925DOI Listing
May 2013

Aluminium chloride promotes anchorage-independent growth in human mammary epithelial cells.

J Appl Toxicol 2012 Mar 6;32(3):233-43. Epub 2012 Jan 6.

Division of Oncology, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jat.1793DOI Listing
March 2012

Developmental expression and organisation of fibrinogen genes in the zebrafish.

Thromb Haemost 2012 Jan 24;107(1):158-66. Epub 2011 Nov 24.

Department of Genetic Medicine and Development, University of Geneva Medical Centre, 1, rue Michel-Servet, 1211 Geneva 4, Switzerland.

View Article

Download full-text PDF

Source
http://www.schattauer.de/index.php?id=1214&doi=10.1160/T
Publisher Site
http://dx.doi.org/10.1160/TH11-04-0221DOI Listing
January 2012

Initiation of prenatal genetic diagnosis of chromosomal anomalies in Cameroon.

Int J Gynaecol Obstet 2012 Feb 9;116(2):174-5. Epub 2011 Nov 9.

Faculty of Medicine and Biomedical Sciences, University of Yaoundé, Yaoundé Cameroon.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijgo.2011.10.006DOI Listing
February 2012

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

Down syndrome: parental origin, recombination, and maternal age.

Genet Test Mol Biomarkers 2012 Jan 23;16(1):70-3. Epub 2011 Aug 23.

Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2011.0066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3265771PMC
January 2012

Reshuffling genomic landscapes to study the regulatory evolution of Hox gene clusters.

Proc Natl Acad Sci U S A 2011 Jun 13;108(26):10632-7. Epub 2011 Jun 13.

National Research Centre Frontiers in Genetics, Department of Genetics and Evolution, University of Geneva, Sciences III, 1211 Geneva 4, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1102985108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127922PMC
June 2011

Initiation of a medical genetics service in sub-Saharan Africa: experience of prenatal diagnosis in Cameroon.

Eur J Med Genet 2011 Jul-Aug;54(4):e399-404. Epub 2011 Apr 5.

Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Cameroon.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.03.013DOI Listing
October 2011

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.

Hum Mol Genet 2010 May 23;19(10):1967-73. Epub 2010 Feb 23.

Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/ddq075DOI Listing
May 2010

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.

Eur J Med Genet 2009 Jan-Feb;52(1):49-52. Epub 2008 Oct 21.

Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambery Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.10.001DOI Listing
April 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features.

Am J Med Genet A 2007 Aug;143A(16):1894-9

Service of Medical Genetics, Department of Gynecology and Obstetrics, Geneva University Hospitals, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31789DOI Listing
August 2007

[Rapid prenatal diagnosis of chromosome abnormalities: from FISH to QF-PCR].

Rev Med Suisse 2005 Mar;1(11):785-8

Service de génétique médicale, Laboratoire de cytogénétique, HUG, 1211 Genève 4.

View Article

Download full-text PDF

Source
March 2005

Comparative analysis of early embryonic sunflower cDNA libraries.

Plant Mol Biol 2005 Jan;57(2):255-70

Institut National Polytechnique de Toulouse, Ecole Nationale Supérieure de Toulouse, IFR40, 18 Chemin de Borde Rouge, 31326 Castanet Tolosan, France.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s11103-004-7532
Web Search
http://link.springer.com/10.1007/s11103-004-7532-2
Publisher Site
http://dx.doi.org/10.1007/s11103-004-7532-2DOI Listing
January 2005

Large-scale phagemid conversion on solid medium.

Biotechniques 2003 Sep;35(3):462-4

IBMP-CNRS, 12, rue du Général Zimmer, 67084, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2144/03353bm04DOI Listing
September 2003