Sebastien Jacquemont

Sebastien Jacquemont

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Sebastien Jacquemont

Publications by authors named "Sebastien Jacquemont"

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Tinkering with the vasopressin pathway in autism.

Sci Transl Med 2019 May;11(491)

CHU Sainte-Justine Research Center, Montréal, Quebec H3T 1C5, Canada.

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http://dx.doi.org/10.1126/scitranslmed.aax7315DOI Listing
May 2019

Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.

Transl Psychiatry 2019 03 5;9(1):107. Epub 2019 Mar 5.

Division of Psychological Medicine and Clinical Neurosciences, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1038/s41398-019-0441-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400999PMC
March 2019

Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale.

Mov Disord Clin Pract 2019 Feb 22;6(2):120-124. Epub 2019 Jan 22.

Department of Neurology University of Colorado School of Medicine Aurora Colorado United States.

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http://doi.wiley.com/10.1002/mdc3.12708
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http://dx.doi.org/10.1002/mdc3.12708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384171PMC
February 2019

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Authors:
Ida E Sønderby Ómar Gústafsson Nhat Trung Doan Derrek P Hibar Sandra Martin-Brevet Abdel Abdellaoui David Ames Katrin Amunts Michael Andersson Nicola J Armstrong Manon Bernard Nicholas Blackburn John Blangero Dorret I Boomsma Janita Bralten Hans-Richard Brattbak Henry Brodaty Rachel M Brouwer Robin Bülow Vince Calhoun Svenja Caspers Gianpiero Cavalleri Chi-Hua Chen Sven Cichon Simone Ciufolini Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Anders M Dale Shareefa Dalvie Paola Dazzan Eco J C de Geus Greig I de Zubicaray Sonja M C de Zwarte Norman Delanty Anouk den Braber Sylvane Desrivières Gary Donohoe Bogdan Draganski Stefan Ehrlich Thomas Espeseth Simon E Fisher Barbara Franke Vincent Frouin Masaki Fukunaga Thomas Gareau David C Glahn Hans Grabe Nynke A Groenewold Jan Haavik Asta Håberg Ryota Hashimoto Jayne Y Hehir-Kwa Andreas Heinz Manon H J Hillegers Per Hoffmann Laurena Holleran Jouke-Jan Hottenga Hilleke E Hulshoff Masashi Ikeda Neda Jahanshad Terry Jernigan Christiane Jockwitz Stefan Johansson Gudrun A Jonsdottir Erik G Jönsson Rene Kahn Tobias Kaufmann Sinead Kelly Masataka Kikuchi Emma E M Knowles Knut K Kolskår John B Kwok Stephanie Le Hellard Costin Leu Jingyu Liu Astri J Lundervold Arvid Lundervold Nicholas G Martin Karen Mather Samuel R Mathias Mark McCormack Katie L McMahon Allan McRae Yuri Milaneschi Clara Moreau Derek Morris David Mothersill Thomas W Mühleisen Robin Murray Jan E Nordvik Lars Nyberg Loes M Olde Loohuis Roel Ophoff Tomas Paus Zdenka Pausova Brenda Penninx Juan M Peralta Bruce Pike Carlos Prieto Sara Pudas Erin Quinlan Daniel S Quintana Céline S Reinbold Tiago Reis Marques Alexandre Reymond Genevieve Richard Borja Rodriguez-Herreros Roberto Roiz-Santiañez Jarek Rokicki James Rucker Perminder Sachdev Anne-Marthe Sanders Sigrid B Sando Lianne Schmaal Peter R Schofield Andrew J Schork Gunter Schumann Jean Shin Elena Shumskaya Sanjay Sisodiya Vidar M Steen Dan J Stein Stacy Steinberg Lachlan Strike Alexander Teumer Anbu Thalamuthu Diana Tordesillas-Gutierrez Jessica Turner Torill Ueland Anne Uhlmann Magnus O Ulfarsson Dennis van 't Ent Dennis van der Meer Neeltje E M van Haren Anja Vaskinn Evangelos Vassos G Bragi Walters Yunpeng Wang Wei Wen Christopher D Whelan Katharina Wittfeld Margie Wright Hidenaga Yamamori Tetyana Zayats Ingrid Agartz Lars T Westlye Sébastien Jacquemont Srdjan Djurovic Hreinn Stefánsson Kári Stefánsson Paul Thompson Ole A Andreassen

Mol Psychiatry 2019 Jan 31. Epub 2019 Jan 31.

NORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41380-019-0358-8DOI Listing
January 2019

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Authors:
Ida E Sønderby Ómar Gústafsson Nhat Trung Doan Derrek P Hibar Sandra Martin-Brevet Abdel Abdellaoui David Ames Katrin Amunts Michael Andersson Nicola J Armstrong Manon Bernard Nicholas Blackburn John Blangero Dorret I Boomsma Janita Bralten Hans-Richard Brattbak Henry Brodaty Rachel M Brouwer Robin Bülow Vince Calhoun Svenja Caspers Gianpiero Cavalleri Chi-Hua Chen Sven Cichon Simone Ciufolini Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Anders M Dale Shareefa Dalvie Paola Dazzan Eco J C de Geus Greig I de Zubicaray Sonja M C de Zwarte Norman Delanty Anouk den Braber Sylvane Desrivières Gary Donohoe Bogdan Draganski Stefan Ehrlich Thomas Espeseth Simon E Fisher Barbara Franke Vincent Frouin Masaki Fukunaga Thomas Gareau David C Glahn Hans Grabe Nynke A Groenewold Jan Haavik Asta Håberg Ryota Hashimoto Jayne Y Hehir-Kwa Andreas Heinz Manon H J Hillegers Per Hoffmann Laurena Holleran Jouke-Jan Hottenga Hilleke E Hulshoff Masashi Ikeda Neda Jahanshad Terry Jernigan Christiane Jockwitz Stefan Johansson Gudrun A Jonsdottir Erik G Jönsson Rene Kahn Tobias Kaufmann Sinead Kelly Masataka Kikuchi Emma E M Knowles Knut K Kolskår John B Kwok Stephanie Le Hellard Costin Leu Jingyu Liu Astri J Lundervold Arvid Lundervold Nicholas G Martin Karen Mather Samuel R Mathias Mark McCormack Katie L McMahon Allan McRae Yuri Milaneschi Clara Moreau Derek Morris David Mothersill Thomas W Mühleisen Robin Murray Jan E Nordvik Lars Nyberg Loes M Olde Loohuis Roel Ophoff Tomas Paus Zdenka Pausova Brenda Penninx Juan M Peralta Bruce Pike Carlos Prieto Sara Pudas Erin Quinlan Daniel S Quintana Céline S Reinbold Tiago Reis Marques Alexandre Reymond Genevieve Richard Borja Rodriguez-Herreros Roberto Roiz-Santiañez Jarek Rokicki James Rucker Perminder Sachdev Anne-Marthe Sanders Sigrid B Sando Lianne Schmaal Peter R Schofield Andrew J Schork Gunter Schumann Jean Shin Elena Shumskaya Sanjay Sisodiya Vidar M Steen Dan J Stein Stacy Steinberg Lachlan Strike Alexander Teumer Anbu Thalamuthu Diana Tordesillas-Gutierrez Jessica Turner Torill Ueland Anne Uhlmann Magnus O Ulfarsson Dennis van 't Ent Dennis van der Meer Neeltje E M van Haren Anja Vaskinn Evangelos Vassos G Bragi Walters Yunpeng Wang Wei Wen Christopher D Whelan Katharina Wittfeld Margie Wright Hidenaga Yamamori Tetyana Zayats Ingrid Agartz Lars T Westlye Sébastien Jacquemont Srdjan Djurovic Hreinn Stefánsson Kári Stefánsson Paul Thompson Ole A Andreassen

Mol Psychiatry 2018 Oct 3. Epub 2018 Oct 3.

NORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.

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http://www.nature.com/articles/s41380-018-0118-1
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http://dx.doi.org/10.1038/s41380-018-0118-1DOI Listing
October 2018

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Biol Psychiatry 2018 08 27;84(4):253-264. Epub 2018 Mar 27.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland; CHU Sainte-Justine Research Center, Université de Montréal, Montréal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2018.02.1176DOI Listing
August 2018

The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention.

CMAJ 2018 Jun;190(23):E710-E717

School of Population and Public Health (Dummer), University of British Columbia, Vancouver, BC; Ontario Institute for Cancer Research (Awadalla); CARTaGENE (Boileau), Montréal, Que.; Research Institute of the McGill University Health Centre (Craig, Fortier); Research and Innovation, University of Toronto (Goel); Ontario Agency for Health Protection and Promotion (Goel); Atlantic PATH, Dalhousie University (Hicks), Halifax, NS; Centre hospitalier universitaire Sainte-Justine (Jacquemont); Centre of Genomics and Policy, McGill University (Knoppers, Zawati), Montréal, Que.; BC Cancer Research Centre (Le, McDonald), Vancouver, BC; Public Health Ontario (McLaughlin), Toronto, Ont.; Institut du cancer de Montréal, Université de Montréal (Mes-Masson); Pediatrics, CHU Sainte-Justine Research Center (Nuyt), Montréal, Que.; School of Public Health, University of Adelaide (Palmer), Adelaide, Australia; Department of Medicine, Dalhousie University (Parker); Division of Cancer Epidemiology and Genetics, National Cancer Institute (Purdue), Bethesda, Md.; CancerControl Alberta, Alberta Health Services (Robson, Vena), Edmonton, Alta.; Population Oncology, BC Cancer (Spinelli), Vancouver, BC; Atlantic PATH, Dalhousie University (Thompson), Halifax, NS.

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http://dx.doi.org/10.1503/cmaj.170292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995593PMC
June 2018

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.

Authors:
Aurélien Macé Marcus A Tuke Patrick Deelen Kati Kristiansson Hannele Mattsson Margit Nõukas Yadav Sapkota Ursula Schick Eleonora Porcu Sina Rüeger Aaron F McDaid David Porteous Thomas W Winkler Erika Salvi Nick Shrine Xueping Liu Wei Q Ang Weihua Zhang Mary F Feitosa Cristina Venturini Peter J van der Most Anders Rosengren Andrew R Wood Robin N Beaumont Samuel E Jones Katherine S Ruth Hanieh Yaghootkar Jessica Tyrrell Aki S Havulinna Harmen Boers Reedik Mägi Jennifer Kriebel Martina Müller-Nurasyid Markus Perola Markku Nieminen Marja-Liisa Lokki Mika Kähönen Jorma S Viikari Frank Geller Jari Lahti Aarno Palotie Päivikki Koponen Annamari Lundqvist Harri Rissanen Erwin P Bottinger Saima Afaq Mary K Wojczynski Petra Lenzini Ilja M Nolte Thomas Sparsø Nicole Schupf Kaare Christensen Thomas T Perls Anne B Newman Thomas Werge Harold Snieder Timothy D Spector John C Chambers Seppo Koskinen Mads Melbye Olli T Raitakari Terho Lehtimäki Martin D Tobin Louise V Wain Juha Sinisalo Annette Peters Thomas Meitinger Nicholas G Martin Naomi R Wray Grant W Montgomery Sarah E Medland Morris A Swertz Erkki Vartiainen Katja Borodulin Satu Männistö Anna Murray Murielle Bochud Sébastien Jacquemont Fernando Rivadeneira Thomas F Hansen Albertine J Oldehinkel Massimo Mangino Michael A Province Panos Deloukas Jaspal S Kooner Rachel M Freathy Craig Pennell Bjarke Feenstra David P Strachan Guillaume Lettre Joel Hirschhorn Daniele Cusi Iris M Heid Caroline Hayward Katrin Männik Jacques S Beckmann Ruth J F Loos Dale R Nyholt Andres Metspalu Johan G Eriksson Michael N Weedon Veikko Salomaa Lude Franke Alexandre Reymond Timothy M Frayling Zoltán Kutalik

Nat Commun 2017 09 29;8(1):744. Epub 2017 Sep 29.

Institute of Social and Preventive Medicine, Lausanne University Hospital, Lausanne, 1010, Switzerland.

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http://dx.doi.org/10.1038/s41467-017-00556-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622064PMC
September 2017

Robust thalamic nuclei segmentation method based on local diffusion magnetic resonance properties.

Brain Struct Funct 2017 07 25;222(5):2203-2216. Epub 2016 Nov 25.

Department of Radiology, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), 1011, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00429-016-1336-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504280PMC
July 2017

Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity.

Int J Dev Neurosci 2017 Jun 19;59:52-59. Epub 2017 Mar 19.

Departement de Psychologie, Université de Montréal, Montreal, Canada; Neuroscience of Early Development (NED), Montreal, Canada; Centre de Recherche en Neuropsychologie et Cognition (CERNEC), Montreal, Canada; Research Center of the CHU Ste-Justine Mother and Child University Hospital Center, Université de Montreal, Quebec, Canada; International Laboratory for Brain, Music and Sound Research (BRAMS), Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ijdevneu.2017.03.008DOI Listing
June 2017

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

Am J Med Genet A 2015 Dec 11;167A(12):3076-81. Epub 2015 Sep 11.

Inserm, Institut Cochin, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37364DOI Listing
December 2015

Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome.

Neuron 2015 Jul;87(2):382-98

Center for Human Genetics and Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven, 3000 Leuven, Belgium; VIB Center for the Biology of Disease, 3000 Leuven, Belgium; Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2015.06.032DOI Listing
July 2015

Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism.

Mol Autism 2015 5;6:33. Epub 2015 Jun 5.

Centre de Recherche de l'Institut Universitaire en Santé Mentale de Montréal, Québec, Canada.

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http://dx.doi.org/10.1186/s13229-015-0024-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4456778PMC
June 2015

Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers.

Neurobiol Aging 2014 Aug 5;35(8):1939-46. Epub 2014 Feb 5.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.01.150DOI Listing
August 2014

Translating molecular advances in fragile X syndrome into therapy: a review.

J Clin Psychiatry 2014 Apr;75(4):e294-307

Department of Pediatrics and MIND Institute, School of Medicine, University of California, Davis.

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http://www.psychiatrist.com/privatepdf/2014/v75n04/v75n0402.
Web Search
http://article.psychiatrist.com/?ContentType=START&ID=10
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http://dx.doi.org/10.4088/JCP.13r08714DOI Listing
April 2014

The challenges of clinical trials in fragile X syndrome.

Psychopharmacology (Berl) 2014 Mar 31;231(6):1237-50. Epub 2013 Oct 31.

Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, 1011, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00213-013-3289-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932172PMC
March 2014

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.

Am J Hum Genet 2014 Mar 27;94(3):415-25. Epub 2014 Feb 27.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140005
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http://dx.doi.org/10.1016/j.ajhg.2014.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951938PMC
March 2014

Development of mavoglurant and its potential for the treatment of fragile X syndrome.

Expert Opin Investig Drugs 2014 Jan 20;23(1):125-34. Epub 2013 Nov 20.

Novartis Institutes for BioMedical Research Basel, Forum 1 , Novartis Campus, CH-4056 Basel , Switzerland +41 61 324 0164 ; +41 61 324 8913 ;

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http://dx.doi.org/10.1517/13543784.2014.857400DOI Listing
January 2014

Transmission disequilibrium of small CNVs in simplex autism.

Am J Hum Genet 2013 Oct 12;93(4):595-606. Epub 2013 Sep 12.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791263PMC
October 2013

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.

Front Genet 2013 30;4:92. Epub 2013 May 30.

Genetics Core, Nestlé Institute of Health Sciences Lausanne, Switzerland.

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http://dx.doi.org/10.3389/fgene.2013.00092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667386PMC
June 2013

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Nat Genet 2011 Dec 11;44(1):85-8. Epub 2011 Dec 11.

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/ng.1016DOI Listing
December 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.

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

Familial aplasia of the trapezius muscle: clinical and MRI findings.

Acta Paediatr 2011 Mar 18;100(3):464-6. Epub 2010 Oct 18.

Pediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland.

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http://doi.wiley.com/10.1111/j.1651-2227.2010.02043.x
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http://dx.doi.org/10.1111/j.1651-2227.2010.02043.xDOI Listing
March 2011

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.

Eur J Med Genet 2010 Sep-Oct;53(5):294-8. Epub 2010 Jun 11.

Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ejmg.2010.06.005DOI Listing
January 2011

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.

J Inherit Metab Dis 2010 Dec 11;33 Suppl 3:S219-26. Epub 2010 May 11.

Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, CI 02-35, Av P Decker 2, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s10545-010-9098-2DOI Listing
December 2010

Preimplantation genetic diagnosis (PGD) for HLA typing: bases for setting up an open international collaboration when PGD is not available.

Fertil Steril 2010 Aug 13;94(3):1129-31. Epub 2010 Jan 13.

Reproductive Endocrinology and Infertility, Department of Gynecology-Obstetrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.fertnstert.2009.11.007DOI Listing
August 2010

[Array CGH: why and to whom].

Rev Med Suisse 2010 Feb;6(237):390-2, 394-6

Service de génétique médicale et Département médico-chirurgical de pédiatrie, CHUV, 1011 Lausanne.

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February 2010

Lifespan changes in working memory in fragile X premutation males.

Brain Cogn 2009 Apr 27;69(3):551-8. Epub 2008 Dec 27.

Neuroscience Laboratory for Research and Education in Developmental Disorders, McGill University, 3700 McTavish Street, Montreal, Que., Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S027826260800327
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http://dx.doi.org/10.1016/j.bandc.2008.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158922PMC
April 2009

The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome.

J Clin Sleep Med 2009 Apr;5(2):145-50

Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California Davis Health System, Sacramento, CA 95817, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2670334PMC
April 2009

Early neurological impairment and severe anemia in a newborn with Pearson syndrome.

Eur J Pediatr 2009 Mar 14;168(3):311-5. Epub 2008 Jun 14.

Division of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, CHUV, 1011, Lausanne, Switzerland.

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http://link.springer.com/10.1007/s00431-008-0756-4
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http://dx.doi.org/10.1007/s00431-008-0756-4DOI Listing
March 2009

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

Eur J Hum Genet 2008 Jul 20;16(7):865-8. Epub 2008 Feb 20.

Laboratoire de biochimie et génétique moléculaire, hôpital Cochin, APHP, Paris, France.

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http://www.nature.com/articles/ejhg200815
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http://dx.doi.org/10.1038/ejhg.2008.15DOI Listing
July 2008

Age-dependent cognitive changes in carriers of the fragile X syndrome.

Cortex 2008 Jun 23;44(6):628-36. Epub 2007 Dec 23.

Neuroscience Laboratory for Research and Education in Developmental Disorders, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1016/j.cortex.2006.11.002DOI Listing
June 2008

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.

Lancet Neurol 2007 Jan;6(1):45-55

Service de Génétique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/S1474-4422(06)70676-7DOI Listing
January 2007

Size bias of fragile X premutation alleles in late-onset movement disorders.

J Med Genet 2006 Oct 24;43(10):804-9. Epub 2006 May 24.

Service de Génétique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1136/jmg.2006.042374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563171PMC
October 2006

Screening for FXTAS.

Eur J Hum Genet 2005 Jan;13(1):2-3

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http://www.nature.com/articles/5201318
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http://dx.doi.org/10.1038/sj.ejhg.5201318DOI Listing
January 2005

Inherited ring chromosome 8 without loss of subtelomeric sequences.

Ann Genet 2004 Jul-Sep;47(3):289-96

Service de Génétique Médicale, Plateau Technique, Centre Hospitalo-Universitaire, 9, quai Moncousu, 44093 Nantes cedex, France.

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http://dx.doi.org/10.1016/j.anngen.2003.10.005DOI Listing
October 2004

Screen for expanded FMR1 alleles in patients with essential tremor.

Mov Disord 2004 Aug;19(8):930-3

Department of Biological Chemistry, University of California, Davis, School of Medicine, Davis, California 95616, USA.

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http://dx.doi.org/10.1002/mds.20043DOI Listing
August 2004

Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.

AJNR Am J Neuroradiol 2002 Nov-Dec;23(10):1757-66

Department of Radiology, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA.

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March 2003

Hajdu-Cheney syndrome and syringomyelia. Case report.

J Neurosurg 2002 Dec;97(6):1441-6

Department of Neurotraumatology, University Hospital (Hôtel-Dieu), Nantes, France.

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http://thejns.org/doi/10.3171/jns.2002.97.6.1441
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http://dx.doi.org/10.3171/jns.2002.97.6.1441DOI Listing
December 2002

High risk of malignancy in mosaic variegated aneuploidy syndrome.

Am J Med Genet 2002 Apr;109(1):17-21; discussion 16

Unité de génétique clinique, Service de génétique médicale Hôpital mère enfant, Nantes, France.

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April 2002