Marc Delepine

Marc Delepine

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Marc Delepine

Marc Delepine

Publications by authors named "Marc Delepine"

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Variations of SOST mRNA expression in human bone are associated with DNA polymorphism and DNA methylation in the SOST gene.

Bone 2016 11 9;92:107-115. Epub 2016 Aug 9.

INSERM U1132 BIOSCAR, Hôpital Lariboisière, 75010 Paris, France; University Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2016.08.004DOI Listing
November 2016

Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.

J Clin Endocrinol Metab 2016 07 4;101(7):2892-904. Epub 2016 May 4.

From Sorbonne Universités, UPMC Univ Paris 6, and Inserm UMR_S938, Centre de Recherche St-Antoine, F-75012, Paris, France (L.S.-T., M.A., M.N., O.L., J.C., C.V.); Institute of Cardiometabolism and Nutrition (L.S.-T., M.A., O.L., J.C., C.V.), Groupe Hospitalier La Pitié-Salpêtrière, F-75013 Paris, France; Service d'Histologie et de Biologie Cellulaire (F.T.), Faculté de Médecine-Université de Limoges; AP-HP, Hôpital Tenon, Service de Biochimie et Hormonologie (J.C.), F-75020, Paris, France; Medical Genetics Center, Cairo, Egypt (S.M.E., E.E.); McGill University and Génome Québec Innovation Centre, Montréal, Canada (M.L.); Commissariat à l'Energie Atomique/Institut de Génomique/Centre National de Génotypage (M.D.), Evry, France; AP-HP, Hôpital St-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, F-75012, Paris, France (O.L., C.V.); and Inserm UMR_S1087, L'Institut du Thorax (J.M.), F-44007 Nantes, France.

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http://dx.doi.org/10.1210/jc.2016-1086DOI Listing
July 2016

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

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http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

Eur J Hum Genet 2014 Mar 12;22(3):363-8. Epub 2013 Jun 12.

1] Inserm, U910, Faculté de Médecine de La Timone, Marseille, France [2] Aix Marseille Université, Faculté de Médecine, Marseille, France.

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http://dx.doi.org/10.1038/ejhg.2013.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925263PMC
March 2014

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.

J Alzheimers Dis 2010 ;22(1):247-55

Unité INSERM 744, Institut Pasteur de Lille BP 245,1, rue du professeur Calmette, F59019Lille cedex, France.

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http://dx.doi.org/10.3233/JAD-2010-100933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964875PMC
August 2011

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

Authors:
Paul Hollingworth Denise Harold Rebecca Sims Amy Gerrish Jean-Charles Lambert Minerva M Carrasquillo Richard Abraham Marian L Hamshere Jaspreet Singh Pahwa Valentina Moskvina Kimberley Dowzell Nicola Jones Alexandra Stretton Charlene Thomas Alex Richards Dobril Ivanov Caroline Widdowson Jade Chapman Simon Lovestone John Powell Petroula Proitsi Michelle K Lupton Carol Brayne David C Rubinsztein Michael Gill Brian Lawlor Aoibhinn Lynch Kristelle S Brown Peter A Passmore David Craig Bernadette McGuinness Stephen Todd Clive Holmes David Mann A David Smith Helen Beaumont Donald Warden Gordon Wilcock Seth Love Patrick G Kehoe Nigel M Hooper Emma R L C Vardy John Hardy Simon Mead Nick C Fox Martin Rossor John Collinge Wolfgang Maier Frank Jessen Eckart Rüther Britta Schürmann Reiner Heun Heike Kölsch Hendrik van den Bussche Isabella Heuser Johannes Kornhuber Jens Wiltfang Martin Dichgans Lutz Frölich Harald Hampel John Gallacher Michael Hüll Dan Rujescu Ina Giegling Alison M Goate John S K Kauwe Carlos Cruchaga Petra Nowotny John C Morris Kevin Mayo Kristel Sleegers Karolien Bettens Sebastiaan Engelborghs Peter P De Deyn Christine Van Broeckhoven Gill Livingston Nicholas J Bass Hugh Gurling Andrew McQuillin Rhian Gwilliam Panagiotis Deloukas Ammar Al-Chalabi Christopher E Shaw Magda Tsolaki Andrew B Singleton Rita Guerreiro Thomas W Mühleisen Markus M Nöthen Susanne Moebus Karl-Heinz Jöckel Norman Klopp H-Erich Wichmann V Shane Pankratz Sigrid B Sando Jan O Aasly Maria Barcikowska Zbigniew K Wszolek Dennis W Dickson Neill R Graff-Radford Ronald C Petersen Cornelia M van Duijn Monique M B Breteler M Arfan Ikram Anita L DeStefano Annette L Fitzpatrick Oscar Lopez Lenore J Launer Sudha Seshadri Claudine Berr Dominique Campion Jacques Epelbaum Jean-François Dartigues Christophe Tzourio Annick Alpérovitch Mark Lathrop Thomas M Feulner Patricia Friedrich Caterina Riehle Michael Krawczak Stefan Schreiber Manuel Mayhaus S Nicolhaus Stefan Wagenpfeil Stacy Steinberg Hreinn Stefansson Kari Stefansson Jon Snaedal Sigurbjörn Björnsson Palmi V Jonsson Vincent Chouraki Benjamin Genier-Boley Mikko Hiltunen Hilkka Soininen Onofre Combarros Diana Zelenika Marc Delepine Maria J Bullido Florence Pasquier Ignacio Mateo Ana Frank-Garcia Elisa Porcellini Olivier Hanon Eliecer Coto Victoria Alvarez Paolo Bosco Gabriele Siciliano Michelangelo Mancuso Francesco Panza Vincenzo Solfrizzi Benedetta Nacmias Sandro Sorbi Paola Bossù Paola Piccardi Beatrice Arosio Giorgio Annoni Davide Seripa Alberto Pilotto Elio Scarpini Daniela Galimberti Alexis Brice Didier Hannequin Federico Licastro Lesley Jones Peter A Holmans Thorlakur Jonsson Matthias Riemenschneider Kevin Morgan Steven G Younkin Michael J Owen Michael O'Donovan Philippe Amouyel Julie Williams

Nat Genet 2011 May 3;43(5):429-35. Epub 2011 Apr 3.

Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Neurosciences and Mental Health Research Institute, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1038/ng.803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084173PMC
May 2011

A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.

Authors:
James D McKay Therese Truong Valerie Gaborieau Amelie Chabrier Shu-Chun Chuang Graham Byrnes David Zaridze Oxana Shangina Neonila Szeszenia-Dabrowska Jolanta Lissowska Peter Rudnai Eleonora Fabianova Alexandru Bucur Vladimir Bencko Ivana Holcatova Vladimir Janout Lenka Foretova Pagona Lagiou Dimitrios Trichopoulos Simone Benhamou Christine Bouchardy Wolfgang Ahrens Franco Merletti Lorenzo Richiardi Renato Talamini Luigi Barzan Kristina Kjaerheim Gary J Macfarlane Tatiana V Macfarlane Lorenzo Simonato Cristina Canova Antonio Agudo Xavier Castellsagué Ray Lowry David I Conway Patricia A McKinney Claire M Healy Mary E Toner Ariana Znaor Maria Paula Curado Sergio Koifman Ana Menezes Victor Wünsch-Filho José Eluf Neto Leticia Fernández Garrote Stefania Boccia Gabriella Cadoni Dario Arzani Andrew F Olshan Mark C Weissler William K Funkhouser Jingchun Luo Jan Lubiński Joanna Trubicka Marcin Lener Dorota Oszutowska Stephen M Schwartz Chu Chen Sherianne Fish David R Doody Joshua E Muscat Philip Lazarus Carla J Gallagher Shen-Chih Chang Zuo-Feng Zhang Qingyi Wei Erich M Sturgis Li-E Wang Silvia Franceschi Rolando Herrero Karl T Kelsey Michael D McClean Carmen J Marsit Heather H Nelson Marjorie Romkes Shama Buch Tomoko Nukui Shilong Zhong Martin Lacko Johannes J Manni Wilbert H M Peters Rayjean J Hung John McLaughlin Lars Vatten Inger Njølstad Gary E Goodman John K Field Triantafillos Liloglou Paolo Vineis Francoise Clavel-Chapelon Domenico Palli Rosario Tumino Vittorio Krogh Salvatore Panico Carlos A González J Ramón Quirós Carmen Martínez Carmen Navarro Eva Ardanaz Nerea Larrañaga Kay-Tee Khaw Timothy Key H Bas Bueno-de-Mesquita Petra H M Peeters Antonia Trichopoulou Jakob Linseisen Heiner Boeing Göran Hallmans Kim Overvad Anne Tjønneland Merethe Kumle Elio Riboli Kristjan Välk Tõnu Vooder Tõnu Voodern Andres Metspalu Diana Zelenika Anne Boland Marc Delepine Mario Foglio Doris Lechner Hélène Blanché Ivo G Gut Pilar Galan Simon Heath Mia Hashibe Richard B Hayes Paolo Boffetta Mark Lathrop Paul Brennan

PLoS Genet 2011 Mar 17;7(3):e1001333. Epub 2011 Mar 17.

International Agency for Research on Cancer (IARC), Lyon, France.

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http://pure.au.dk/ws/files/36381633/A_Genome_Wide_Associatio
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http://dx.plos.org/10.1371/journal.pgen.1001333
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.1001333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060072PMC
March 2011

WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.

Hum Mol Genet 2008 Dec 20;17(24):4012-21. Epub 2008 Sep 20.

Lebanese American University, School of Medicine, Chouran, Beirut 1102 2801, Lebanon.

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http://dx.doi.org/10.1093/hmg/ddn304DOI Listing
December 2008

Fibrinogen and coronary heart disease: test of causality by 'Mendelian randomization'.

Int J Epidemiol 2006 Aug 26;35(4):935-43. Epub 2006 Jul 26.

Institute of Human Genetics, University of Newcastle-upon-Tyne, UK.

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http://dx.doi.org/10.1093/ije/dyl114DOI Listing
August 2006

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.

Diabetes 2002 Apr;51(4):1291-3

Medical Genetics Unit, Department of Child Health, St. George's Hospital Medical School, London, UK.

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http://dx.doi.org/10.2337/diabetes.51.4.1291DOI Listing
April 2002