F
Florence Demenais
Researcher at French Institute of Health and Medical Research
Publications - 228
Citations - 14269
Florence Demenais is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 58, co-authored 225 publications receiving 13069 citations. Previous affiliations of Florence Demenais include Institut Gustave Roussy & Foundation Center.
Papers
More filters
Journal ArticleDOI
A large-scale, consortium-based genomewide association study of asthma.
Miriam F. Moffatt,Ivo Gut,Florence Demenais,David P. Strachan,Emmanuelle Bouzigon,Simon Heath,Erika von Mutius,Martin Farrall,Mark Lathrop,William O.C.M. Cookson +9 more
TL;DR: A few common alleles are associated with disease risk at all ages and suggest a role for communication of epithelial damage to the adaptive immune system and activation of airway inflammation in asthma.
Journal ArticleDOI
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
Corine Bertolotto,Fabienne Lesueur,Sandy Giuliano,Thomas Strub,Mahaut de Lichy,Karine Bille,Philippe Dessen,Benoit d’Hayer,Hamida Mohamdi,Audrey Remenieras,Eve Maubec,Arnaud de la Fouchardière,Vincent Molinié,Pierre Vabres,Stéphane Dalle,N. Poulalhon,Tanguy Martin-Denavit,Luc Thomas,Pascale Andry-Benzaquen,Nicolas Dupin,F. Boitier,Annick Rossi,Jean-Luc Perrot,Bruno Labeille,Caroline Robert,Bernard Escudier,Olivier Caron,Laurence Brugières,Simon Saule,Betty Gardie,Sophie Gad,Stéphane Richard,Jérôme Couturier,Bin Tean Teh,Paola Ghiorzo,Lorenza Pastorino,Susana Puig,Celia Badenas,Håkan Olsson,Christian Ingvar,Etienne Rouleau,Rosette Lidereau,Philippe Bahadoran,Philippe Vielh,Eve Corda,Hélène Blanché,Diana Zelenika,Pilar Galan,François Aubin,Bertrand Bachollet,Celine Becuwe,Pascaline Berthet,Yves-Jean Bignon,Valérie Bonadona,Jean -Louis Bonafe,Marie -Noelle Bonnet-Dupeyron,Frédéric Cambazard,Jacqueline Chevrant-Breton,Isabelle Coupier,Sophie Dalac,Liliane Demange,Michel D'Incan,Catherine Dugast,Laurence Faivre,Lynda Vincent-Fetita,Marion Gauthier-Villars,Brigitte Gilbert,Florent Grange,Jean-Jacques Grob,Philippe Humbert,Nicolas Janin,Pascal Joly,Delphine Kerob,Christine Lasset,Dominique Leroux,Julien Levang,Jean -Marc Limacher,Cristina Bulai Livideanu,Michel Longy,Alain Lortholary,Dominique Stoppa-Lyonnet,Sandrine Mansard,Ludovic Mansuy,Karine Marrou,Christine Mateus,Christine Maugard,Nicolas Meyer,Catherine Noguès,Pierre Souteyrand,Laurence Venat-Bouvet,Hélène Zattara,Valérie Chaudru,Gilbert M. Lenoir,Mark Lathrop,Irwin Davidson,Marie-Françoise Avril,Florence Demenais,Robert Ballotti,Brigitte Bressac-de Paillerets +98 more
TL;DR: A germline missense substitution in MITF (Mi-E318K) is identified that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls and provides insights into the link between SUMOylation, transcription and cancer.
Journal ArticleDOI
Geographical Variation in the Penetrance of CDKN2A Mutations for Melanoma
D. Timothy Bishop,Florence Demenais,Alisa M. Goldstein,Wilma Bergman,Julia A. Newton Bishop,Brigitte Bressac-de Paillerets,Agnès Chompret,Paola Ghiorzo,Nelleke A. Gruis,Johan Hansson,Mark Harland,Nicholas K. Hayward,Elizabeth A. Holland,Graham J. Mann,Michela Mantelli,Derek J. Nancarrow,Anton Platz,Margaret A. Tucker +17 more
TL;DR: This study indicates that the penetrance of CDKN2A mutation penetrance varies with melanoma population incidence rates, and suggests that the same factors that affect population incidence of melanoma may also mediate CD KN2A penetrance.
Journal ArticleDOI
Genome-wide association study identifies three loci associated with melanoma risk.
D. Timothy Bishop,Florence Demenais,Mark M. Iles,Mark Harland,John C. Taylor,Eve Corda,Eve Corda,Juliette Randerson-Moor,Joanne F. Aitken,Marie-Françoise Avril,Esther Azizi,Bert Bakker,Giovanna Bianchi-Scarrà,Brigitte Bressac-de Paillerets,Donato Calista,Lisa A. Cannon-Albright,Thomas Chin-A-Woeng,Tadeusz Dębniak,Gilli Galore-Haskel,Paola Ghiorzo,Ivo Gut,Johan Hansson,Marko Hočevar,Veronica Höiom,John L. Hopper,Christian Ingvar,Peter A. Kanetsky,Richard F. Kefford,Maria Teresa Landi,Julie Lang,Jan Lubinski,Rona M. MacKie,Josep Malvehy,Graham J. Mann,Nicholas G. Martin,Grant W. Montgomery,Frans A. van Nieuwpoort,Srdjan Novaković,Håkan Olsson,Susana Puig,Marjan M. Weiss,Wilbert van Workum,Diana Zelenika,Kevin M. Brown,Alisa M. Goldstein,Elizabeth M. Gillanders,Anne Boland,Pilar Galan,David E. Elder,Nelleke A. Gruis,Nicholas K. Hayward,G. Mark Lathrop,G. Mark Lathrop,Jennifer H. Barrett,Julia A. Newton Bishop +54 more
TL;DR: Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.
Journal ArticleDOI
Effect of 17q21 variants and smoking exposure in early-onset asthma.
Emmanuelle Bouzigon,Eve Corda,Hugues Aschard,Marie-Hélène Dizier,Anne Boland,Jean Bousquet,Nicolas Chateigner,Frédéric Gormand,Jocelyne Just,Nicole Le Moual,Pierre Scheinmann,Valérie Siroux,Daniel Vervloet,Diana Zelenika,Isabelle Pin,Francine Kauffmann,G. Mark Lathrop,Florence Demenais +17 more
TL;DR: This study shows that the increased risk of asthma conferred by 17q21 genetic variants is restricted to early-onset asthma and that the risk is further increased by early-life exposure to environmental tobacco smoke.