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.
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Journal ArticleDOI
A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus.
El Habib Hani,L Suaud,Philippe Boutin,Jean-Claude Chèvre,Emmanuelle Durand,Anne Philippi,Florence Demenais,Nathalie Vionnet,Hiroto Furuta,G. Velho,Graeme I. Bell,Bernard Laine,Philippe Froguel +12 more
TL;DR: A missense mutation, resulting in a valine-to-isoleucine substitution at codon 393 in a single family is consistent with this mutation contributing to the insulin secretory defect observed in this family.
Journal ArticleDOI
CD14 and toll-like receptor gene polymorphisms, country living, and asthma in adults.
Lidwien A.M. Smit,Valérie Siroux,Emmanuelle Bouzigon,Marie-Pierre Oryszczyn,Mark Lathrop,Florence Demenais,Francine Kauffmann +6 more
TL;DR: TLR2 and CD14 SNPs were associated with asthma and atopic asthma respectively, andCD14, TLR2,TLR4, and TLR9 SNPs modified associations between country living and asthma.
Journal ArticleDOI
A variant in FTO shows association with melanoma risk not due to BMI
Mark M. Iles,Matthew Law,Simon N. Stacey,Jiali Han,Shenying Fang,Ruth M. Pfeiffer,Mark Harland,Stuart MacGregor,John C. Taylor,Katja K.H. Aben,Lars A. Akslen,Marie-Françoise Avril,Esther Azizi,Bert Bakker,Kristrun R. Benediktsdottir,Wilma Bergman,Giovanna Bianchi Scarrà,Kevin M. Brown,Donato Calista,Valérie Chaudru,Valérie Chaudru,Valérie Chaudru,Maria Concetta Fargnoli,Anne E. Cust,Florence Demenais,Anne C de Waal,Tadeusz Dȩbniak,David E. Elder,Eitan Friedman,Pilar Galan,Paola Ghiorzo,Elizabeth M. Gillanders,Alisa M. Goldstein,Nelleke A. Gruis,Johan Hansson,Per Helsing,Marko Hočevar,Veronica Höiom,John L. Hopper,Christian Ingvar,Marjolein Janssen,Mark A. Jenkins,Peter A. Kanetsky,Lambertus A. Kiemeney,Julie Lang,G. Mark Lathrop,Sancy A. Leachman,Jeffrey E. Lee,Jan Lubinski,Rona M. MacKie,Graham J. Mann,Nicholas G. Martin,Jose I. Mayordomo,Anders Molven,Suzanne Mulder,Eduardo Nagore,Srdjan Novaković,Ichiro Okamoto,Jón Ólafsson,Håkan Olsson,Hubert Pehamberger,Ketty Peris,Maria Del Pilar Royo Grasa,Dolores Planelles,Susana Puig,Susana Puig,Joan Anton Puig-Butille,Joan Anton Puig-Butille,Juliette Randerson-Moor,Celia Requena,Licia Rivoltini,Monica Rodolfo,Mario Santinami,Bardur Sigurgeirsson,Helen Snowden,Fengju Song,Fengju Song,Patrick Sulem,Kristin Thorisdottir,Rainer Tuominen,Patricia Van Belle,Nienke van der Stoep,Michelle M. van Rossum,Qingyi Wei,Judith Wendt,Diana Zelenika,Mingfeng Zhang,Maria Teresa Landi,Gudmar Thorleifsson,D. Timothy Bishop,Christopher I. Amos,Christopher I. Amos,Nicholas K. Hayward,Kari Stefansson,Kari Stefansson,Julia A. Newton Bishop,Jennifer H. Barrett +96 more
TL;DR: This is to the authors' knowledge the first study to identify and replicate an association with SNPs in FTO not related to body mass index (BMI) and these SNPs are not in intron 1 (the BMI-related region) and exhibit no association with BMI.
Journal ArticleDOI
Genome-wide association study of lung function decline in adults with and without asthma.
Medea Imboden,Medea Imboden,Emmanuelle Bouzigon,Emmanuelle Bouzigon,Emmanuelle Bouzigon,Ivan Curjuric,Ivan Curjuric,Adaikalavan Ramasamy,Ashok Kumar,Ashok Kumar,Ashok Kumar,Dana B. Hancock,Dana B. Hancock,Jemma B. Wilk,Judith M. Vonk,Gian Andri Thun,Gian Andri Thun,Valérie Siroux,Valérie Siroux,Rachel Nadif,Rachel Nadif,Florent Monier,Florent Monier,Florent Monier,Juan R. González,Matthias Wjst,Joachim Heinrich,Laura R. Loehr,Nora Franceschini,Kari E. North,Janine Altmüller,Gerard H. Koppelman,Stefano Guerra,Florian Kronenberg,Mark Lathrop,Mark Lathrop,Miriam F. Moffatt,George T. O'Connor,David P. Strachan,Dirkje S. Postma,Stephanie J. London,Christian Schindler,Christian Schindler,Manolis Kogevinas,Francine Kauffmann,Francine Kauffmann,Deborah Jarvis,Florence Demenais,Florence Demenais,Florence Demenais,Nicole Probst-Hensch,Nicole Probst-Hensch +51 more
TL;DR: The results suggest that genetic determinants of longitudinal and cross-sectional lung function differ and vary by asthma status, and genetic heterogeneity of lung function might be extensive.
Journal ArticleDOI
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
Maria Teresa Landi,D. Timothy Bishop,Stuart MacGregor,Mitchell J. Machiela,Alexander J. Stratigos,Paola Ghiorzo,Myriam Brossard,Donato Calista,Jiyeon Choi,Maria Concetta Fargnoli,Tongwu Zhang,Monica Rodolfo,Adam J. Trower,Chiara Menin,Jacobo Martinez,Andreas Hadjisavvas,Lei Song,I. Stefanaki,Richard A. Scolyer,Rose Yang,Alisa M. Goldstein,Miriam Potrony,Katerina P. Kypreou,Lorenza Pastorino,Paola Queirolo,Cristina Pellegrini,Laura Cattaneo,Matthew Zawistowski,Pol Gimenez-Xavier,Arantxa Rodriguez,Lisa Elefanti,Siranoush Manoukian,Licia Rivoltini,Blair H. Smith,Maria A. Loizidou,Laura Del Regno,Daniela Massi,Mario Mandalà,Kiarash Khosrotehrani,Kiarash Khosrotehrani,Lars A. Akslen,Lars A. Akslen,Christopher I. Amos,Per Arne Andresen,Marie-Françoise Avril,Esther Azizi,H. Peter Soyer,H. Peter Soyer,Veronique Bataille,Veronique Bataille,Bruna Dalmasso,Lisa Bowdler,Kathryn P. Burdon,Wei V. Chen,Veryan Codd,Veryan Codd,Jamie E Craig,Tadeusz Dębniak,Mario Falchi,Mario Falchi,Shenying Fang,Eitan Friedman,Sarah Simi,Pilar Galan,Zaida García-Casado,Elizabeth M. Gillanders,Scott D. Gordon,Adèle C. Green,Adèle C. Green,Nelleke A. Gruis,Johan Hansson,Mark Harland,Jessica Harris,Per Helsing,Anjali K. Henders,Marko Hočevar,Veronica Höiom,David G. Hunter,David G. Hunter,Christian Ingvar,Rajesh Kumar,Julie Lang,G. Mark Lathrop,Jeffrey E. Lee,Xin Li,Jan Lubinski,Rona M. MacKie,M. Malt,Josep Malvehy,Kerrie McAloney,Hamida Mohamdi,Anders Molven,Anders Molven,Eric K. Moses,Rachel E. Neale,Srdjan Novaković,Dale R. Nyholt,Dale R. Nyholt,Håkan Olsson,Nick Orr,Lars G. Fritsche,Joan Anton Puig-Butille,Abrar A. Qureshi,Graham L. Radford-Smith,Graham L. Radford-Smith,Graham L. Radford-Smith,Juliette Randerson-Moor,Celia Requena,Casey Rowe,Nilesh J. Samani,Nilesh J. Samani,Marianna Sanna,Marianna Sanna,Dirk Schadendorf,Hans-Joachim Schulze,Lisa A. Simms,Mark Smithers,Fengju Song,Anthony J. Swerdlow,Nienke van der Stoep,Nicole A Kukutsch,Alessia Visconti,Alessia Visconti,Leanne Wallace,Sarah V. Ward,Sarah V. Ward,Lawrie Wheeler,Richard A. Sturm,Amy Hutchinson,Amy Hutchinson,Kristine Jones,Kristine Jones,Michael Malasky,Michael Malasky,Aurelie Vogt,Aurelie Vogt,Weiyin Zhou,Weiyin Zhou,Karen A. Pooley,David E. Elder,Jiali Han,Belynda Hicks,Belynda Hicks,Nicholas K. Hayward,Peter A. Kanetsky,Chad M. Brummett,Grant W. Montgomery,Catherine M. Olsen,Caroline Hayward,Alison M. Dunning,Nicholas G. Martin,Evangelos Evangelou,Evangelos Evangelou,Graham J. Mann,Graham J. Mann,Georgina V. Long,Georgina V. Long,Paul D.P. Pharoah,Douglas F. Easton,Jennifer H. Barrett,Anne E. Cust,Gonçalo R. Abecasis,David L. Duffy,David L. Duffy,David C. Whiteman,Helen Gogas,Arcangela De Nicolo,Margaret A. Tucker,Julia Newton-Bishop,Ketty Peris,Stephen J. Chanock,Florence Demenais,Kevin M. Brown,Susana Puig,Eduardo Nagore,Jianxin Shi,Mark M. Iles,Matthew Law,Q-Mega,Qtwin Investigators,andMe,Ibd investigators,Essen-Heidelberg Investigators,Amfs Investigators +183 more
TL;DR: Analysis of risk estimates across geographical regions and host factors suggests the acral melanoma subtype is uniquely unrelated to pigmentation, and analysis combining nevus count and hair color GWAS results provide insights into the genetic architecture of melanoma.