D
Dominique Bonneau
Researcher at University of Angers
Publications - 354
Citations - 18910
Dominique Bonneau is an academic researcher from University of Angers. The author has contributed to research in topics: Gene & Mitochondrion. The author has an hindex of 64, co-authored 330 publications receiving 16800 citations. Previous affiliations of Dominique Bonneau include University Hospital of Lausanne & Centre national de la recherche scientifique.
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Journal ArticleDOI
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Laura Crisponi,Manila Deiana,Loi A,Francesca Chiappe,Manuela Uda,Patrizia Amati,Luigi Bisceglia,Leopoldo Zelante,Ramaiah Nagaraja,S. Porcu,Ristaldi Ms,R. Marzella,Mariano Rocchi,M Nicolino,Lienhardt-Roussie A,Annie Nivelon,Alain Verloes,David Schlessinger,Paolo Gasparini,Dominique Bonneau,Antonio Cao,Giuseppe Pilia +21 more
TL;DR: A novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins inType II, represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.
Journal ArticleDOI
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Tetsuya Niihori,Yoko Aoki,Yoko Narumi,Giovanni Neri,Hélène Cavé,Alain Verloes,Nobuhiko Okamoto,Raoul C.M. Hennekam,Gabriele Gillessen-Kaesbach,Dagmar Wieczorek,Maria Ines Kavamura,Kenji Kurosawa,Hirofumi Ohashi,Louise C. Wilson,Delphine Héron,Dominique Bonneau,Giuseppina Corona,Tadashi Kaname,Kenji Naritomi,Clarisse Baumann,Naomichi Matsumoto,Kumi Kato,Shigeo Kure,Yoichi Matsubara +23 more
TL;DR: Dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders of Cardio-facio-cutaneous syndrome, which phenotypically overlaps with Noonan and Costello syndrome.
Journal ArticleDOI
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Claire S. Leblond,Caroline Nava,Anne Polge,Julie Gauthier,Guillaume Huguet,Serge Lumbroso,Fabienne Giuliano,Coline Stordeur,Christel Depienne,Kevin Mouzat,Dalila Pinto,Jennifer L. Howe,Nathalie Lemière,Christelle M. Durand,Jessica Guibert,Elodie Ey,Roberto Toro,Hugo Peyre,Alexandre Mathieu,Frédérique Amsellem,Maria Råstam,I. Carina Gillberg,Gudrun A. Rappold,Richard Holt,Anthony P. Monaco,Elena Maestrini,Pilar Galan,Delphine Héron,Aurélia Jacquette,Alexandra Afenjar,Agnès Rastetter,Alexis Brice,Françoise Devillard,Brigitte Assouline,Fanny Laffargue,James Lespinasse,Jean Chiesa,François Rivier,Dominique Bonneau,Béatrice Regnault,Diana Zelenika,Marc Delepine,Mark Lathrop,Damien Sanlaville,Caroline Schluth-Bolard,Patrick Edery,Laurence Perrin,Anne Claude Tabet,Michael J. Schmeisser,Tobias M. Boeckers,Mary Coleman,Daisuke Sato,Peter Szatmari,Stephen W. Scherer,Guy A. Rouleau,Catalina Betancur,Marion Leboyer,Christopher Gillberg,Richard Delorme,Thomas Bourgeron +59 more
TL;DR: Mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment and the clinical relevance of these genes remains to be ascertained.
Journal ArticleDOI
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
Patrizia Amati-Bonneau,Maria Lucia Valentino,Pascal Reynier,María Esther Gallardo,Belén Bornstein,Anne Boissiere,Yolanda Campos,Henry Rivera,Jesús González de la Aleja,Rosanna Carroccia,Luisa Iommarini,Pierre Labauge,Dominique Figarella-Branger,Pascale Marcorelles,Alain Furby,Katell Beauvais,Franck Letournel,Rocco Liguori,Chiara La Morgia,Pasquale Montagna,Maria Liguori,Claudia Zanna,Michela Rugolo,Andrea Cossarizza,Bernd Wissinger,Christophe Verny,Robert Schwarzenbacher,Miguel A. Martín,Joaquiotan Arenas,Carmen Ayuso,Rafael Garesse,Guy Lenaers,Dominique Bonneau,Valerio Carelli +33 more
TL;DR: In this paper, mutations in the OPA1 gene can also be responsible for a syndromic form of DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive external ophthalmoplegia and mitochondrial myopathy.
Journal ArticleDOI
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sébastien Jacquemont,Alexandre Reymond,Flore Zufferey,Louise Harewood,Robin G. Walters,Zoltán Kutalik,Danielle Martinet,Yiping Shen,Armand Valsesia,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 Järvelin,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,Benoit 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 J. M. Coin,Charles Coutton,Jean-Marie Cuisset,Jean-Christophe Cuvellier,Albert David,Bénédicte de Fréminville,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 I. Fisher,Elisabeth Flori,Lukas Forer,Dominique Gaillard,Marion Gérard,Christian Gieger,Stefania Gimelli,Giorgio Gimelli,Hans J. Grabe,Agnès Guichet,Olivier Guillin,Anna-Liisa Hartikainen,Delphine Héron,Loyse Hippolyte,Muriel Holder,Georg Homuth,Bertrand Isidor,Sylvie Jaillard,Zdenek Jaros,Susana Jiménez-Murcia,Geraldine 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 M E Lewis,Josette Lucas,Kay D. MacDermot,Páll Magnússon,Christian R. Marshall,Michèle Mathieu-Dramard,Mark I. McCarthy,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,André Reis,Alessandra Renieri,Cristóbal 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 Tengstrom,Unnur Thorsteinsdottir,Francisco J. Tinahones,R. 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 +182 more
TL;DR: In this article, the reciprocal duplication is associated with being clinically underweight, which is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anorexia nervosa.