J
Jean-Marie Cuisset
Researcher at Lille University of Science and Technology
Publications - 107
Citations - 4440
Jean-Marie Cuisset is an academic researcher from Lille University of Science and Technology. The author has contributed to research in topics: Duchenne muscular dystrophy & Muscular dystrophy. The author has an hindex of 29, co-authored 106 publications receiving 3897 citations. Previous affiliations of Jean-Marie Cuisset include French Institute of Health and Medical Research & Boston Children's Hospital.
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Journal ArticleDOI
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Gisèle Bonne,Eugenio Mercuri,Antoine Muchir,Andoni Urtizberea,H.M. Bécane,D. Recan,Luciano Merlini,Manfred Wehnert,Boor R,Reuner U,Matthias Vorgerd,Wicklein Em,Bruno Eymard,Denis Duboc,Isabelle Pénisson-Besnier,Jean-Marie Cuisset,Xavier Ferrer,Isabelle Desguerre,Lacombe D,Kate Bushby,C Pollitt,Daniela Toniolo,Michel Fardeau,Ketty Schwartz,Francesco Muntoni +24 more
TL;DR: A marked inter‐ and intra‐familial variability in the clinical expression of LMNA mutations exists, ranging from patients expressing the full clinical picture of EDMD to those characterized only by cardiac involvement, which points toward a significant role of possible modifier genes in the course of this disease.
Journal ArticleDOI
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
Robin G. Walters,Sébastien Jacquemont,Armand Valsesia,Armand Valsesia,Armand Valsesia,A J de Smith,Danielle Martinet,Johanna C. Andersson,Mario Falchi,Fei Chen,Joris Andrieux,Stéphane Lobbens,Bruno Delobel,Fanny Stutzmann,J. S. El-Sayed Moustafa,Jean-Claude Chèvre,C. Lecoeur,Vincent Vatin,Sonia Bouquillon,Jessica L. Buxton,Odile Boute,Muriel Holder-Espinasse,Jean-Marie Cuisset,Marie-Pierre Lemaitre,Anne-Emmanuelle Ambresin,A. Brioschi,Muriel Gaillard,Vittorio Giusti,Florence Fellmann,Alessandra Ferrarini,Nouchine Hadjikhani,Nouchine Hadjikhani,Dominique Campion,Audrey Guilmatre,Alice Goldenberg,Nadège Calmels,Jean-Louis Mandel,C Le Caignec,Albert David,Bertrand Isidor,Marie-Pierre Cordier,Sophie Dupuis-Girod,Audrey Labalme,Damien Sanlaville,M. Béri-Dexheimer,Philippe Jonveaux,B. Leheup,Katrin Õunap,Elena G. Bochukova,Elana Henning,Julia M. Keogh,Richard J. Ellis,Kay D. MacDermot,M. M. van Haelst,Catherine Vincent-Delorme,Ghislaine Plessis,R. Touraine,Anne Philippe,Valérie Malan,Michèle Mathieu-Dramard,Jean Chiesa,Bettina Blaumeiser,R. F. Kooy,Robert Caiazzo,Robert Caiazzo,Marie Pigeyre,B. Balkau,Robert Sladek,Sven Bergmann,Sven Bergmann,Vincent Mooser,Dawn M. Waterworth,Alexandre Reymond,Peter Vollenweider,Gérard Waeber,Ants Kurg,Priit Palta,Tõnu Esko,Tõnu Esko,Andres Metspalu,Andres Metspalu,Mari Nelis,Mari Nelis,Paul Elliott,A.-L. Hartikainen,Mark I. McCarthy,Mark I. McCarthy,Leena Peltonen,Leena Peltonen,Lena M. S. Carlsson,Peter Jacobson,Lars Sjöström,Ni Huang,Matthew E. Hurles,Stephen O'Rahilly,I. S. Farooqi,Katrin Männik,Marjo-Riitta Järvelin,Marjo-Riitta Järvelin,François Pattou,François Pattou,David Meyre,Andrew Walley,Lachlan J. M. Coin,Alexandra I. F. Blakemore,Philippe Froguel,Philippe Froguel,Jacques S. Beckmann,Jacques S. Beckmann +108 more
TL;DR: A highly penetrant form of obesity is reported, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits, which highlights a promising strategy for identifying missing heritability in obesity and other complex traits.
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.
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,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 Maennik,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-Brandstaetter,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,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,Renaud Touraine,Louis Vallée,Ellen van Binsbergen,Nathalie Van der Aa,Catherine Vincent-Delorme,Sophie Visvikis-Siest,Peter Vollenweider,Henry Voelzke,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 +180 more
TL;DR: The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.
Journal ArticleDOI
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.
Marie-Christine Vantyghem,Pascal Pigny,C. A. Maurage,Nathalie Rouaix-Emery,Tanya Stojkovic,Jean-Marie Cuisset,Alain Millaire,Olivier Lascols,Olivier Lascols,Patrick Vermersch,J.-L. Wémeau,Jacqueline Capeau,Corinne Vigouroux +12 more
TL;DR: It was shown that most lipodystrophic patients affected by the FPLD-linked LMNA R482W mutation show muscular and cardiac abnormalities, which should be received with care whatever the underlying LMNA mutation.