Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Patrick Callier"'
Autor:
Aziza Lebbar, Sandra Chantot-Bastaraud, Catherine Yardin, Ghislaine Plessis, Patrick Edery, Damien Sanlaville, Laurence Faivre, Aline Receveur, Anne Claude Tabet, Solveig Heide, Laila El Khattabi, Patrick Callier, Christine Francannet, Alice Goldenberg, Eva Pipiras, Michèle Mathieu-Dramard, Chantal Missirian, Odile Boute-Benejean, Cécile Laroche, C. Francois-Fiquet, Pascal Garnier, Alice Masurel-Paulet, Nathalie Marle, Marion Gérard, Jean Michel Dupont, Alexandra Afenjar, Martine Doco Fenzy, Anne Moncla, Marie Pierre Cordier, Brigitte Benzacken, Jean-Hubert Caberg, Gaetan Lesca, Loïc de Pontual, Christine Ioos, Massimiliano Rossi, Nathalie Le Meur, Andrée Delahaye-Duriez, Joris Andrieux, Caroline Vincent-Delorme, Siham Chafai Elalaoui, Lesley Suiro, Philippe Vago, Anne-Laure Mosca-Boidron, Abdelhafid Natiq
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
BackgroundThe clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were
Autor:
Christiane Zweier, Jamal Ghoumid, Cornelia Kraus, Sophie Nambot, Laurence Faivre, Antonio Vitobello, Stéphanie Moortgat, Thierry Bienvenu, Christel Thauvin-Robinet, Virginie Carmignac, Benjamin Cogné, Frédéric Tran Mau-Them, Julien Thevenon, Patrick Callier, Alain Verloes, Christophe Philippe, Sophie Naudion, Renaud Touraine, André Reis, Arthur Sorlin, Caroline Thuillier, Bruno Delobel, Thibaud Jouan, Francis Ramond, Cécile Zordan, Daphné Lehalle, Valérie Benoit, Yannis Duffourd, Mathilde Nizon, Emilie Tisserant, Thomas Smol
Publikováno v:
Clinical geneticsREFERENCES. 98(1)
X-linked intellectual disability (XLID) is a genetically heterogeneous condition involving more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine specific demethylase 5C (KDM5C) gene. KDM5C variants are one of the major
Autor:
Brigitte Gilbert-Dussardier, Patrick Edery, Flavie Diguet, Géraldine Joly-Hélas, Fanny Morice-Picard, Nicolas Chatron, Jeanne Amiel, Fabienne Prieur, Jérome Toutain, Sandra Whalen, Marine Lebrun, Gwenaël Nadeau, Sylvie Jaillard, Céline Pebrel-Richard, Annabelle Chaussenot, Bénédicte Demeer, Florence Demurger, Sophie Dupuis-Girod, Marianne Till, Nicole Philip, Jacques Puechberty, Laurent Pasquier, Pierre-Antoine Rollat-Farnier, Claire Bardel, Anne-Marie Guerrot, Anne-Claude Tabet, Sylvie Odent, Annick Toutain, Alain Verloes, Jean-Michel Dupont, Christine Coubes, Aziza Lebbar, Yline Capri, Bertrand Isidor, James Lespinasse, Didier Lacombe, Julie Masson, Sophie Blesson, Marine Houlier, Véronique Paquis-Flucklinger, Michèle Mathieu-Dramard, Florence Amblard, Patrick Callier, Jonathan Levy, Chantal Missirian, Véronique Satre, Marie-France Portnoï, Cyril Mignot, Stéphanie Valence, Catherine Sarret, Sébastien Moutton, Françoise Devillard, Alice Masurel-Paulet, Caroline Schluth-Bolard, Patrick Collignon, Jean-Pierre Siffroi, Marie-Pierre Cordier, Renaud Touraine, Marlène Rio, Céline Dupont, Cédric Le Caignec, Damien Sanlaville, Audrey Putoux, Morgane Plutino, Valérie Kremer, Valérie Malan, Martine Doco-Fenzy, Alexandra Afenjar, Caroline Rooryck-Thambo, Massimiliano Rossi, Linda Pons, Gaetan Lesca, Laurence Faivre
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bfa0d97e8cc1623bbc8d64f06561370
https://hal.archives-ouvertes.fr/hal-02097116
https://hal.archives-ouvertes.fr/hal-02097116
Autor:
Marguerite, Miguet, Laurence, Faivre, Jeanne, Amiel, Mathilde, Nizon, Renaud, Touraine, Fabienne, Prieur, Laurent, Pasquier, Mathilde, Lefebvre, Julien, Thevenon, Christèle, Dubourg, Sophie, Julia, Catherine, Sarret, Ganaëlle, Remerand, Christine, Francannet, Fanny, Laffargue, Odile, Boespflug-Tanguy, Albert, David, Bertrand, Isidor, Jacqueline, Vigneron, Bruno, Leheup, Laetitia, Lambert, Christophe, Philippe, Mylène, Béri-Dexheimer, Jean-Marie, Cuisset, Joris, Andrieux, Ghislaine, Plessis, Annick, Toutain, Laurent, Guibaud, Valérie, Cormier-Daire, Marlene, Rio, Jean-Paul, Bonnefont, Bernard, Echenne, Hubert, Journel, Lydie, Burglen, Sandrine, Chantot-Bastaraud, Thierry, Bienvenu, Clarisse, Baumann, Laurence, Perrin, Séverine, Drunat, Pierre-Simon, Jouk, Klaus, Dieterich, Françoise, Devillard, Didier, Lacombe, Nicole, Philip, Sabine, Sigaudy, Anne, Moncla, Chantal, Missirian, Catherine, Badens, Nathalie, Perreton, Christel, Thauvin-Robinet, Réseau, AChro-Puce, Jean-Michel, Pedespan, Caroline, Rooryck, Cyril, Goizet, Catherine, Vincent-Delorme, Bénédicte, Duban-Bedu, Nadia, Bahi-Buisson, Alexandra, Afenjar, Kim, Maincent, Delphine, Héron, Jean-Luc, Alessandri, Dominique, Martin-Coignard, Gaëtan, Lesca, Massimiliano, Rossi, Martine, Raynaud, Patrick, Callier, Anne-Laure, Mosca-Boidron, Nathalie, Marle, Charles, Coutton, Véronique, Satre, Cédric Le, Caignec, Valérie, Malan, Serge, Romana, Boris, Keren, Anne-Claude, Tabet, Valérie, Kremer, Sophie, Scheidecker, Adeline, Vigouroux, Marilyn, Lackmy-Port-Lis, Damien, Sanlaville, Marianne, Till, Maryline, Carneiro, Brigitte, Gilbert-Dussardier, Marjolaine, Willems, Hilde, Van Esch, Vincent Des, Portes, Salima, El Chehadeh
Publikováno v:
Journal of medical genetics. 55(6)
The Xq28 duplication involving the
Autor:
Laurent Pasquier, Anne V. Snow, David T. Miller, Louise Harewood, Christina Triantafallou, Timothy P.L. Roberts, Leighton B. Hinkley, Zili Chu, Louis Vallée, Alyss Lian Cavanagh, Evica Rajcan-Separovic, Patricia Blanchet, Fiona Miller, Robin P. Goin-Kochel, Beau Reilly, Bettina Cerban, Vanessa Siffredi, Bridget A. Fernandez, Roger Vaughan, Brianna M. Paul, Fanny Morice-Picard, Elisabeth Flori, Dominique Campion, Gérard Didelot, Anne Philippe, Christa Lese Martin, Srikantan S. Nagarajan, Joris Andrieux, Jacques Puechberty, Marie Pierre Cordier, Jill V. Hunter, Ellen van Binsbergen, Catherine Vincent-Delorme, Vivek Swarnakar, Jean Marie Cuisset, Monica Proud, Patrick Callier, Bert B.A. de Vries, Jeffrey I. Berman, Sarah J. Spence, Alexandra Bowe, Wendy K. Chung, Katy Ankenman, Katherine Hines, Sarah E. Gobuty, Philippe Jonveaux, Lisa Blaskey, Alice Goldenberg, Sylvie Jaillard, Alessandra Renieri, Anne M. Maillard, Tracy Luks, Lee Anne Green Snyder, Elliott H. Sherr, Sarah Y. Khan, Fabienne Prieur, Simon A. Zwolinski, Andres Metspalu, Ghislaine Plessis, Jean Chiesa, Rita J. Jeremy, Valérie Malan, Michèle Mathieu-Dramard, Loyse Hippolyte, Bethanny Smith-Packard, Andrea M. Paal, Bénédicte Duban Bedu, Claudine Rieubland, Jordan Burko, Sylvie Joriot, Philippe Conus, Dominique Bonneau, Benoit Arveiler, Nicole de Leeuw, Allison G. Dempsey, John E. Spiro, Julia Wenegrat, Bertrand Isidor, Cédric Le Caignec, Kyle J. Steinman, Bruno Delobel, Ashlie Llorens, Jacques S. Beckmann, Kelly Johnson, Sean Ackerman, Polina Bukshpun, Silvia Garza, Alexandre Reymond, Damien Sanlaville, Ellen Hanson, Martine Doco-Fenzy, Jacques Thonney, Mari Wakahiro, Juliane Hoyer, Jacqueline Vigneron, Katrin Õunap, Arthur L. Beaudet, Mandy Barker, Nicole Visyak, Sonia Bouquillon, W. Andrew Faucett, Raphael Bernier, Sudha Kilaru Kessler, Audrey Lynn Bibb, Dennis Shaw, R. Frank Kooy, Suzanne M E Lewis, Anna L. Laakman, Nicholas J. Pojman, Hubert Journel, Laura Bernardini, Arianne Stevens, Julia P. Owen, Rebecca Mc Nally Keehn, Stéphanie Selmoni, Sébastien Lebon, Aurélien Macé, Bruno Leheup, Saba Qasmieh, Zoltán Kutalik, Anita Rauch, Yiping Shen, Elysa J. Marco, Nathalie Van der Aa, Carina Ferrari, Noam D. Beckmann, Delphine Héron, Jennifer Tjernage, Benjamin Aaronson, Albert David, Marie Pierre Lemaitre, Muriel Holder, Eve Õiglane-Shlik, Anneke T. Vulto-van Silfhout, Flore Zufferey, Constance Atwell, Marta Benedetti, Ellen Grant, Jenna Elgin, Patricia Z. Page, Caroline Rooryck, Randy L. Buckner, Qixuan Chen, Laurence Faivre, Sébastien Jacquemont, Kerri P. Nowell, Florence Fellmann, Disciglio Vittoria, Katharina Magdalena Rötzer, Hana Lee, Alastair J. Martin, Marion Greenup, David H. Ledbetter, Katrin Männik, Morgan W. Lasala, Jennifer Gerdts, Hanalore Alupay, Florence Petit, Elizabeth Aylward, Gerald D. Fischbach, Mafalda Mucciolo, Maxwell Cheong, Gabriela Marzano, Frédérique Béna, Danielle Martinet, Timothy J. Moss, Odile Boute, Jennifer Olson, Marco Belfiore, Christina Fagerberg, Corby L. Dale, Robert M. Witwicki, Yolanda L. Evans, Melissa B. Ramocki, Marie-Claude Addor, Christèle Dubourg, Mariken Ruiter, Tuhin K. Sinha, Mieke M. van Haelst, Alan Packer, Kathleen E. McGovern, Christie M. Brewton, Stephen M. Kanne, Richard I. Fisher, Tracey Ward, Sophie Dupuis-Girod, Pratik Mukherjee
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective To define the medical, neuropsychological, and beha
Autor:
Vincent des Portes, Salima El Chehadeh, Odile Boespflug-Tanguy, Nathalie Marle, Charles Coutton, Didier Lacombe, Patrick Callier, Anne Moncla, Mathilde Nizon, Christine Francannet, Marlène Rio, Valérie Cormier-Daire, Jean-Paul Bonnefont, Pierre-Simon Jouk, Anne-Laure Mosca-Boidron, Christophe Philippe, Alice Goldenberg, Hubert Journel, Mathilde Lefebvre, Bertrand Isidor, Bernard Echenne, Séverine Drunat, Françoise Devillard, Sébastien Lebon, Jeanne Amiel, Nicole Philip, Jean-Marie Cuisset, Nathalie Perreton, Marie-Claude Addor, Fabienne Prieur, Christel Thauvin-Robinet, Laurent Pasquier, Sophie Julia, Christèle Dubourg, Danièle Martinet, Laurent Guibaud, Laetitia Lambert, Jeanne Andrieux, Cédric Le Caignec, Catherine Badens, Catherine Sarret, Alice Masurel, Julien Thevenon, Renaud Touraine, Ghislaine Plessis, Fanny Laffargue, Lydie Burglen, Laurence Perrin, Bruno Leheup, Thierry Bienvenu, Valérie Malan, Alexandra Afenjar, Albert David, Clarisse Baumann, Marie-Ange Delrue, Jacqueline Vigneron, Annick Toutain, Laurence Faivre
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. 〈10.1002/ajmg.a.37384〉
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. 〈10.1002/ajmg.a.37384〉
International audience; Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pul
Autor:
Hélène Poquet, Iben Bache, Bruno Vergès, Patrick Callier, Maria Luigia Cavaliere, Stanislas Lyonnet, Jean Paul Girod, Alice Masurel-Paulet, Valérie Malan, Anne Laure Mosca-Boidron, Nathalie Marle, Laurence Faivre, Antonio Novelli, Björn Menten, Julien Thevenon, Bart Loeys, Christel Thauvin-Robinet, Salima El Chehadeh, Frédéric Huet, Zeynep Tümer, Jean-Michel Petit, Jean Michel Pinoit, Francine Mugneret
Publikováno v:
Journal of medical genetics
Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletio
Autor:
Anne H. Child, Christophe Béroud, Catherine Boileau, Jaime Sanchez del Pozo, Julie De Backer, Cyril Goizet, Jeanne Amiel, Lesley C. Adès, Pierre Vabres, Anne De Paepe, Julien Thevenon, Laurence Duplomb, Katherine Holman, Christel Thauvin-Robinet, Clarisse Baumann, Frédéric Huet, Ghislaine Plessis, Gwenaëlle Collod-Béroud, Bert Callewaert, Eloisa Arbustini, Henri Plauchu, Bernard Aral, Peter N. Robinson, Sophie Julia, Jean Baptiste Rivière, Valérie Cormier-Daire, Gavin Arno, Nadège Gigot, Marjolijn Renard, Lucie Gueneau, Guillaume Jondeau, Patrick Callier, Jean Benoît Courcet, Maja Di Rocco, Laurence Faivre, Virginie Carmignac, Estelle Lopez, Maurizia Grasso
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. 〈10.1016/j.ajhg.2012.10.002〉
American Journal of Human Genetics, 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. 〈10.1016/j.ajhg.2012.10.002〉
American Journal of Human Genetics, 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
International audience; Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4240c41e9ce258a7c24b5f040116e571
https://hal.archives-ouvertes.fr/hal-01670135/document
https://hal.archives-ouvertes.fr/hal-01670135/document
Autor:
Stephen W. Scherer, Mònica Gratacòs, Kari Stefansson, Muriel Holder, Unnur Thorsteinsdottir, Lukas Forer, Katharina M. Roetzer, Josette Lucas, Claudia Schurmann, Satu Kaksonen, Armand Valsesia, Carina Wallgren-Pettersson, Barbara Leube, Alexandra I. F. Blakemore, Alexandre Moerman, Marco Belfiore, Anne Faudet, Dominique Gaillard, Roberto Ravazzolo, Dominique Bonneau, Marjo-Riitta Järvelin, Yongguo Yu, Louis Vallée, Bénédicte Demeer, Sophie Visvikis-Siest, Frédérique Béna, Brigitte H. W. Faas, Benoit Arveiler, Georg Homuth, Charles Coutton, Bénédicte de Fréminville, Giorgio Gimelli, Xavier Estivill, Richard I. Fisher, Stefania Gimelli, Wendy Roberts, Jacques S. Beckmann, Emilie Landais, Orah S. Platt, Robin G. Walters, Gudmar Thorleifsson, Alexandre Reymond, Anna-Liisa Hartikainen, Solenn Legallic, James F. Gusella, Peter Vollenweider, Gian Paolo Ramelli, Tõnu Esko, Boris Keren, Nine V A M Knoers, Fanny Morice-Picard, Dominique Campion, Odile Boute, Evica Rajcan-Separovic, Rolph Pfundt, Nathalie Bednarek, Martine Doco-Fenzy, Suzanne M E Lewis, Gérard Didelot, Mylène Beri, Engilbert Sigurdsson, Véronique Satre, Audrey Labalme, Carola Tengstrom, Florian Kronenberg, Florence Petit, Simon Zwolinksi, Philippe Froguel, Paul Elliott, Dorothée Cailley, Christian R. Marshall, Bruno Leheup, Klaus Dieterich, Janina S. Ried, Sylvie Jaillard, Armand Bottani, Stylianos E. Antonarakis, Elisabetta Lapi, Jean-Christophe Cuvellier, Robert M. Witwicki, Gérard Waeber, Christèle Dubourg, Marion Gérard, Lachlan J. M. Coin, Magalie Barth, Anita Kloss-Brandstätter, Vincent Mooser, Cristóbal Richart, Giuseppe Merla, Bénédicte Duban-Bedu, Yiping Shen, Ants Kurg, Audrey Guilmatre, Juliane Hoyer, Susana Jiménez-Murcia, Mafalda Mucciolo, Bai-Lin Wu, Alessandra Ferrarini, Séverine Drunat, Yves Alembik, Páll Magnússon, Han G. Brunner, Maria Antonietta Mencarelli, Dominique Descamps, R. Frank Kooy, Azzedine Aboura, Valérie Layet, Sven Bergmann, Thomas Meitinger, Peter M. Kroisel, Nathalie Van der Aa, Olivier Guillin, Michèle Mathieu-Dramard, Zoltán Kutalik, Elisabeth Flori, Laurent Pasquier, André Reis, Noam D. Beckmann, Bertrand Isidor, Delphine Héron, Philippe Jonveaux, Sergi Villatoro Gomez, Ann Nordgren, José Manuel Fernández-Real, Florence Fellmann, Fernando Fernández-Aranda, Laurence Faivre, Dimitri J. Stavropoulos, Katrin Männik, Christian Gieger, Evald Saemundsen, Agnès Guichet, Jean-Marie Cuisset, R. Touraine, Laura Bernardini, Marie-Ange Delrue, Alessandra Renieri, Omar Gustafsson, Flore Zufferey, David A. Koolen, Massimiliano Rossi, Jacqueline Chrast, Ghislaine Plessis, Faida Walha, Joris Andrieux, Ellen van Binsbergen, Albert David, Catherine Vincent-Delorme, Cédric Le Caignec, Jean Chiesa, Ndeye Coumba Ndiaye, Geraldine Joly Helas, Damien Sanlaville, Anita Rauch, Louise Harewood, Mark I. McCarthy, Bridget A. Fernandez, Sébastien Jacquemont, Hreinn Stefansson, Anneke T. Vulto-van Silfhout, Zdenek Jaros, Matthias Nauck, Hans J. Grabe, Sonia Bouquillon, Mieke M. van Haelst, Andres Metspalu, Loyse Hippolyte, Patrick Callier, Bert B.A. de Vries, Francisco J. Tinahones, Nicole de Leeuw, Julia S. El-Sayed Moustafa, Claudine Rieubland, Kay D. MacDermot, Vittoria Disciglio, Henry Völzke, Caroline Rooryck, Bettina Blaumeiser, Danielle Martinet, Marie-Claude Addor, Bruno Delobel
Publikováno v:
Nature, 478, 97-U111. Nature Publishing Group
Nature, 478, 7367, pp. 97-102
Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, R G, Kutalik, Z, Martinet, D, Shen, Y, Valsesia, A, Beckmann, N D, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, B B A, Esko, T, Fernandez, B A, Fernández-Aranda, F, Fernández-Real, J M, Gratacòs, M, Guilmatre, A, Hoyer, J, Jarvelin, M-R, Kooy, R F, Kurg, A, Le Caignec, C, Männik, K, Platt, O S, Sanlaville, D, Van Haelst, M M, Villatoro Gomez, S, Walha, F, Wu, B-L, Yu, Y, Aboura, A, Addor, M-C, Alembik, Y, Antonarakis, S E, Arveiler, B, Barth, M, Bednarek, N, Béna, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, H G, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, J-M, Cuvellier, J-C, David, A, de Freminville, B, Delobel, B, Delrue, M-A, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S, Duban-Bedu, B, Dubourg, C, El-Sayed Moustafa, J S, Elliott, P, Faas, B H W, Faivre, L, Faudet, A, Fellmann, F, Ferrarini, A, Fisher, R, Flori, E, Forer, L, Gaillard, D, Gerard, M, Gieger, C, Gimelli, S, Gimelli, G, Grabe, H J, Guichet, A, Guillin, O, Hartikainen, A-L, Heron, D, Hippolyte, L, Holder, M, Homuth, G, Isidor, B, Jaillard, S, Jaros, Z, Jiménez-Murcia, S, Helas, G J, Jonveaux, P, Kaksonen, S, Keren, B, Kloss-Brandstätter, A, Knoers, N V A M, Koolen, D A, Kroisel, P M, Kronenberg, F, Labalme, A, Landais, E, Lapi, E, Layet, V, Legallic, S, Leheup, B, Leube, B, Lewis, S, Lucas, J, MacDermot, K D, Magnusson, P, Marshall, C, Mathieu-Dramard, M, McCarthy, M I, Meitinger, T, Mencarelli, M A, Merla, G, Moerman, A, Mooser, V, Morice-Picard, F, Mucciolo, M, Nauck, M, Ndiaye, N C, Nordgren, A, Pasquier, L, Petit, F, Pfundt, R, Plessis, G, Rajcan-Separovic, E, Ramelli, G P, Rauch, A, Ravazzolo, R, Reis, A, Renieri, A, Richart, C, Ried, J S, Rieubland, C, Roberts, W, Roetzer, K M, Rooryck, C, Rossi, M, Saemundsen, E, Satre, V, Schurmann, C, Sigurdsson, E, Stavropoulos, D J, Stefansson, H, Tengström, C, Thorsteinsdóttir, U, Tinahones, F J, Touraine, R, Vallée, L, van Binsbergen, E, Van der Aa, N, Vincent-Delorme, C, Visvikis-Siest, S, Vollenweider, P, Völzke, H, Vulto-van Silfhout, A T, Waeber, G, Wallgren-Pettersson, C, Witwicki, R M, Zwolinksi, S, Andrieux, J, Estivill, X, Gusella, J F, Gustafsson, O, Metspalu, A, Scherer, S W, Stefansson, K, Blakemore, A I F, Beckmann, J S & Froguel, P 2011, ' Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus ', Nature, vol. 478, no. 7367, pp. 97-102 . https://doi.org/10.1038/nature10406
Nature
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Nature, Nature Publishing Group, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Nature, 478(7367), 97-102. Nature Publishing Group
Nature; Vol 478
Nature, 478(7367), 97-U111. Nature Publishing Group
Nature, Vol. 478, No 7367 (2011) pp. 97-102
Nature, vol. 478, no. 7367, pp. 97-102
Nature, 478, 97-102
Nature, 478, 7367, pp. 97-102
Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, R G, Kutalik, Z, Martinet, D, Shen, Y, Valsesia, A, Beckmann, N D, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, B B A, Esko, T, Fernandez, B A, Fernández-Aranda, F, Fernández-Real, J M, Gratacòs, M, Guilmatre, A, Hoyer, J, Jarvelin, M-R, Kooy, R F, Kurg, A, Le Caignec, C, Männik, K, Platt, O S, Sanlaville, D, Van Haelst, M M, Villatoro Gomez, S, Walha, F, Wu, B-L, Yu, Y, Aboura, A, Addor, M-C, Alembik, Y, Antonarakis, S E, Arveiler, B, Barth, M, Bednarek, N, Béna, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, H G, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, J-M, Cuvellier, J-C, David, A, de Freminville, B, Delobel, B, Delrue, M-A, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S, Duban-Bedu, B, Dubourg, C, El-Sayed Moustafa, J S, Elliott, P, Faas, B H W, Faivre, L, Faudet, A, Fellmann, F, Ferrarini, A, Fisher, R, Flori, E, Forer, L, Gaillard, D, Gerard, M, Gieger, C, Gimelli, S, Gimelli, G, Grabe, H J, Guichet, A, Guillin, O, Hartikainen, A-L, Heron, D, Hippolyte, L, Holder, M, Homuth, G, Isidor, B, Jaillard, S, Jaros, Z, Jiménez-Murcia, S, Helas, G J, Jonveaux, P, Kaksonen, S, Keren, B, Kloss-Brandstätter, A, Knoers, N V A M, Koolen, D A, Kroisel, P M, Kronenberg, F, Labalme, A, Landais, E, Lapi, E, Layet, V, Legallic, S, Leheup, B, Leube, B, Lewis, S, Lucas, J, MacDermot, K D, Magnusson, P, Marshall, C, Mathieu-Dramard, M, McCarthy, M I, Meitinger, T, Mencarelli, M A, Merla, G, Moerman, A, Mooser, V, Morice-Picard, F, Mucciolo, M, Nauck, M, Ndiaye, N C, Nordgren, A, Pasquier, L, Petit, F, Pfundt, R, Plessis, G, Rajcan-Separovic, E, Ramelli, G P, Rauch, A, Ravazzolo, R, Reis, A, Renieri, A, Richart, C, Ried, J S, Rieubland, C, Roberts, W, Roetzer, K M, Rooryck, C, Rossi, M, Saemundsen, E, Satre, V, Schurmann, C, Sigurdsson, E, Stavropoulos, D J, Stefansson, H, Tengström, C, Thorsteinsdóttir, U, Tinahones, F J, Touraine, R, Vallée, L, van Binsbergen, E, Van der Aa, N, Vincent-Delorme, C, Visvikis-Siest, S, Vollenweider, P, Völzke, H, Vulto-van Silfhout, A T, Waeber, G, Wallgren-Pettersson, C, Witwicki, R M, Zwolinksi, S, Andrieux, J, Estivill, X, Gusella, J F, Gustafsson, O, Metspalu, A, Scherer, S W, Stefansson, K, Blakemore, A I F, Beckmann, J S & Froguel, P 2011, ' Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus ', Nature, vol. 478, no. 7367, pp. 97-102 . https://doi.org/10.1038/nature10406
Nature
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Nature, Nature Publishing Group, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Nature, 478(7367), 97-102. Nature Publishing Group
Nature; Vol 478
Nature, 478(7367), 97-U111. Nature Publishing Group
Nature, Vol. 478, No 7367 (2011) pp. 97-102
Nature, vol. 478, no. 7367, pp. 97-102
Nature, 478, 97-102
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5
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https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e62f829b873e55fff944148463fb1d3
https://hdl.handle.net/11588/916957
https://hdl.handle.net/11588/916957