Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Marco Belfiore"'
Autor:
Diego Luigi Cortinovis, Valentina Perrone, Elisa Giacomini, Diego Sangiorgi, Margherita Andretta, Fausto Bartolini, Giuseppe Taurino, Marco Belfiore, Emilia Sicari, Luca Degli Esposti
Publikováno v:
Pharmaceuticals, Vol 16, Iss 3, p 363 (2023)
This real-world analysis aims to estimate the epidemiology and economic burden related to early-stage non-small-cell lung carcinoma (eNSCLC) in the clinical practice Italian setting. An observational analysis was performed using administrative databa
Externí odkaz:
https://doaj.org/article/06de6ba122e54384865d406622cbb88d
Autor:
Alonso, Cárdenas-de-la-Parra, Sandra, Martin-Brevet, Clara, Moreau, Borja, Rodriguez-Herreros, Vladimir, S Fonov, Anne, M Maillard, Nicole, R Zürcher, 2 European Consortium, 16p11., Nouchine Hadjikhani 48, Jacques, S Beckmann 49, Alexandre Reymond 50, Bogdan Draganski 51, Sébastien Jacquemont 52, D Louis Collins 1, Marie-Claude Addor, 7, Joris Andrieux, 8, Benoît Arveiler, 9, Geneviève Baujatm 10, Frédérique Sloan-Bénan 11, Marco, Belfiore, Dominique Bonneau 12, Sonia Bouquillon 13, Odile Boute 14, Brusco, Alfredo, Tiffany Busa 16, Jean-Hubert Caberg 17, Dominique Campion 18, Vanessa Colombert 19, Marie-Pierre Cordier 20, Albert David 21, François-Guillaume Debray 22, Marie-Ange Delrue 23, Martine Doco-Fenzy 24, Ulrike Dunkhase-Heinl 25, Patrick Edery 20, Christina Fagerberg 26, Laurence Faivre 27, Francesca, Forzano, David Genevieve 29, Marion Gérard 30, Giachino, Daniela Francesca, Agnès Guichet 32, Olivier Guillin 33, Delphine Héron 34, Bertrand Isidor 21, Aurélia Jacquette 34, Sylvie Jaillard 35, Hubert Journel 19, Boris Keren 36, Didier Lacombe, 9, Sébastien Lebon 37, Cédric Le Caignec 38, Marie-Pierre Lemaître 39, James Lespinasse 40, Michèle Mathieu-Dramart 41, Sandra Mercier 21, Cyril Mignot 34, Chantal Missirian 16, Florence Petit 42, Kristina Pilekær Sørensen 26, Lucile Pinson 29, Ghislaine Plessis 30, Fabienne Prieur 43, Caroline Rooryck-Thambo 44, Rossi, Massimiliano, Damien Sanlaville 45, Britta Schlott Kristiansen 26, Caroline Schluth-Bolard 45, Marianne Till 20, Mieke Van Haelst 46, Lionel Van Maldergem
Publikováno v:
NeuroImage
NeuroImage, Elsevier, 2019, 203, pp.116155. ⟨10.1016/j.neuroimage.2019.116155⟩
Cárdenas-de-la-Parra, A, Martin-Brevet, S, Moreau, C, Rodriguez-Herreros, B, Fonov, V S, Maillard, A M, Zürcher, N R, Marie-Claude, A, Joris, A, Benoît, A, Geneviève, B, Frédérique, S B, Marco, B, Dominique, B, Sonia, B, Odile, B, Alfredo, B, Tiffany, B, Jean-Hubert, C, Dominique, C, Vanessa, C, Marie-Pierre, C, Albert, D, François-Guillaume, D, Marie-Ange, D, Martine, D F, Dunkhase Heinl, U, Patrick, E, Fagerberg, C, Laurence, F, Francesca, F, David, G, Marion, G, Daniela, G, Agnès, G, Olivier, G, Delphine, H, Bertrand, I, Aurélia, J, Sylvie, J, Hubert, J, Boris, K, Didier, L, Sébastien, L, Cédric, L C, Marie-Pierre, L, James, L, Michèle, M D, Sandra, M, Cyril, M, Sørensen, K P, Kristiansen, B S & 16p11.2 European Consortium 2019, ' Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations ', NeuroImage, vol. 203, 116155 . https://doi.org/10.1016/j.neuroimage.2019.116155
NeuroImage, Elsevier, 2019, 203, pp.116155. ⟨10.1016/j.neuroimage.2019.116155⟩
Cárdenas-de-la-Parra, A, Martin-Brevet, S, Moreau, C, Rodriguez-Herreros, B, Fonov, V S, Maillard, A M, Zürcher, N R, Marie-Claude, A, Joris, A, Benoît, A, Geneviève, B, Frédérique, S B, Marco, B, Dominique, B, Sonia, B, Odile, B, Alfredo, B, Tiffany, B, Jean-Hubert, C, Dominique, C, Vanessa, C, Marie-Pierre, C, Albert, D, François-Guillaume, D, Marie-Ange, D, Martine, D F, Dunkhase Heinl, U, Patrick, E, Fagerberg, C, Laurence, F, Francesca, F, David, G, Marion, G, Daniela, G, Agnès, G, Olivier, G, Delphine, H, Bertrand, I, Aurélia, J, Sylvie, J, Hubert, J, Boris, K, Didier, L, Sébastien, L, Cédric, L C, Marie-Pierre, L, James, L, Michèle, M D, Sandra, M, Cyril, M, Sørensen, K P, Kristiansen, B S & 16p11.2 European Consortium 2019, ' Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations ', NeuroImage, vol. 203, 116155 . https://doi.org/10.1016/j.neuroimage.2019.116155
Most of human genome is present in two copies (maternal and paternal). However, segments of the genome can be deleted or duplicated, and many of these genomic variations (known as Copy Number Variants) are associated with psychiatric disorders. 16p11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f87712d699d3cb30d4c21f4253668c8
https://hal.archives-ouvertes.fr/hal-02441775
https://hal.archives-ouvertes.fr/hal-02441775
Autor:
Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne M. Maillard, Aurélie Pain, Sonia Richetin, Aia E. Jønch, Abid Y. Qureshi, Nicole R. Zürcher, Philippe Conus, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Ferath Kherif, Jacques S. Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L. Buckner, Bogdan Draganski, Sébastien Jacquemont, Marie-Claude Addor, Joris Andrieux, Benoît Arveiler, Geneviève Baujat, Frédérique Sloan-Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean-Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie-Pierre Cordier, Albert David, François-Guillaume Debray, Marie-Ange Delrue, Martine Doco-Fenzy, Ulrike Dunkhase-Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Genevieve, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, Marie-Pierre Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina Pilekær Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Caroline Rooryck-Thambo, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth-Bolard, Marianne Till, Mieke Van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey L. Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina Cerban, Yishin Chang, Maxwell Cheong, Vivian Chow, Zili Chu, Darina Chudnovskaya, Lauren Cornew, Corby Dale, John Dell, Allison G. Dempsey, Trent Deschamps, Rachel Earl, James Edgar, Jenna Elgin, Jennifer Endre Olson, Yolanda L. Evans, Anne Findlay, Gerald D. Fischbach, Charlie Fisk, Brieana Fregeau, Bill Gaetz, Leah Gaetz, Silvia Garza, Jennifer Gerdts, Orit Glenn, Sarah E. Gobuty, Rachel Golembski, Marion Greenup, Kory Heiken, Katherine Hines, Leighton Hinkley, Frank I. Jackson, Julian Jenkins, Rita J. Jeremy, Kelly Johnson, Stephen M. Kanne, Sudha Kessler, Sarah Y. Khan, Matthew Ku, Emily Kuschner, Anna L. Laakman, Peter Lam, Morgan W. Lasala, Hana Lee, Kevin LaGuerre, Susan Levy, Alyss Lian Cavanagh, Ashlie V. Llorens, Katherine Loftus Campe, Tracy L. Luks, Elysa J. Marco, Stephen Martin, Alastair J. Martin, Gabriela Marzano, Christina Masson, Kathleen E. McGovern, Rebecca McNally Keehn, David T. Miller, Fiona K. Miller, Timothy J. Moss, Rebecca Murray, Srikantan S. Nagarajan, Kerri P. Nowell, Julia Owen, Andrea M. Paal, Alan Packer, Patricia Z. Page, Brianna M. Paul, Alana Peters, Danica Peterson, Annapurna Poduri, Nicholas J. Pojman, Ken Porche, Monica B. Proud, Saba Qasmieh, Melissa B. Ramocki, Beau Reilly, Timothy P.L. Roberts, Dennis Shaw, Tuhin Sinha, Bethanny Smith-Packard, Anne Snow Gallagher, Vivek Swarnakar, Tony Thieu, Christina Triantafallou, Roger Vaughan, Mari Wakahiro, Arianne Wallace, Tracey Ward, Julia Wenegrat, Anne Wolken
Publikováno v:
Biological Psychiatry
Biological Psychiatry, Elsevier, 2018, 84 (4), pp.253-264. ⟨10.1016/j.biopsych.2018.02.1176⟩
16p11.2 European Consortium 2018, ' Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure : A Multisite Genetic-First Study ', Biological Psychiatry, vol. 84, no. 4, pp. 253-264 . https://doi.org/10.1016/j.biopsych.2018.02.1176
Biological Psychiatry, 2018, 84 (4), pp.253-264. ⟨10.1016/j.biopsych.2018.02.1176⟩
Simons Variation in Individuals Project (VIP) Consortium & 16p11.2 European Consortium 2018, ' Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure : A Multisite Genetic-First Study ', Biological Psychiatry, vol. 84, no. 4, pp. 253-264 . https://doi.org/10.1016/j.biopsych.2018.02.1176
Biological Psychiatry, 84(4), 253-264. Elsevier USA
Biological psychiatry, vol. 84, no. 4, pp. 253-264
Biological Psychiatry, Elsevier, 2018, 84 (4), pp.253-264. ⟨10.1016/j.biopsych.2018.02.1176⟩
16p11.2 European Consortium 2018, ' Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure : A Multisite Genetic-First Study ', Biological Psychiatry, vol. 84, no. 4, pp. 253-264 . https://doi.org/10.1016/j.biopsych.2018.02.1176
Biological Psychiatry, 2018, 84 (4), pp.253-264. ⟨10.1016/j.biopsych.2018.02.1176⟩
Simons Variation in Individuals Project (VIP) Consortium & 16p11.2 European Consortium 2018, ' Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure : A Multisite Genetic-First Study ', Biological Psychiatry, vol. 84, no. 4, pp. 253-264 . https://doi.org/10.1016/j.biopsych.2018.02.1176
Biological Psychiatry, 84(4), 253-264. Elsevier USA
Biological psychiatry, vol. 84, no. 4, pp. 253-264
BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfca8fc386da0aeafec886c42f6eb7a4
https://hdl.handle.net/21.11116/0000-0001-FF1F-F21.11116/0000-0001-6AE8-3
https://hdl.handle.net/21.11116/0000-0001-FF1F-F21.11116/0000-0001-6AE8-3
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
Publikováno v:
EMBO reports. 2:899-904
The Caenorhabditis elegans hermaphrodite sequentially produces sperm and oocytes from a single pool of precursors. Therefore, the hermaphrodite's germ line is the site of two major cell fate decisions: a germ cell precursor first undergoes a mitosis/
Autor:
Alessandra Ferrarini, Danielle Martinet, Gian Paolo Ramelli, Marco Belfiore, Mario G. Bianchetti, Sebastiano A. G. Lava, Stephanie Capobianco
Publikováno v:
Developmental medicine and child neurology. 56(3)
Autor:
Michel Gilliet, Pierre-Yves Bochud, Jacques S. Beckmann, Natalia Ramirez, Federica Angelini, Marco Belfiore, Daniel Hohl, Onur Boyman, Annette von Scheven-Gete, Yannick Perrin, Matthieu Perreau, Danielle Martinet, Gregoire Simon, Jacqueline Wassenberg, Florence Fellmann, Stéphanie Christen-Zaech, Olivier Demaria, Michael Hofer, Pierre-Alexandre Bart, Maya Beck Popovic
Publikováno v:
The Journal of allergy and clinical immunology
J Allergy Clin Immunol
Journal of Allergy and Clinical Immunology
J Allergy Clin Immunol
Journal of Allergy and Clinical Immunology
Background Data on patients affected by chronic mucocutaneous candidiasis underscore the preponderant role of IL-17 receptor A (IL-17RA) in preserving mucocutaneous immunity. Little is known about the role of adenosine deaminase (ADA) 2 in regulation
Autor:
Marco Meola, Simone Zanetti, Sonja Grinschgl, Alessandro Puoti, Pamela Bianchi, Samantha Rey, Marco Belfiore
Publikováno v:
RNA (New York, N.Y.). 18(7)
Post-transcriptional control regulates many aspects of germline development in the Caenorhabditis elegans hermaphrodite. This nematode switches from spermatogenesis to oogenesis and is, therefore, capable of self-fertilization. This sperm-oocyte swit
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e62f829b873e55fff944148463fb1d3
https://hdl.handle.net/11588/916957
https://hdl.handle.net/11588/916957
Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot
Autor:
Saleh Al-Ghamdi, Marco Belfiore, Zahurul A. Bhuiyan, Juno Liang, Jürg Schlaepffer, Abdulrahman Alswaid
Publikováno v:
International Journal of Cardiology. 172:276-277