Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Joris Andrieux"'
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:
Joris Andrieux, Anna Sowińska-Seidler, Joo Wook Ahn, Elena Pollina, Clarisse Baumann, Chantal Farra, Florence Petit, Sébastien Jacquemont, Muriel Holder-Espinasse, Philippe Jonveaux, Jane A. Hurst, Sylvie Manouvrier-Hanu, Magdalena Socha, Neeti Ghali, Sahar Mansour, Albert David, Anne-Sylvie Valat, Michèle Mathieu-Dramard, Anne Moncla, Annick Toutain, Alain Verloes, Anna Jakubiuk-Tomaszuk, Nayana Lahiri, Estelle Colin, Annick Rossi, David Zhang, Philippe Bourgeot, Aleksander Jamsheer, Fabienne Escande, Marion Gérard, Aurélie Mezel, Valérie Cormier-Daire, Ghislaine Plessis, Christine Patch
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (4), pp.525-534. ⟨10.1038/s41431-018-0326-9⟩
European Journal of Human Genetics, 2019, 27 (4), pp.525-534. ⟨10.1038/s41431-018-0326-9⟩
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (4), pp.525-534. ⟨10.1038/s41431-018-0326-9⟩
European Journal of Human Genetics, 2019, 27 (4), pp.525-534. ⟨10.1038/s41431-018-0326-9⟩
International audience; Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malfor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2440ebeb8a9e0302172e76e6d36750af
https://hal-normandie-univ.archives-ouvertes.fr/hal-02268426
https://hal-normandie-univ.archives-ouvertes.fr/hal-02268426
Autor:
Sophie Scheidecker, Françoise Devillard, Gaetan Lesca, Maryline Carneiro, Christèle Dubourg, Ganaëlle Remerand, Catherine Badens, Odile Boespflug-Tanguy, Nathalie Marle, Serge Romana, Nadia Bahi-Buisson, Jean-Paul Bonnefont, Hubert Journel, Bénédicte Duban-Bedu, Brigitte Gilbert-Dussardier, Mathilde Nizon, Nathalie Perreton, Sophie Julia, Cyril Goizet, Delphine Héron, Véronique Satre, Marguerite Miguet, Joris Andrieux, Pierre-Simon Jouk, Laurence Perrin, Renaud Touraine, Ghislaine Plessis, Dominique Martin-Coignard, Caroline Rooryck, Catherine Vincent-Delorme, Laurence Faivre, Salima El Chehadeh, Thierry Bienvenu, Jean-Luc Alessandri, Anne-Claude Tabet, Laurent Pasquier, Martine Raynaud, Réseau AChro-Puce, Marjolaine Willems, Bruno Leheup, Marianne Till, Jeanne Amiel, Jacqueline Vigneron, Nicole Philip, Valérie Kremer, Massimiliano Rossi, Boris Keren, Annick Toutain, Fabienne Prieur, Bertrand Isidor, Séverine Drunat, Marilyn Lackmy-Port-Lis, Albert David, Christel Thauvin-Robinet, Damien Sanlaville, Laetitia Lambert, Lydie Burglen, Klaus Dieterich, Catherine Sarret, Anne Moncla, Didier Lacombe, Fanny Laffargue, Kim Maincent, Marlène Rio, Clarisse Baumann, Mathilde Lefebvre, Sabine Sigaudy, Laurent Guibaud, Adeline Vigouroux, Valérie Malan, Patrick Callier, Chantal Missirian, Christophe Philippe, Christine Francannet, Anne-Laure Mosca-Boidron, Valérie Cormier-Daire, Cédric Le Caignec, Vincent des Portes, Charles Coutton, Alexandra Afenjar, Sandrine Chantot-Bastaraud, Julien Thevenon, Mylène Béri-Dexheimer, Hilde Van Esch, Bernard Echenne, Jean-Marie Cuisset, Jean-Michel Pedespan
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
The Xq28 duplication involving theMECP2gene (MECP2duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08bb3809b5e7ee7287c9062f8ef529f3
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02064139
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02064139
Autor:
Ahmed Fatmi, Pierre L. Roubertoux, Joris Andrieux, Catherine Vincent-Delorme, Michèle Carlier, Paolo Gubellini, Laurence Had-Aissouni, Fatimetou Abderrehamane, Bénédicte Duban, Agne Liedén, Detlef Bockenhauer, Emeric Dubois, Mehdi Metwaly, Adrian S. Woolf, Nenad Sestan, Dany Severac, Jean Marie Cuisset, Laurent Fasano, Jean François Lemaitre, Marwan Shinawi, Marie Pierre Lemaitre, Lydia Kerkerian-Le Goff, Eva Rudd, Xavier Caubit, Pascal Salin, Bernard Jacq, Alistair N. Garratt, Kenneth Y. Kwan, Ying Zhu
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (11), pp.1359-1369. ⟨10.1038/ng.3681⟩
Nature Genetics, 2016, 48 (11), pp.1359-1369. ⟨10.1038/ng.3681⟩
Nature genetics
Caubit, X, Gubellini, P, Andrieux, J, Roubertoux, P L, Metwaly, M, Jacq, B, Fatmi, A, Had-Aissouni, L, Kwan, K Y, Salin, P, Carlier, M, Liedén, A, Rudd, E, Shinawi, M, Vincent-Delorme, C, Cuisset, J-M, Lemaitre, M-P, Fatimetou, A, Duban, B, Lemaitre, J-F, Woolf, A S, Bockenhauer, D, Severac, D, Dubois, E, Zhu, Y, Sestan, N, Garratt, A N, Kerkerian-Le Goff, L & Fasano, L 2016, ' TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons ', Nature Genetics, vol. 48, pp. 1359-1369 . https://doi.org/10.1038/ng.3681
Nature Genetics, Nature Publishing Group, 2016, 48 (11), pp.1359-1369. ⟨10.1038/ng.3681⟩
Nature Genetics, 2016, 48 (11), pp.1359-1369. ⟨10.1038/ng.3681⟩
Nature genetics
Caubit, X, Gubellini, P, Andrieux, J, Roubertoux, P L, Metwaly, M, Jacq, B, Fatmi, A, Had-Aissouni, L, Kwan, K Y, Salin, P, Carlier, M, Liedén, A, Rudd, E, Shinawi, M, Vincent-Delorme, C, Cuisset, J-M, Lemaitre, M-P, Fatimetou, A, Duban, B, Lemaitre, J-F, Woolf, A S, Bockenhauer, D, Severac, D, Dubois, E, Zhu, Y, Sestan, N, Garratt, A N, Kerkerian-Le Goff, L & Fasano, L 2016, ' TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons ', Nature Genetics, vol. 48, pp. 1359-1369 . https://doi.org/10.1038/ng.3681
International audience; TSHZ3, which encodes a zinc-finger transcription factor, was recently positioned as a hub gene in a module of the genes with the highest expression in the developing human neocortex, but its functions remained unknown. Here we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1526d52f0caf1ad65c8793faee92cf7
https://hal.archives-ouvertes.fr/hal-01432295
https://hal.archives-ouvertes.fr/hal-01432295
Autor:
Laurence Faivre, Marie-Ange Delrue, Nathalie Marle, Fanny Morice-Picard, Pierre-Simon Jouk, Delphine Héron, Alice Goldenberg, Stéphanie Perez-Martin, Julien Thevenon, Frédéric Huet, Véronique Dulieu, Alice Masurel, Patricia Calenda, Patrick Callier, Salima El Chehadeh, Sylvie Manouvrier-Hanu, Sophie Dupuis-Girod, Pascale Saugier-Veber, Gipsy Billy-Lopez, Joris Andrieux, Paul Kuentz, Ghislaine Plessis, Christel Thauvin-Robinet, Géraldine Joly-Helas, Sophie Nambot, Mathilde Lefebvre, Charles Coutton, Anne-Laure Mosca-Boidron, Caroline Rooryck
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.830-837. 〈http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015202a.html〉. 〈10.1038/ejhg.2015.202〉
European Journal of Human Genetics, 2016, 24 (6), pp.830-837. ⟨10.1038/ejhg.2015.202⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.830-837. ⟨10.1038/ejhg.2015.202⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.830-837. 〈http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015202a.html〉. 〈10.1038/ejhg.2015.202〉
European Journal of Human Genetics, 2016, 24 (6), pp.830-837. ⟨10.1038/ejhg.2015.202⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.830-837. ⟨10.1038/ejhg.2015.202⟩
International audience; The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0d986fc00fc32ceebf0cf57c345a809
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01400905
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01400905
Autor:
Marie-Christine Vantyghem, Delphine Fauvert, Bénédicte Duban, Florence Petit, Frenny Sheth, Roseline Caumes, Louis Vallée, Valérie Malan, Guillaume Jedraszak, Jean-Marie Cuisset, Odile Boute, Patricia Blanchet, Valérie Cormier-Daire, Matthieu Decamp, Marie Pigeyre, Marion Gérard, Joelle Roume, Sandrine Lanco-Dosen, Nathalie Lemeur, Pierre Sarda, Muriel Holder-Espinasse, Jacques Puechberty, Frédéric Bilan, Gilles Morin, Lucie Pinson, David Geneviève, Ghislaine Plessis, Bruno Delobel, Marie-Pierre Lemaitre, Sylvie Manouvrier-Hanu, Clémence Vanlerberghe, Brigitte Gilbert-Dussardier, Sonia Bouquillon, Joris Andrieux, Catherine Vincent-Delorme, Michèle Mathieu
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2015, 58 (3), pp.140-147. ⟨10.1016/j.ejmg.2015.01.002⟩
European Journal of Medical Genetics, Elsevier, 2015, 58 (3), pp.140-147. ⟨10.1016/j.ejmg.2015.01.002⟩
International audience; Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion between BP1 and BP2 has been previously associated with developmental delay and at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a952d3038c9029b5eaad8c504547e62
https://hal.umontpellier.fr/hal-02135606
https://hal.umontpellier.fr/hal-02135606
Autor:
Claire de Barace, Jeanne Amiel, Annick Toutain, Alain Verloes, Christèle Dubourg, Laila El Khattabi, Sylvie Jaillard, Laurent Pasquier, Eva Pipiras, Louise Devisme, JM Pinard, Florence Demurger, Dominique P. Germain, Pascale Marcorelles, Marie-Christine de Blois, Valérie Malan, Yline Capri, Loïc de Pontual, Joris Andrieux, Josette Lucas, Catherine Vincent-Delorme, Azzedine Aboura, Marc-Antoine Belaud-Rotureau, Abdelmadjid Benmansour, Laurence Perrin, Nathalie Le Dû, Catherine Henry, Aziza Lebbar, Hubert Journel, Anne-Claude Tabet
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1252--1261. 〈10.1002/ajmg.a.36932〉
American Journal of Medical Genetics Part A, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1252--1261. 〈10.1002/ajmg.a.36932〉
International audience; Tetrasomy 9p is a generic term describing the presence of a supernumerary chromosome incorporating two copies of the 9p arm. Two varieties exist: isodicentric chromosome 9p (i(9p)), where the two 9p arms are linked by a single
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe14a45c11963c362741330e8eadf120
https://univ-rennes.hal.science/hal-01165441
https://univ-rennes.hal.science/hal-01165441
Autor:
Christelle Dubourg, Joris Andrieux, Stanislas Lyonnet, Pietro Palumbo, Chantal Missirian, Alice Masurel, Brigitte Benzacken, Alain Verloes, Nathalie Marle, Anne Lise Delezoide, Clarisse Baumann, Aimé Ravel, Valérie Malan, Anne Claude Tabet, Laila El Khattabi, Muriel Holder-Espinasse, Serge Romana, Mylène Valduga, Laurence Faivre, Anne Moncla, Hélène Dessuant, Sylvie Jaillard, Jean Michel Dupont, Sonia Bouquillon, Alexandre Moerman, Séverine Drunat, Fabien Guimiot, Hubert Journel, Bruno Delobel, Massimo Carella, Sylvie Odent, Florence Demurger, Céline Dupont, Eva Pipiras, Andrée Delahaye, Marie Vermelle, Orazio Palumbo
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2014, 23, pp.1010-1018. 〈10.1038/ejhg.2014.230〉
European Journal of Human Genetics, 2015, 23 (8), pp.1010-1018. ⟨10.1038/ejhg.2014.230⟩
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (8), pp.1010-1018. ⟨10.1038/ejhg.2014.230⟩
European Journal of Human Genetics, Nature Publishing Group, 2014, 23, pp.1010-1018. 〈10.1038/ejhg.2014.230〉
European Journal of Human Genetics, 2015, 23 (8), pp.1010-1018. ⟨10.1038/ejhg.2014.230⟩
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (8), pp.1010-1018. ⟨10.1038/ejhg.2014.230⟩
International audience; 6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b7dd2000162f5934bb4a47d30c3f18
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01116591
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01116591
Autor:
Michel Robert, Sylvie Jaillard, Christèle Dubourg, Serge Guyétant, Sophie Taque, Christine Edan, Caroline Abadie, Joris Andrieux, Nathalie Rioux-Leclercq, Sylvie Odent, Alice Fiévet, Frédéric Dugay, Marc-Antoine Belaud-Rotureau, Catherine Henry
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2013, 56 (12), pp.643-7. ⟨10.1016/j.ejmg.2013.10.004⟩
European Journal of Medical Genetics, 2013, 56 (12), pp.643-7. ⟨10.1016/j.ejmg.2013.10.004⟩
European Journal of Medical Genetics, Elsevier, 2013, 56 (12), pp.643-7. ⟨10.1016/j.ejmg.2013.10.004⟩
European Journal of Medical Genetics, 2013, 56 (12), pp.643-7. ⟨10.1016/j.ejmg.2013.10.004⟩
International audience; This report concerns a 3-year-old girl with prenatal bilateral nephroblastomatosis and a family history of nephroblastoma. This girl had a chromosome 8 pericentric inversion inherited from her father. This inversion was observ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72c26a00581563039c4838aff64c4cbf
https://hal-univ-rennes1.archives-ouvertes.fr/hal-00933759
https://hal-univ-rennes1.archives-ouvertes.fr/hal-00933759
Autor:
Bruno Leheup, Manon Girard, Caroline Rooryck, Elodie Sanchez, David Geneviève, Anouck Schneider, Marie-Ange Delrue, Azzedine Aboura, Magali Tournaire, Laurence Perrin-Sabourin, Emilie Landais, Michel Goossens, Florence Petit, Pierre Sarda, Camille Leroy, Dominique Gaillard, Philippe Jonveaux, Dorothée Cailley, Jacques Puechberty, Joris Andrieux, Laurence Taine, Agnès Ameil, Martine Doco-Fenzy, Geneviève Lefort
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2013, 22 (4), pp.471-479. ⟨10.1038/ejhg.2013.189⟩
European Journal of Human Genetics, Nature Publishing Group, 2013, 22 (4), pp.471-479. ⟨10.1038/ejhg.2013.189⟩
International audience; Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and has been reported in about 13 patients in the literature often ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9d9879c209fd468b28e2ad885caaee8
https://hal.univ-lorraine.fr/hal-01688659
https://hal.univ-lorraine.fr/hal-01688659