Extended spectrum of MBD5 mutations in neurodevelopmental disorders

Autor: Emmanuel Bresso, Bruno Leheup, Sarah Lejczak, Charlène Vigouroux, Joris Andrieux, Irina Giurgea, Asma A. Khan, Anne Moncla, Philippe Jonveaux, Marie-Dominique Devignes, Mylène Beri, Bénédicte Deemer, Céline Bonnet, Christophe Philippe

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2013, 21 (12), pp.1457-1461. ⟨10.1038/ejhg.2013.22⟩
European Journal of Human Genetics, 2013, 21 (12), pp.1457-1461. ⟨10.1038/ejhg.2013.22⟩

International audience; Intellectual disability (ID) is a clinical sign reflecting diverse neurodevelopmental disorders that are genetically and phenotypically heterogeneous. Just recently, partial or complete deletion of methyl-CpG-binding domain 5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb123902011d5ebc2283e6650a581a69
https://doi.org/10.1038/ejhg.2013.22

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

Autor: Martine Doco-Fenzy, Sylvie Jaillard, Odile Boute, Christèle Dubourg, Patrick Edery, Bénédicte Duban-Bedu, Véronique David, Joris Andrieux, Catherine Vincent-Delorme, Isabelle Mortemousque, Albert David, Anne Moncla, Mylène Beri, Dominique Martin-Coignard, Caroline Schluth-Bolard, Nicole Philip, Annick Toutain, Séverine Drunat, Emilie Landais, Sylvie Odent, Chantal Missirian, Cédric Le Caignec, Damien Sanlaville, Jean Mosser

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, 2011, 54 (2), pp.144-51. ⟨10.1016/j.ejmg.2010.11.003⟩
European Journal of Medical Genetics, Elsevier, 2011, 54 (2), pp.144-51. ⟨10.1016/j.ejmg.2010.11.003⟩

International audience; Chromosome 17q21.31 microdeletion was one of the first genomic disorders identified by chromosome microarrays. We report here the clinical and molecular characterization of a new series of 14 French patients with this microdel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e73e4b8bc8c61c35f4121fc7287abb8d
https://doi.org/10.1016/j.ejmg.2010.11.003

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis

Autor: Isabelle Gicquel, Leslie Ratié, Christèle Dubourg, Annie Laquerrière, Claude Bendavid, Mylène Beri, Véronique David, Sylvie Jaillard, Valérie Dupé, Sandra Mercier, Philippe Loget, C. Evain, Chloé Quélin, Sylvie Odent, Laurent Pasquier, James Lespinasse, Pascale Marcorelles, Bruno Leheup, Dominique Martin-Coignard, Florence Demurger

Publikováno v: Molecular Syndromology
Molecular Syndromology, 2013, 4 (6), pp.267--272. ⟨10.1159/000353878⟩
Molecular Syndromology, Karger, 2013, 4 (6), pp.267--272. ⟨10.1159/000353878⟩

Rhombencephalosynapsis is an uncommon, but increasingly recognized, cerebellar malformation defined as vermian agenesis with fusion of the hemispheres. The embryologic and genetic mechanisms involved are still unknown, and to date, no animal models a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c1230089346f6aab5918496efb2ffbc
https://hal.science/hal-01064054

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

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

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

Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: an eight-year follow-up

Autor: Nicolas Daguindau, Mylène Beri, Christophe Ferrand, Véronique Decot, Véronique Latger-Cannard, Danièle Bensoussan, Rosine Nzietchueng, Capucine Picard, Alexandra Salmon, Pierre Bordigoni, Marie José Gregoire, Jean-François Stoltz

Publikováno v: Clinical Immunology
Clinical Immunology, 2008, 128 (2), pp.164-71. ⟨10.1016/j.clim.2008.03.524⟩
Clinical Immunology, Elsevier, 2008, 128 (2), pp.164-71. ⟨10.1016/j.clim.2008.03.524⟩

International audience; A young boy with a confirmed complete DiGeorge Syndrome (cDGS) underwent a peripheral blood mononuclear cell transplantation (PBMCT) from his HLA-identical sister at 4.5 years of age, without a conditioning regimen. Eight year

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8267dd77107a1d719946119342e61b7
https://www.hal.inserm.fr/inserm-00484207