Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Frédéric Huet"'
Autor:
Christel Thauvin-Robinet, Véronique Darmency, Jean-Baptiste Rivière, Arthur Sorlin, Pierre Vabres, Marc Bardou, Frédéric Huet, Nawale Hadouiri, Alexis Arzimanoglou, Laurent Guibaud, Maxime Luu, Laurence Faivre, Virginie Carmignac
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.104036-. ⟨10.1016/j.ejmg.2020.104036⟩
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.104036-. ⟨10.1016/j.ejmg.2020.104036⟩
The MTOR gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. Postzygotic MTOR variants result in various mosaic phenotypes, referred to in OMIM as Smith-Kinsgmore syndrome or foca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4db522a15f95c413f148bb45a12ba2a
https://hal.science/hal-03491487
https://hal.science/hal-03491487
Autor:
Jean Donadieu, Delphine Héron, Laurence Faivre, Salima El Chehadeh, Daphné Lehalle, Claire Briandet, Elodie Gautier, Julien Thevenon, Daniel Amram, Thibaud Jouan, Jean-Baptiste Rivière, Judith Melki, Laurence Duplomb-Jego, Frédéric Huet, Christine Bellanné-Chantelot, Christel Thauvin-Robinet, Ange-Line Bruel, Yannis Duffourd, Lucile Pinson, Isabelle Maystadt, Judith St-Onge, Sophia Julia, Alexandra Gauthier-Vasserot, Paul Kuentz
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
International audience; Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after
Autor:
Sebastien Moutton, Aurore Garde, Laurence Faivre, François Feillet, Christel Thauvin-Robinet, Paul Kuentz, Antonio Vitobello, Frédéric Huet, Arthur Sorlin, Roberto Colombo, Nada Houcinat, Yannis Duffourd, Caroline Racine, Julian Delanne, Christophe Philippe, Daphné Lehalle, Michael J. O'Grady, Julien Thevenon, Frédéric Tran Mau-Them, Bénédicte Héron, Sandrine Marlin, Sophie Nambot
Publikováno v:
American journal of medical genetics. Part A. 179(9)
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomali
Autor:
Alice Masurel, Yannis Duffourd, Bénédicte Gérard, Christiane Zweier, Thomas Arnesen, Bernt Popp, Melissa P. Wasserstein, Cyril Mignot, Nicholas AhMew, Laetitia Lampert, Boris Keren, Jean Baptiste Rivière, Caroline Nava, Laurence Faivre, Chloé Saunier, Marjon van Slegtenhorst, Paul Kuentz, Christel Thauvin-Robinet, Marina Blenski, Svein Isungset Støve, Paula Goldenberg, Amélie Piton, André Reis, Julien Thevenon, Frédéric Huet, Ange Line Bruel, Grazia M.S. Mancini, Kamer Tezcan, Charlotte de Bie, Bruno Leheup, Bertrand Isidor
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2016, 〈10.1002/humu.23001〉
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, Wiley, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, 37(8), 755-764. Wiley-Liss Inc.
Human Mutation, Wiley, 2016, 〈10.1002/humu.23001〉
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, Wiley, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, 37(8), 755-764. Wiley-Liss Inc.
International audience; N-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N-terminal acetylation complex NatA h
Autor:
Ludmila Francescatto, Catherine Guettier-Bouttier, Jean-Baptiste Rivière, Evelyne Marinier, Olivier Goulet, Philippe Gauchez, Alexandre Fabre, Yves Rimet, Jean-Pierre Hugot, Aurélie Bourchany, Laurence Faivre, Catherine Badens, Arnauld Delarue, Emmanuel Gonzales, Frédéric Huet, Raphaelle Maudinas, Arnaud Blanchard, Nicholas Katsanis, Céline Brochier-Armanet, Christel Thauvin-Robinet, Sabine Sigaudy, Julien Thevenon, Caroline Lacoste, Karin Mazodier, Ange-Line Bruel, Emmanuelle Ecochard-Dugelay, Nicolas Lévy, Cécile de Leusse, Mina Komuta, Géraldine Hery, Yannis Duffourd, Jacques Sarles, Bertrand Roquelaure, Xavier Stéphenne, Patrice Bourgeois, Perciliz L. Tan, Clothilde Esteve
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
The American Journal of Human Genetics
The American Journal of Human Genetics, 2018, 102 (3), pp.364-374. 〈10.1016/j.ajhg.2018.01.009〉
American Journal of Human Genetics, Vol. 102, no. 3, p. 364-374 (2018)
American Journal of Human Genetics, 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
The American Journal of Human Genetics
The American Journal of Human Genetics, 2018, 102 (3), pp.364-374. 〈10.1016/j.ajhg.2018.01.009〉
American Journal of Human Genetics, Vol. 102, no. 3, p. 364-374 (2018)
International audience; Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with chole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63311494302c5d98ba5326b43b7b6501
https://amu.hal.science/hal-01721495
https://amu.hal.science/hal-01721495
Autor:
Michel Francoise, Patrick Callier, Steven A. Vokes, Susanne Kjaergaard, Laurence Duplomb, Thomas Lee Dahm, Julien Thevenon, Nicole Monnier, Marie Hélène Aubriot-Lorton, Frédéric Huet, Tara Montgomery, Haley O. Tucker, Clémence Ragon, Nathalie Marle, Katherine Neas, Francine Mugneret, Pierre-Simon Jouk, Joël Lunardi, Klaus Dieterich, Laurence Faivre, Christel Thauvin-Robinet, Anne Laure Mosca-Boidron, Joanne Dixon
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2014, pp.3027-34. 〈10.1002/ajmg.a.36751〉
American Journal of Medical Genetics Part A, Wiley, 2014, pp.3027-34. ⟨10.1002/ajmg.a.36751⟩
American Journal of Medical Genetics Part A, Wiley, 2014, pp.3027-34. 〈10.1002/ajmg.a.36751〉
American Journal of Medical Genetics Part A, Wiley, 2014, pp.3027-34. ⟨10.1002/ajmg.a.36751⟩
International audience; Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20–25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of
Autor:
Delphine Minot, Sophie Chancenotte, Paul Kuentz, Yvan Henrenger, Mélanie Archimbaud-Devilliers, Christel Thauvin-Robinet, Audrey Creppy, Aurore Curie, Ezzat Ghosn, Alice Masurel-Paulet, Marie Ruffier-Bourdet, Daphné Lehalle, Julien Thevenon, Nicole Philip, Marlène Bonnet, Frédéric Huet, Claire Redin, Laurence Faivre, Jean-Louis Mandel, Amélie Piton, Gaëlle Blanchard, Odile Perret
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. 〈10.1002/ajmg.a.37765〉
American Journal of Medical Genetics Part A, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. 〈10.1002/ajmg.a.37765〉
American Journal of Medical Genetics Part A, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic micro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d693fe8769b15989697fc7ea973436
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01680171
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01680171
Autor:
Julien Thevenon, Judith St-Onge, Bernard Aral, Patrick Callier, Salima El Chehadeh, Pierre Sarda, Christian P. Hamel, Virginie Carmignac, Frédéric Huet, Nathalie Droin, Lucie Gueneau, Laurence Duplomb, Christel Thauvin-Robinet, Laurence Faivre, Nadège Gigot
Publikováno v:
American Journal of Medical Genetics Part A. 164:522-527
Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive choriore
Autor:
Bernard Aral, Nadège Gigot, François-Guillaume Debray, Alice Masurel-Paulet, Patrick Rump, Christel Thauvin-Robinet, Frédéric Huet, Muriel Holder-Espinasse, Marlène Rio, Laurence Duplomb, Patrick Callier, Edward Blair, Anne-Marie Frances, Salima El Chehadeh-Djebbar, Anne Moncla, Laurence Faivre
Publikováno v:
European Journal of Human Genetics, 21(7), 736-742. Nature Publishing Group
Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutrop
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