Zobrazeno 31 - 40
of 189
pro vyhledávání: '"Frédéric Huet"'
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:
Judith St-Onge, Anne-Laure Mosca-Boidron, Thibaud Jouan, Frédéric Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Sebastien Moutton, Aurélie Bourchany, Nolwenn Jean, Aurélia Jaquette, Christel Thauvin-Robinet, Daphné Lehalle, Elise Schaefer, Nada Houcinat, Charlotte Poe, Yannis Duffourd, Paul Kuentz, Salima El Chehadeh-Djebbar, Alice Masurel-Paulet, Martin Chevarin, Laurence Faivre, Sophie Nambot, Marjorie Willems, Mathilde Lefebvre, Nicole Laurent, Antonio Vitobello, Frédéric Huet, Julien Thevenon, Patrick Callier, Jean-Baptiste Rivière, Christophe Philippe
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. 〈http://www.sciencedirect.com/science/article/pii/S1769721217301957?via%3Dihub〉. 〈10.1016/j.ejmg.2017.08.011〉
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. ⟨10.1016/j.ejmg.2017.08.011⟩
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. 〈http://www.sciencedirect.com/science/article/pii/S1769721217301957?via%3Dihub〉. 〈10.1016/j.ejmg.2017.08.011〉
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. ⟨10.1016/j.ejmg.2017.08.011⟩
IF 2.137; International audience; BACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::125f5ad428afc365a62dc4dbfa3b08ee
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01626052
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01626052
Autor:
C. Thauvin-Robinet, Hery G, Nicholas Katsanis, Aurélie Fabre, Ecochard-Dugelay E, De Leusse C, Y. Rimet, Ange-Line Bruel, Delarue A, P. Gauchez, Xavier Stéphenne, Patrice Bourgeois, R. Maudinas, Ludmila Francescatto, Céline Brochier-Armanet, Yannis Duffourd, Arnaud Blanchard, Marinier E, Laurence Faivre, Olivier Goulet, Perciliz L. Tan, Caroline Lacoste, J. Sarles, Jean-Pierre Hugot, Clothilde Esteve, K. Mazodier, Sabine Sigaudy, Emmanuel Gonzales, Aurélie Bourchany, Nicolas Lévy, C. Guettier-Bouttier, Catherine Badens, Frédéric Huet, Jean-Baptiste Rivière, Julien Thevenon, Bertrand Roquelaure, Mina Komuta
Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with hitherto unknown syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a945bf6d094774e2e1455ab27bb53b0
Autor:
C. Thauvin-Robinet, S. El Chehadeh, Irina Giurgea, Aurélie Bourchany, Frédéric Huet, Stanislas Lyonnet, P.O. Lafontaine, Alice Masurel-Paulet, Dominique Bremond-Gignac, Alice Goldenberg, J. Massy, Laurence Faivre, C. Paillot, Julien Thevenon, D. Thouvenin, Gilles Morin, Alain Bron, Catherine Creuzot-Garcher, Alice Duncombe
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (7), pp.1587-1592. ⟨10.1002/ajmg.a.36898⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (7), pp.1587-1592. ⟨10.1002/ajmg.a.36898⟩
Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding h
Autor:
Isabelle Durieu, E. Darviot, J.-L. Giniès, Raphaele Nove-Josserand, Charlotte Giraut, Anne Munck, Marie-Francoise Hurtaud, Michael Fayon, Muriel Le Bourgeois, A. Sardet, Raphaël Chiron, Marlène Murris-Epin, Annelyse Fanton, B. Delaisi, Dominique Hubert, Laure Couderc, Corinne Alberti, Dominique Grenet, Frédéric Huet, Marie Laure Dalphin, Stéphanie Wanin, François Bremont, Stéphane Dominique, Françoise Varaigne, Reynaud-Gaubert Martine, Marcel Guillot, S. Ramel, Laurence Weiss, M. Gerardin, Ahmed Kheniche, Isabelle Pin, Isabelle Sermet-Gaudelus
Publikováno v:
Journal of Cystic Fibrosis. 14:97-103
Background and Aims Catheter venous thrombosis may result in life-threatening embolic complications. Recently, a thrombophilic tendency was described in cystic fibrosis (CF), the significance of which remains unclear. The aims of this study were to (
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:
Derek Forde, Frédéric Huet, Thomas Ludwig, Jonathan O'b Hourihane, Philippe Alliet, Hetty Bouritius, Yvan Vandenplas, Stefaan Peeters
Publikováno v:
Acta Paediatrica
Acta Paediatrica, Wiley, 2017, 106 (7), pp.1150-1158. ⟨10.1111/apa.13844⟩
www.wiley.com
Acta Paediatrica, Wiley, 2017, 106 (7), pp.1150-1158. 〈www.wiley.com〉. 〈10.1111/apa.13844〉
Acta Paediatrica (Oslo, Norway : 1992)
Acta Paediatrica, Wiley, 2017, 106 (7), pp.1150-1158. ⟨10.1111/apa.13844⟩
www.wiley.com
Acta Paediatrica, Wiley, 2017, 106 (7), pp.1150-1158. 〈www.wiley.com〉. 〈10.1111/apa.13844〉
Acta Paediatrica (Oslo, Norway : 1992)
Aim: We examined the effects on gastrointestinal (GI) tolerance of a novel infant formula that combined specific fermented formula (FERM) with short-chain galacto-oligosaccharides and long-chain fructo-oligosaccharides (scGOS/lcFOS), with a 9: 1 rati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2008b73c4c48b7d695da045224cba0f
https://hdl.handle.net/20.500.14017/7b7730a5-f8dc-4024-9717-e63cfb7400dd
https://hdl.handle.net/20.500.14017/7b7730a5-f8dc-4024-9717-e63cfb7400dd
Autor:
Patrick Callier, Angélique Quartier, Matthieu Jung, Brigitte Gilbert-Dussardier, Vincent des Portes, Claire Feger, Bernard Jost, Bénédicte Gérard, Stéphanie Le Gras, Daphné Lehalle, Elsa Nourisson, Anne-Sophie Casteleyn, Claire Redin, Julien Thevenon, Anne-Laure Mosca-Boidron, Laurence Faivre, Hélène Poquet, Frédéric Huet, Paul Kuentz, Christel Thauvin-Robinet, Véronique Geoffroy, Jean-Louis Mandel, Massimiliano Rossi, Gaetan Lesca, Alice Masurel, Patrick Edery, Benoit Trojak, Salima El Chehadeh, Stéphanie Maury, Jean Muller, Amélie Piton
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. ⟨10.1038/ejhg.2016.204⟩
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. 〈http://www.nature.com〉. 〈10.1038/ejhg.2016.204〉
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. ⟨10.1038/ejhg.2016.204⟩
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. 〈http://www.nature.com〉. 〈10.1038/ejhg.2016.204〉
International audience; Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8096765ee7003b1568cbf3022e0ec345
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560313
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560313
Autor:
Yannick, Béjot, Benoit, Delpont, Christelle, Blanc, Véronique, Darmency, Frédéric, Huet, Maurice, Giroud
Publikováno v:
Soins. Pediatrie, puericulture. 38(295)
Incidence of perinatal arterial stroke (ischemic stroke, intracerebral hemorrhage and subarachnoid hemorrhage) occurring between 20 weeks of gestation and postnatal day 28 ranges between 20 and 65 cases per 100,000 living births. In children aged 29
Publikováno v:
Archives de Pédiatrie. 21:233-236
Resume Le depistage neonatal de l’hyperplasie congenitale des surrenales est generalise en France depuis 1995. Une evaluation recente a remis en question son interet chez le premature du fait d’un tres grand nombre de faux-positifs et d’une val