Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Franck De Graeve"'
Autor:
Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, Amélie Bonnefond
Publikováno v:
Molecular Metabolism, Vol 13, Iss , Pp 1-9 (2018)
Objective: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both copy number variations (CNVs) and point mutations, is crucial for an optimal care of the patients and genetic counseling for their families. Whole-exo
Externí odkaz:
https://doaj.org/article/31587e1c7e5942a9a6d20496894a49c3
Autor:
Julien Philippe, Mehdi Derhourhi, Emmanuelle Durand, Emmanuel Vaillant, Aurélie Dechaume, Iandry Rabearivelo, Véronique Dhennin, Martine Vaxillaire, Franck De Graeve, Olivier Sand, Philippe Froguel, Amélie Bonnefond
Publikováno v:
PLoS ONE, Vol 10, Iss 11, p e0143373 (2015)
Molecular diagnosis of monogenic diabetes and obesity is of paramount importance for both the patient and society, as it can result in personalized medicine associated with a better life and it eventually saves health care spending. Genetic clinical
Externí odkaz:
https://doaj.org/article/2b0b009e644741e28638de85dfe3711c
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
Autor:
Amélie Bonnefond, Julien Philippe, Emmanuelle Durand, Aurélie Dechaume, Marlène Huyvaert, Louise Montagne, Michel Marre, Beverley Balkau, Isabelle Fajardy, Anne Vambergue, Vincent Vatin, Jérôme Delplanque, David Le Guilcher, Franck De Graeve, Cécile Lecoeur, Olivier Sand, Martine Vaxillaire, Philippe Froguel
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e37423 (2012)
BACKGROUND: Maturity-onset of the young (MODY) is a clinically heterogeneous form of diabetes characterized by an autosomal-dominant mode of inheritance, an onset before the age of 25 years, and a primary defect in the pancreatic beta-cell function.
Externí odkaz:
https://doaj.org/article/fb62a9cc488c43c0aac3eab59593d5c0
Autor:
Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné-Chantelot, Louis Létourneau, Raphael Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13630 (2010)
Accurate molecular diagnosis of monogenic non-autoimmune neonatal diabetes mellitus (NDM) is critical for patient care, as patients carrying a mutation in KCNJ11 or ABCC8 can be treated by oral sulfonylurea drugs instead of insulin therapy. This diag
Externí odkaz:
https://doaj.org/article/e73feef1b1744a2781107a84e361c0a7
Autor:
Stéphane Cauchi, David Meyre, Emmanuelle Durand, Christine Proença, Michel Marre, Samy Hadjadj, Hélène Choquet, Franck De Graeve, Stefan Gaget, Frederic Allegaert, Jérôme Delplanque, Marshall Alan Permutt, Jon Wasson, Ilana Blech, Guillaume Charpentier, Beverley Balkau, Anne-Claire Vergnaud, Sébastien Czernichow, Wolfgang Patsch, Mohamed Chikri, Benjamin Glaser, Robert Sladek, Philippe Froguel
Publikováno v:
PLoS ONE, Vol 3, Iss 5, p e2031 (2008)
Recently, several Genome Wide Association (GWA) studies in populations of European descent have identified and validated novel single nucleotide polymorphisms (SNPs), highly associated with type 2 diabetes (T2D). Our aims were to validate these marke
Externí odkaz:
https://doaj.org/article/4e7c6b6f070f4a8cadb0fec1a1e23371
Autor:
Elizabeth T. Cirulli, Nicole L. Washington, Mickaël Canouil, Guillaume Charpentier, Emmanuelle Durand, Jean-Michel Borys, Alexandre Bolze, Franck De Graeve, Aurélie Dechaume, David Le Guilcher, Beverley Balkau, Sylvia Franc, Frédéric Allegaert, Ronan Roussel, Emmanuel Vaillant, Philippe Froguel, Gai Elhanan, Stefan Gaget, Joseph J. Grzymski, Loic Yengo, Véronique Dhennin, Amélie Bonnefond, James T. Lu, M Vaxillaire, Mathilde Boissel, Michel Marre, Bénédicte Toussaint
Publikováno v:
Nature Metabolism
Nature Metabolism, Nature Publishing Group, 2020, 2 (10), pp.1126-1134. ⟨10.1038/s42255-020-00294-3⟩
Nature Metabolism, 2020, 2 (10), pp.1126-1134. ⟨10.1038/s42255-020-00294-3⟩
Nature Metabolism, Nature Publishing Group, 2020, 2 (10), pp.1126-1134. ⟨10.1038/s42255-020-00294-3⟩
Nature Metabolism, 2020, 2 (10), pp.1126-1134. ⟨10.1038/s42255-020-00294-3⟩
International audience; Genome-wide association studies have identified 240 independent loci associated with type 2 diabetes (T2D) risk, but this knowledge has not advanced precision medicine. In contrast, the genetic diagnosis of monogenic forms of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60c6655a2e33d745bc52c64ec66be68b
https://doi.org/10.1038/s42255-020-00294-3
https://doi.org/10.1038/s42255-020-00294-3
Autor:
Amélie Bonnefond, Franck De Graeve, Laurent Larifla, Philippe Froguel, Véronique Dhennin, Lydia Foucan, Christine Rambhojan, Iandry Rabearivelo, Carl-Thony Michel, Christophe Armand, Emmanuelle Durand, Rachel Billy, Olivier Sand, Jean-Marc Lacorte
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 103:539-545
Context The population of Guadeloupe Island exhibits a high prevalence of obesity. Objective We aimed to investigate whether rare genetic mutations in genes involved in monogenic obesity (or diabetes) might be causal in this population of Afro-Caribb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345819907ec518c4675c9f55d575f23c
https://doi.org/10.1210/jc.2017-01956
https://doi.org/10.1210/jc.2017-01956
Autor:
Ayla Güven, Emmanuel Vaillant, Amélie Bonnefond, Franck De Graeve, J. Philippe, Suna Hancili, Philippe Froguel, Olivier Sand, Martine Vaxillaire, Jean-Jacques Robert, Kanetee Busiah, Michel Polak
Publikováno v:
Pediatric diabetes. 19(3)
Neonatal diabetes mellitus (NDM) is a rare form of non-autoimmune diabetes usually diagnosed in the first 6 months of life. Various genetic defects have been shown to cause NDM with diverse clinical presentations and variable severity. Among transcri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d29d2a8472ff7b7053bb3e17af59ca
https://pubmed.ncbi.nlm.nih.gov/28940958
https://pubmed.ncbi.nlm.nih.gov/28940958
Autor:
Raphaël Boutry, Amar Abderrahmani, Philippe Froguel, Qasim M. Janjua, Sadia Saeed, Waqas I. Khan, Jochen Lang, Muhammad Usman Mirza, Emmanuelle Durand, Franck De Graeve, Taeed A. Butt, Olivier Sand, Jaida Manzoor, Muhammad Ali, G. Queniat, Julien Gaitan, Tuula Rinne, Amélie Bonnefond, Iandry Rabearivelo, Dina A. Schott, Connie T.R.M. Stumpel, Hina Ayesha, Alexandra Milochau, Emmanuel Vaillant, Sadia M. Din, Attiya Haseeb, Filippo Tamanini, Muhammad Arslan
Publikováno v:
Nature Genetics, 50, 175
Nature Genetics
Nature Genetics, Nature Publishing Group, In press, 50 (2), pp.175-+. ⟨10.1038/s41588-017-0023-6⟩
Nature Genetics, 50(2), 175-179. Nature Publishing Group
Nature Genetics, 50, 2, pp. 175
Nature Genetics
Nature Genetics, Nature Publishing Group, In press, 50 (2), pp.175-+. ⟨10.1038/s41588-017-0023-6⟩
Nature Genetics, 50(2), 175-179. Nature Publishing Group
Nature Genetics, 50, 2, pp. 175
Study of monogenic forms of obesity has demonstrated the pivotal role of the central leptin–melanocortin pathway in controlling energy balance, appetite and body weight1. The majority of loss-of-function mutations (mostly recessive or co-dominant)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::582279290140bfcdfad99c08b53cc218
https://doi.org/10.1038/s41588-017-0023-6
https://doi.org/10.1038/s41588-017-0023-6
Autor:
Jean-Claude Chèvre, Jacques Weill, Claire Levy-Marchal, Barbara Heude, Torben Hansen, Katleen Lemaire, Paul Elliott, Marion Marchand, Stéphane Lobbens, Christian Dina, Philippe Froguel, Oluf Pedersen, Jérôme Delplanque, Ghislain Rocheleau, Andrew Walley, Torben Jørgensen, Jean Tichet, Aimo Ruokonen, Knut Borch-Johnsen, Thomas Sparsø, François Pattou, Robert Sladek, Christine Cavalcanti-Proença, Sophie Visvikis-Siest, Alexandra I. F. Blakemore, M. R. Järvelin, Amélie Bonnefond, Maithé Tauber, Michel Marre, Anna-Liisa Hartikainen, Emmanuelle Durand, Beverley Balkau, Frans Schuit, Johan Holmkvist, Stéphane Cauchi, Nabila Bouatia-Naji, Samy Hadjadj, Guillaume Charpentier, Franck De Graeve, David Meyre, Martine Vaxillaire
Publikováno v:
Bouatia-Naji, N, Bonnefond, A, Cavalcanti-Proença, C, Sparsø, T, Holmkvist, J, Marchand, M, Delplanque, J, Lobbens, S, Rocheleau, G, Durand, E, De Graeve, F, Chèvre, J-C, Borch-Johnsen, K, Hartikainen, A-L, Ruokonen, A, Tichet, J, Marre, M, Weill, J, Heude, B, Tauber, M, Lemaire, K, Schuit, F, Elliott, P, Jørgensen, T, Charpentier, G, Hadjadj, S, Cauchi, S, Vaxillaire, M, Sladek, R, Visvikis-Siest, S, Balkau, B, Lévy-Marchal, C, Pattou, F, Meyre, D, Blakemore, A I F, Jarvelin, M-R, Walley, A J, Hansen, T, Dina, C, Pedersen, O & Froguel, P 2009, ' A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk ', Nature Genetics, vol. 41, no. 1, pp. 89-94 . https://doi.org/10.1038/ng.277
Nature Genetics, 41(1), 89-94. Nature Publishing Group
Nature Genetics, 41(1), 89-94. Nature Publishing Group
In genome-wide association (GWA) data from 2,151 nondiabetic French subjects, we identified rs1387153, near MTNR1B (which encodes the melatonin receptor 2 (MT2)), as a modulator of fasting plasma glucose (FPG; P = 1.3 x 10(-7)). In European populatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e5cfc27826619cefc4613d72b23c299
https://doi.org/10.1038/ng.277
https://doi.org/10.1038/ng.277