未登录Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome
Le Collen, Lauriane; Desgrouas, Camille; Lukas Croisier, Celine; Creugnet, Brunot; Dechaume, Aurelie; Toussaint, Benedicte; Vaillant, Emmanuel; Amanzougarene, Souhila; Buse Falay, Emmanuel; Derhourhi, Mehdi; Lourdelle, Alexandre; Delemer, Brigitte; Bonello-Palot, Nathalie; Vaxillaire, Martine; Badens, Catherine; Froguel, Philippe; Bonnefond, Amelie .png)
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收藏Exploring the role of purinergic receptor P2RY1 in type 2 diabetes risk and pathophysiology: Insights from human functional genomicsDance, Arnaud; Fernandes, Justine; Toussaint, Benedicte; Vaillant, Emmanuel; Boutry, Raphael; Baron, Morgane; Loiselle, Helene; Balkau, Beverley; Charpentier, Guillaume; Franc, Sylvia; Ibberson, Mark; Marre, Michel; Gernay, Marie; Fadeur, Marjorie; Paquot, Nicolas; Vaxillaire, Martine; Boissel, Mathilde; Amanzougarene, Souhila; Derhourhi, Mehdi; Khamis, Amna; Froguel, Philippe; Bonnefond, Amelie 分享 收藏 Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureasMeulebrouck, Sarah; Scherrer, Victoria; Boutry, Raphael; Toussaint, Benedicte; Vaillant, Emmanuel; Dechaume, Aurelie; Loiselle, Helene; Balkau, Beverley; Charpentier, Guillaume; Franc, Sylvia; Marre, Michel; Baron, Morgane; Vaxillaire, Martine; Derhourhi, Mehdi; Boissel, Mathilde; Froguel, Philippe; Bonnefond, Amelie 分享 收藏 Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist usePOMC中的杂合致病变异与单基因肥胖无关: 对MC4R激动剂使用的影响Le Collen, Lauriane; Delemer, Brigitte; Poitou, Christine; Vaxillaire, Martine; Toussaint, Benedicte; Dechaume, Aurelie; Badreddine, Alaa; Boissel, Mathilde; Derhourhi, Mehdi; Clement, Karine; Petit, Jean M.; Mau-Them, Frederic Tran; Bruel, Ange-Line; Thauvin-Robinet, Christel; Saveanu, Alexandru; Cherifi, Blandine Gatta; Le Beyec-Le Bihan, Johanne; Froguel, Philippe; Bonnefond, Amelie 分享 收藏 Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasisLe Collen, Lauriane; Delemer, Brigitte; Spodenkiewicz, Marta; Lefebvre, Pascale Cornillet; Durand, Emmanuelle; Vaillant, Emmanuel; Badreddine, Alaa; Derhourhi, Mehdi; Mouhoub, Tarik Ait; Jouret, Guillaume; Juttet, Pauline; Souchon, Pierre Francois; Vaxillaire, Martine; Froguel, Philippe; Bonnefond, Amelie; Fenzy, Martine Doco 分享 收藏 Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countriesVaxillaire, Martine; Bonnefond, Amelie; Liatis, Stavros; Hachmi, Leila Ben Salem; Jotic, Aleksandra; Boissel, Mathilde; Gaget, Stefan; Durand, Emmanuelle; Vaillant, Emmanuel; Derhourhi, Mehdi; Canouil, Mickael; Larcher, Nicolas; Allegaert, Frederic; Medlej, Rita; Chadli, Asma; Belhadj, Azzedine; Chaieb, Molka; Raposo, Joao-Felipe; Ilkova, Hasan; Loizou, Doros; Lalic, Nebojsa; Vassallo, Josanne; Marre, Michel; Froguel, Philippe 分享 收藏 Pathogenic variants in actionable MODY genes are associated with type 2 diabetesBonnefond, Amelie; Boissel, Mathilde; Bolze, Alexandre; Durand, Emmanuelle; Toussaint, Benedicte; Vaillant, Emmanuel; Gaget, Stefan; De Graeve, Franck; Dechaume, Aurelie; Allegaert, Frederic; Le Guilcher, David; Yengo, Loic; Dhennin, Veronique; Borys, Jean-Michel; Lu, James T.; Cirulli, Elizabeth T.; Elhanan, Gai; Roussel, Ronan; Balkau, Beverley; Marre, Michel; Franc, Sylvia; Charpentier, Guillaume; Vaxillaire, Martine; Canouil, Mickael; Washington, Nicole L.; Grzymski, Joseph J.; Froguel, Philippe 分享 收藏 分享 收藏 分享 收藏 A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndromeHancili, Suna; Bonnefond, Amelie; Philippe, Julien; Vaillant, Emmanuel; De Graeve, Franck; Sand, Olivier; Busiah, Kanetee; Robert, Jean-Jacques; Polak, Michel; Froguel, Philippe; Guven, Ayla; Vaxillaire, Martine 分享 收藏 Impact of statistical models on the prediction of type 2 diabetes using non-targeted metabolomics profilingYengo, Loic; Arredouani, Abdelilah; Marre, Michel; Roussel, Ronan; Vaxillaire, Martine; Falchi, Mario; Haoudi, Abdelali; Tichet, Jean; Balkau, Beverley; Bonnefond, Amelie; Froguel, Philippe 分享 收藏 分享 收藏 分享 收藏 RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β CellsChandra, Vikash; Albagli-Curiel, Olivier; Hastoy, Benoit; Piccand, Julie; Randriamampita, Clotilde; Vaillant, Emmanuel; Cave, Helene; Busiah, Kanetee; Froguel, Philippe; Vaxillaire, Martine; Rorsman, Patrik; Polak, Michel; Scharfmann, Raphael 分享 收藏 Type 2 diabetes-related genetic risk scores associated with variations in fasting plasma glucose and development of impaired glucose homeostasis in the prospective DESIR studyVaxillaire, Martine; Yengo, Loic; Lobbens, Stephane; Rocheleau, Ghislain; Eury, Elodie; Lantieri, Olivier; Marre, Michel; Balkau, Beverley; Bonnefond, Amelie; Froguel, Philippe 分享 收藏 The genetic abnormality in the beta cell determines the response to an oral glucose loadStride, A; Vaxillaire, M; Tuomi, T; Barbetti, F; Njolstad, PR; Hansen, T; Costa, A; Conget, I; Pedersen, O; Sovik, O; Lorini, R; Groop, L; Froguel, P; Hattersley, AT 分享 收藏 Highly Sensitive Diagnosis of 43 Monogenic Forms of Diabetes or Obesity Through One-Step PCR-Based Enrichment in Combination With Next-Generation SequencingBonnefond, Amelie; Philippe, Julien; Durand, Emmanuelle; Muller, Jean; Saeed, Sadia; Arslan, Muhammad; Martinez, Rosa; De Graeve, Franck; Dhennin, Veronique; Rabearivelo, Iandry; Polak, Michel; Cave, Helene; Castano, Luis; Vaxillaire, Martine; Mandel, Jean-Louis; Sand, Olivier; Froguel, Philippe 分享 收藏 Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes重新评估BLK-p.A71T功能丧失突变在MODY和2型糖尿病中的推定作用Bonnefond, A.; Yengo, L.; Philippe, J.; Dechaume, A.; Ezzidi, I.; Vaillant, E.; Gjesing, A. P.; Andersson, E. A.; Czernichow, S.; Hercberg, S.; Hadjadj, S.; Charpentier, G.; Lantieri, O.; Balkau, B.; Marre, M.; Pedersen, O.; Hansen, T.; Froguel, P.; Vaxillaire, M. 分享 收藏 GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetesBonnefond, A.; Sand, O.; Guerin, B.; Durand, E.; De Graeve, F.; Huyvaert, M.; Rachdi, L.; Kerr-Conte, J.; Pattou, F.; Vaxillaire, M.; Polak, M.; Scharfmann, R.; Czernichow, P.; Froguel, P. 分享 收藏 
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