日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

MRAP2 功能丧失突变是高血糖和高血压伴过度摄食性肥胖的致病因素

Baron Morgane, Maillet Julie, Huyvaert Marlène, Dechaume Aurélie, Boutry Raphaël, Loiselle Hélène, Durand Emmanuelle, Toussaint Bénédicte, Vaillant Emmanuel, Philippe Julien, Thomas Jérémy, Ghulam Amjad, Franc Sylvia, Charpentier Guillaume, Borys Jean-Michel, Lévy-Marchal Claire, Tauber Maïthé, Scharfmann Raphaël, Weill Jacques, Aubert Cécile, Kerr-Conte Julie, Pattou François, Roussel Ronan, Balkau Beverley, Marre Michel, Boissel Mathilde, Derhourhi Mehdi, Gaget Stefan, Canouil Mickaël, Froguel Philippe, Bonnefond Amélie

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability

CoDE-seq 是一种增强型全外显子组测序技术,能够准确检测孟德尔遗传性肥胖和智力障碍中的拷贝数变异 (CNV) 和突变。

Montagne, Louise; Derhourhi, Mehdi; Piton, Amélie; Toussaint, Bénédicte; Durand, Emmanuelle; Vaillant, Emmanuel; Thuillier, Dorothée; Gaget, Stefan; De Graeve, Franck; Rabearivelo, Iandry; Lansiaux, Amélie; Lenne, Bruno; Sukno, Sylvie; Desailloud, Rachel; Cnop, Miriam; Nicolescu, Ramona; Cohen, Lior; Zagury, Jean-François; Amouyal, Mélanie; Weill, Jacques; Muller, Jean; Sand, Olivier; Delobel, Bruno; Froguel, Philippe; Bonnefond, Amélie

Relationship between salivary/pancreatic amylase and body mass index: a systems biology approach

唾液/胰腺淀粉酶与体重指数的关系:系统生物学方法

Bonnefond, Amélie; Yengo, Loïc; Dechaume, Aurélie; Canouil, Mickaël; Castelain, Maxime; Roger, Estelle; Allegaert, Frédéric; Caiazzo, Robert; Raverdy, Violeta; Pigeyre, Marie; Arredouani, Abdelilah; Borys, Jean-Michel; Lévy-Marchal, Claire; Weill, Jacques; Roussel, Ronan; Balkau, Beverley; Marre, Michel; Pattou, François; Brousseau, Thierry; Froguel, Philippe

Allelic variation contributes to bacterial host specificity

等位基因变异导致细菌宿主特异性

Min Yue, Xiangan Han, Leon De Masi, Chunhong Zhu, Xun Ma, Junjie Zhang, Renwei Wu, Robert Schmieder, Radhey S Kaushik, George P Fraser, Shaohua Zhao, Patrick F McDermott, François-Xavier Weill, Jacques G Mainil, Cesar Arze, W Florian Fricke, Robert A Edwards, Dustin Brisson, Nancy R Zhang, Shelley C

Low copy number of the salivary amylase gene predisposes to obesity

唾液淀粉酶基因拷贝数低是肥胖的危险因素。

Falchi, Mario; El-Sayed Moustafa, Julia Sarah; Takousis, Petros; Pesce, Francesco; Bonnefond, Amélie; Andersson-Assarsson, Johanna C; Sudmant, Peter H; Dorajoo, Rajkumar; Al-Shafai, Mashael Nedham; Bottolo, Leonardo; Ozdemir, Erdal; So, Hon-Cheong; Davies, Robert W; Patrice, Alexandre; Dent, Robert; Mangino, Massimo; Hysi, Pirro G; Dechaume, Aurélie; Huyvaert, Marlène; Skinner, Jane; Pigeyre, Marie; Caiazzo, Robert; Raverdy, Violeta; Vaillant, Emmanuel; Field, Sarah; Balkau, Beverley; Marre, Michel; Visvikis-Siest, Sophie; Weill, Jacques; Poulain-Godefroy, Odile; Jacobson, Peter; Sjostrom, Lars; Hammond, Christopher J; Deloukas, Panos; Sham, Pak Chung; McPherson, Ruth; Lee, Jeannette; Tai, E Shyong; Sladek, Robert; Carlsson, Lena M S; Walley, Andrew; Eichler, Evan E; Pattou, Francois; Spector, Timothy D; Froguel, Philippe

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features

SIM1基因功能缺失突变会导致肥胖和类似普拉德-威利综合征的特征。

Bonnefond, Amélie; Raimondo, Anne; Stutzmann, Fanny; Ghoussaini, Maya; Ramachandrappa, Shwetha; Bersten, David C; Durand, Emmanuelle; Vatin, Vincent; Balkau, Beverley; Lantieri, Olivier; Raverdy, Violeta; Pattou, François; Van Hul, Wim; Van Gaal, Luc; Peet, Daniel J; Weill, Jacques; Miller, Jennifer L; Horber, Fritz; Goldstone, Anthony P; Driscoll, Daniel J; Bruning, John B; Meyre, David; Whitelaw, Murray L; Froguel, Philippe

Radiographic features of osteogenesis imperfecta

成骨不全的放射学特征

Renaud, Armelle; Aucourt, Julie; Weill, Jacques; Bigot, Julien; Dieux, Anne; Devisme, Louise; Moraux, Antoine; Boutry, Nathalie

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations

对 70 名 46,XY DSD 儿童进行 MAMLD1 基因突变筛查:鉴定并进行两种新突变的功能分析

Kalfa, Nicolas; Fukami, Maki; Philibert, Pascal; Audran, Francoise; Pienkowski, Catherine; Weill, Jacques; Pinto, Graziella; Manouvrier, Sylvie; Polak, Michel; Ogata, Totsumo; Sultan, Charles

Analysis of the SIM1 contribution to polygenic obesity in the French population

对SIM1基因在法国人群多基因肥胖症中的作用进行分析

Ghoussaini, Maya; Stutzmann, Fanny; Couturier, Cyril; Vatin, Vincent; Durand, Emmanuelle; Lecoeur, Cécile; Degraeve, Franck; Heude, Barbara; Tauber, Maithé; Hercberg, Serge; Levy-Marchal, Claire; Tounian, Patrick; Weill, Jacques; Traurig, Michael; Bogardus, Clifton; Baier, Leslie J; Michaud, Jacques L; Froguel, Philippe; Meyre, David

Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes

ENPP1基因变异与儿童和成人肥胖相关,并增加葡萄糖耐量异常和2型糖尿病的风险。

Meyre, David; Bouatia-Naji, Nabila; Tounian, Agnès; Samson, Chantal; Lecoeur, Cécile; Vatin, Vincent; Ghoussaini, Maya; Wachter, Christophe; Hercberg, Serge; Charpentier, Guillaume; Patsch, Wolfgang; Pattou, François; Charles, Marie-Aline; Tounian, Patrick; Clément, Karine; Jouret, Béatrice; Weill, Jacques; Maddux, Betty A; Goldfine, Ira D; Walley, Andrew; Boutin, Philippe; Dina, Christian; Froguel, Philippe