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

Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome

SREK1基因的双等位基因变异导致SNORD115和SNORD116表达下调,从而引起类似普拉德-威利综合征的症状。

Saeed, Sadia; Siegert, Anna-Maria; Tung, Y C Loraine; Khanam, Roohia; Janjua, Qasim M; Manzoor, Jaida; Derhourhi, Mehdi; Toussaint, Bénédicte; Lam, Brian Yh; Mahmoud, Sherine Awad; Vaillant, Emmanuel; Buse Falay, Emmanuel; Amanzougarene, Souhila; Ayesha, Hina; Khan, Waqas I; Ramazan, Nosheen; Saudek, Vladimir; O'Rahilly, Stephen; Goldstone, Anthony P; Arslan, Muhammad; Bonnefond, Amélie; Froguel, Philippe; Yeo, Giles Sh

Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas

GLIS3基因中的致病性单等位基因变异会增加2型糖尿病的风险,并能识别出对磺脲类药物敏感的患者亚群。

Meulebrouck, Sarah; Scherrer, Victoria; Boutry, Raphaël; Toussaint, Bénédicte; Vaillant, Emmanuel; Dechaume, Aurélie; Loiselle, Hélène; Balkau, Beverley; Charpentier, Guillaume; Franc, Sylvia; Marre, Michel; Baron, Morgane; Vaxillaire, Martine; Derhourhi, Mehdi; Boissel, Mathilde; Froguel, Philippe; Bonnefond, Amélie

Monoallelic pathogenic variants in LEPR do not cause obesity

LEPR基因的单等位致病变异不会导致肥胖。

Delplanque, Jérôme; Le Collen, Lauriane; Loiselle, Hélène; Leloire, Audrey; Toussaint, Bénédicte; Vaillant, Emmanuel; Charpentier, Guillaume; Franc, Sylvia; Balkau, Beverley; Marre, Michel; Henriques, Emma; Buse Falay, Emmanuel; Derhourhi, Mehdi; Froguel, Philippe; Bonnefond, Amélie

Biallelic Mutations in P4HTM Cause Syndromic Obesity

P4HTM基因的双等位基因突变导致综合征性肥胖

Saeed, Sadia; Ning, Lijiao; Badreddine, Alaa; Mirza, Muhammad Usman; Boissel, Mathilde; Khanam, Roohia; Manzoor, Jaida; Janjua, Qasim M; Khan, Waqas I; Toussaint, Bénédicte; Vaillant, Emmanuel; Amanzougarene, Souhila; Derhourhi, Mehdi; Trant, John F; Siegert, Anna-Maria; Lam, Brian Y H; Yeo, Giles S H; Chabraoui, Layachi; Touzani, Asmae; Kulkarni, Abhishek; Farooqi, I Sadaf; Bonnefond, Amélie; Arslan, Muhammad; Froguel, Philippe

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

一名患有糖尿病、智力缺陷和双行睫毛等综合征的患者,其病因是复合遗传因素。

Le Collen, Lauriane; Delemer, Brigitte; Spodenkiewicz, Marta; Cornillet Lefebvre, Pascale; Durand, Emmanuelle; Vaillant, Emmanuel; Badreddine, Alaa; Derhourhi, Mehdi; Mouhoub, Tarik Ait; Jouret, Guillaume; Juttet, Pauline; Souchon, Pierre François; Vaxillaire, Martine; Froguel, Philippe; Bonnefond, Amélie; Doco Fenzy, Martine

Widespread overexpression from the four DNA hypermethylated HOX clusters in aggressive (IDHwt) glioma is associated with H3K27me3 depletion and alternative promoter usage

侵袭性 (IDHwt) 胶质瘤中四个 DNA 高甲基化 HOX 簇的广泛过表达与 H3K27me3 耗竭和替代启动子使用有关

Elisa Le Boiteux, Franck Court, Pierre-Olivier Guichet, Catherine Vaurs-Barrière, Isabelle Vaillant, Emmanuel Chautard, Pierre Verrelle, Bruno M Costa, Lucie Karayan-Tapon, Anne Fogli, Philippe Arnaud

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

What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

单基因糖尿病和肥胖症分子诊断的最佳NGS富集方法是什么?

Philippe, Julien; Derhourhi, Mehdi; Durand, Emmanuelle; Vaillant, Emmanuel; Dechaume, Aurélie; Rabearivelo, Iandry; Dhennin, Véronique; Vaxillaire, Martine; De Graeve, Franck; Sand, Olivier; Froguel, Philippe; Bonnefond, Amélie

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