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

Health-related Quality of Life, Social, and Psychological Well-Being of 109 Adult Patients With Genetic Lipodystrophy

109名遗传性脂肪营养不良成年患者的健康相关生活质量、社会和心理健康状况

Mosbah, Héléna; Vatier, Camille; Andriss, Béatrice; Belalem, Inès; Delemer, Brigitte; Janmaat, Sonja; Bouhnik, Anne-Deborah; Le Collen, Lauriane; Maiter, Dominique; Nobécourt, Estelle; Vantyghem, Marie-Christine; Vigouroux, Corinne; Dumas, Agnes

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

SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?

SDHx 突变和垂体腺瘤:体内 1H-MR 光谱能否揭示其中的联系?

Francesca Branzoli, Betty Salgues, Małgorzata Marjańska, Marie Laloi-Michelin, Philippe Herman, Lauriane Le Collen, Brigitte Delemer, Julien Riancho, Emmanuelle Kuhn, Christel Jublanc, Nelly Burnichon, Laurence Amar, Judith Favier, Anne-Paule Gimenez-Roqueplo, Alexandre Buffet, Charlotte Lussey-Lepo

Early Detection of Relapse by ctDNA Sequencing in a Patient with Metastatic Thymic Tumor and MEN1 Mosaicism

通过 ctDNA 测序对转移性胸腺肿瘤和 MEN1 嵌合体患者进行早期复发检测

Arnaud Lagarde, Lauriane Le Collen, Camille Boulagnon, Hedia Brixi, Anne Durlach, Grégory Mougel, Thomas Cuny, Brigitte Delemer, Anne Barlier, Pauline Romanet

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

Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms

利用数字NGS技术进行系统性嵌合体检测,发现了三种新的MEN1嵌合体。

Lagarde, Arnaud; Mougel, Grégory; Coppin, Lucie; Haissaguerre, Magalie; Le Collen, Lauriane; Mohamed, Amira; Klein, Marc; Odou, Marie-Françoise; Tabarin, Antoine; Brixi, Hedia; Cuny, Thomas; Delemer, Brigitte; Barlier, Anne; Romanet, Pauline