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

Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme

在携带两个 CFTR I 类变异的囊性纤维化患者中使用 Elexacaftor-tezacaftor-ivacaftor:来自法国同情用药计划的真实世界数据

Burgel, Pierre-Régis; Girodon, Emmanuelle; Sharma, Neeraj; Raynal, Caroline; Da Silva, Jennifer; Sasorith, Souphatta; Martin, Clémence; Sermet-Gaudelus, Isabelle; Raraigh, Karen

Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR

Trikafta 之外:评估 N1303K-CFTR 组织依赖性拯救的新模型

Pranke, Iwona; Capurro, Valeria; Chevalier, Benoit; Pesce, Emanuela; Tomati, Valeria; Pastorino, Cristina; Kelly-Aubert, Mairead; Hatton, Aurelie; Dreano, Elise; Lena, Mariateresa; Bocciardi, Renata; Zara, Federico; Pantano, Stefano; Terlizzi, Vito; Lucanto, Cristina; Costa, Stefano; Claut, Laura; Daccò, Valeria; Poli, Piercarlo; Maschio, Massimo; Fabrizzi, Benedetta; Caporelli, Nicole; Cipolli, Marco; Volpi, Sonia; Chedevergne, Frederique; Cosson, Laure; Macey, Julie; Ramel, Sophie; Weiss, Laurence; Grenet, Dominique; Le Clainche-Viala, Laurence; Douvry, Benoit; Ravoninjatovo, Bruno; Audousset, Camille; Tatopoulos, Aurélie; Richaud-Thiriez, Bénédicte; Baravalle, Melissa; Thouvenin, Guillaume; Labbé, Guillaume; Mittaine, Marie; Reix, Philippe; Durieu, Isabelle; Mankikian, Julie; Bui, Stéphanie; Nguyen-Khoa, Thao; Khoukh, Karim; Martin, Clémence; Da Silva, Jennifer; De Carli, Paola; Castellani, Carlo; Cresta, Federico; Galietta, Luis; Guillemaut, Anne; Girodon, Emmanuelle; Remus, Natacha; Bulcaen, Mathis; Ensinck, Marjolein; Zajac, Miroslaw; Carlon, Marianne; LeBihan, Jean; Burgel, Pierre-Régis; Sermet-Gaudelus, Isabelle; Hinzpeter, Alexandre; Pedemonte, Nicoletta

Putting bicarbonate on the spot: pharmacological insights for CFTR correction in the airway epithelium

碳酸氢盐直达病灶:气道上皮中CFTR校正的药理学见解

Zajac, Miroslaw; Lepissier, Agathe; Dréano, Elise; Chevalier, Benoit; Hatton, Aurélie; Kelly-Aubert, Mairead; Guidone, Daniela; Planelles, Gabrielle; Edelman, Aleksander; Girodon, Emmanuelle; Hinzpeter, Alexandre; Crambert, Gilles; Pranke, Iwona; Galietta, Luis J V; Sermet-Gaudelus, Isabelle

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

SPiP:剪接预测流程,一种用于大规模检测外显子和内含子变异对mRNA剪接影响的机器学习工具

Leman, Raphaël; Parfait, Béatrice; Vidaud, Dominique; Girodon, Emmanuelle; Pacot, Laurence; Le Gac, Gérald; Ka, Chandran; Ferec, Claude; Fichou, Yann; Quesnelle, Céline; Aucouturier, Camille; Muller, Etienne; Vaur, Dominique; Castera, Laurent; Boulouard, Flavie; Ricou, Agathe; Tubeuf, Hélène; Soukarieh, Omar; Gaildrat, Pascaline; Riant, Florence; Guillaud-Bataille, Marine; Caputo, Sandrine M; Caux-Moncoutier, Virginie; Boutry-Kryza, Nadia; Bonnet-Dorion, Françoise; Schultz, Ines; Rossing, Maria; Quenez, Olivier; Goldenberg, Louis; Harter, Valentin; Parsons, Michael T; Spurdle, Amanda B; Frébourg, Thierry; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie

The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

CFTR基因扩展测序在新生儿囊性纤维化筛查中的作用

Bergougnoux, Anne; Lopez, Maureen; Girodon, Emmanuelle

Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data

提高囊性纤维化临床实验室报告的解读水平:外部质量评估数据的纵向分析

Berwouts, Sarah; Girodon, Emmanuelle; Schwarz, Martin; Stuhrmann, Manfred; Morris, Michael A; Dequeker, Elisabeth

A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl

一名12岁女孩因罕见的CFTR基因内含子突变而患上轻度囊性纤维化。

Nathan, Nadia; Girodon, Emmanuelle; Clement, Annick; Corvol, Harriet

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

一项大型合作研究的结果表明,p.Ser1235Arg不应再被视为囊性纤维化突变。

René, Céline; Paulet, Damien; Girodon, Emmanuelle; Costa, Catherine; Lalau, Guy; Leclerc, Julie; Cabet-Bey, Faïza; Bienvenu, Thierry; Blayau, Martine; Iron, Albert; Mittre, Hervé; Feldmann, Delphine; Guittard, Caroline; Claustres, Mireille; Georges, Marie des

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

CFTR基因大片段重排对伴有肠道畸形的胎儿囊性纤维化诊断具有显著贡献

de Becdelièvre, Alix; Costa, Catherine; LeFloch, Annick; Legendre, Marie; Jouannic, Jean-Marie; Vigneron, Jacqueline; Bresson, Jean-Luc; Gobin, Stéphanie; Martin, Josiane; Goossens, Michel; Girodon, Emmanuelle

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

NAGNAG 受体位点的选择性剪接作为新型表型修饰剂

Hinzpeter Alexandre, Aissat Abdel, Sondo Elvira, Costa Catherine, Arous Nicole, Gameiro Christine, Martin Natacha, Tarze Agathe, Weiss Laurence, de Becdelièvre Alix, Costes Bruno, Goossens Michel, Galietta Luis J, Girodon Emmanuelle, Fanen Pascale