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

Genetic analysis and clinical phenotype of pulmonary arterial hypertension in an Algerian population

阿尔及利亚人群肺动脉高压的基因分析和临床表型

Berkane, Amel Wafa; Yahiaoui, Rachida; Methia, Nadéra; Djami-Temim, Nassima; Coulet, Florence; Antigny, Fabrice; Montani, David; Hamouli-Said, Zohra

SOX17 in pulmonary arterial hypertension: from development to clinical phenotype

SOX17在肺动脉高压中的作用:从发育到临床表型

Lacoste-Palasset, Thomas; Aguado, Benoit; Grynblat, Julien; Coulet, Florence; Humbert, Marc; Antigny, Fabrice; Montani, David; Ruffenach, Grégoire

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories

解读与TP53致病变异相关的双重临床实体:来自法国实验室53085例HBOC基因检测的启示

Kasper, Edwige; Boulouard, Flavie; Basset, Noémie; Golmard, Lisa; Sassi, Hela; Bouvignies, Emilie; Branchaud, Maud; Charbonnier, Camille; Parodi, Nathalie; Rolain, Marion; Albuisson, Juliette; Al Saati, Ayman; Benusiglio, Patrick; Berthet, Pascaline; Bidart, Marie; Bonnet, Céline; Bouras, Ahmed; Boutry-Kryza, Nadia; Brayotel, Fanny; Bubien, Virginie; Buisson, Adrien; Castéra, Laurent; Caron, Olivier; Colas, Chrystelle; Coulet, Florence; Delnatte, Capucine; Derangère, Valentin; Fievet, Alice; Garrec, Céline; Gauthier-Villars, Marion; Gay-Bellile, Mathilde; Goussot, Vincent; le Gall, Jessica; Lepage, Mathis; Lokchine, Anna; Perrier, Alexandre; Rouleau, Etienne; Sevenet, Nicolas; Stoppa-Lyonnet, Dominique; Ravel, Jean-Marie; Perre, Pierre Vande; Vaur, Dominique; Vilquin, Paul; Bougeard, Gaëlle; Baert-Desurmont, Stéphanie; Thery, Jean-Christophe; Houdayer, Claude

Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype

根据表型分析早发性结直肠癌患者的致病性种系变异

Dardenne, Antoine; Dhooge, Marion; Basset, Noémie; Chansavang, Albain; Metras, Julie; Farelly, Solenne; Netter, Jeanne; Coulet, Florence; Benusiglio, Patrick R

Performance of the AmpliSeq NGS panel in thyroid nodules with indeterminate cytology

AmpliSeq NGS 检测板在细胞学结果不确定的甲状腺结节中的性能

Potonnier, Wiame; Guillerm, Erell; Bigorgne, Claude; Ghander, Cécile; Roy, Malanie; Coulet, Florence; Ansart, François; Menegaux, Fabrice; Leenhardt, Laurence; Brocheriou, Isabelle; Deniziaut, Gabrielle; Buffet, Camille

Prolonged response to osimertinib in three patients with refractory metastatic pancreatic adenocarcinomas with EGFR exon 19 deletion: a case report and literature review

奥希替尼治疗EGFR 19号外显子缺失的三例难治性转移性胰腺腺癌患者疗效持久:病例报告及文献复习

Vigié, Timothée; Perrier, Alexandre; Chanez, Brice; De Martino, Julien; Favre, Loëtitia; Coulet, Florence; Bachet, Jean-Baptiste; Guillerm, Erell; Mas, Léo

Implementing pulmonary arterial hypertension screening among TBX4 mutation carriers: a timely endeavour

对TBX4基因突变携带者进行肺动脉高压筛查:一项及时的举措

Montani, David; Grynblat, Julien; Coulet, Florence; Bonnet, Damien; Beurnier, Antoine; Humbert, Marc

Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar

ACMG/AMP指南在肺动脉高压BMPR2变异体临床分类中的应用解决了ClinVar数据库中致病性不明的变异体问题。

Eichstaedt, Christina A; Maldonado-Velez, Gabriel; Machado, Rajiv D; Gräf, Stefan; Dooijes, Dennis; Balachandar, Srimmitha; Coulet, Florence; Day, Kristina; Eyries, Melanie; Macaya, Daniela; Shaukat, Memoona; Southgate, Laura; Tenorio-Castano, Jair; Chung, Wendy K; Welch, Carrie L; Aldred, Micheala A

Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort

开发一种功能性检测方法,用于表征法国出血性遗传性毛细血管扩张症队列中的SMAD4变异体

Despas, Louane; Vialet, Lea; Tusseau, Maud; Azemard, Valentin; Beurier-Soulat, Lea; Al Tabosh, Tala; Auboiroux, Celine; Parrot, Antoine; Blivet, Sandra; Le Guillou Horn, Xavier Maximin; Lesca, Gaetan; Dufernez, Fabienne; Coulet, Florence; Richardot, Charlotte; Macias, Maria; Giraud, Sophie; Guilhem, Alexandre; Dupuis-Girod, Sophie; Bailly, Sabine; Desroches-Castan, Agnes

Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension

钴胺素C缺乏症:一种罕见但可治疗的肺动脉高压遗传病因

Grynblat, Julien; Coulet, Florence; Montani, David