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

Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review

神经纤维瘤病-努南综合征：一项前瞻性单中心研究（纳入26例患者）及文献综述

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03706-3
Bessis, Didier; Vidaud, Dominique; Meyer, Pierre; Pacot, Laurence; G, de La Villeon; Bonnard, Adeline Alice; Capri, Yline; Coubes, Christine; Herman, Fanchon; Lacombe, Didier; Molinari, Nicolas; Poujade, Laura; Roubertie, Agathe; Van Gils, Julien; Verloes, Alain; Geneviève, David; Cavé, Hélène; Willems, Marjolaine
发表日期：2025
文献求助 收藏

Safety and Effectiveness of Oral Glyburide Suspension in Neonatal Diabetes Mellitus: French Retrospective Cohort Study

口服格列本脲混悬液治疗新生儿糖尿病的安全性和有效性：法国回顾性队列研究

期刊:Journal of the Endocrine Society
影响因子:3.1
doi:10.1210/jendso/bvaf083
Ben Rhaiem, Ines; Beltrand, Jacques; Vermillac, Gaëlle; Kariyawasam, Dulanjalee; Geraud, Delphine; Besançon, Alix; Godot, Cécile; Berdugo, Marianne; Bonnard, Adeline Alice; Cavé, Hélène; Nivot-Adamiak, Sylvie; Saade, Marie Béatrice; Ribault, Virginie; Baron, Sabine; Petit-Bibal, Cécile; Dalla-Vale, Fabienne; Bourdet, Karine; Morin, Carole; Donzeau, Aurélie; Gueorguieva, Iva; Souchon, Pierre-François; Nicolino, Marc; Barat, Pascal; Coutant, Régis; Perge, Kevin; Polak, Michel
糖尿病
代谢
发表日期：2025
文献求助 收藏

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

ERF基因功能缺失变异与伴或不伴颅缝早闭的努南综合征样表型相关

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01642-7
Dentici, Maria Lisa; Niceta, Marcello; Lepri, Francesca Romana; Mancini, Cecilia; Priolo, Manuela; Bonnard, Adeline Alice; Cappelletti, Camilla; Leoni, Chiara; Ciolfi, Andrea; Pizzi, Simone; Cordeddu, Viviana; Rossi, Cesare; Ferilli, Marco; Mucciolo, Mafalda; Colona, Vito Luigi; Fauth, Christine; Bellini, Melissa; Biasucci, Giacomo; Sinibaldi, Lorenzo; Briuglia, Silvana; Gazzin, Andrea; Carli, Diana; Memo, Luigi; Trevisson, Eva; Schiavariello, Concetta; Luca, Maria; Novelli, Antonio; Michot, Caroline; Sweertvaegher, Anne; Germanaud, David; Scarano, Emanuela; De Luca, Alessandro; Zampino, Giuseppe; Zenker, Martin; Mussa, Alessandro; Dallapiccola, Bruno; Cavé, Helene; Digilio, Maria Cristina; Tartaglia, Marco
ERF
发表日期：2024
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Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant

对极早产儿早期使用口服格列本脲治疗新生儿糖尿病

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12358
Galderisi, Alfonso; Kermorvant-Duchemin, Elsa; Daruich, Alejandra; Bonnard, Adeline Alice; Lapillonne, Alexandre; Aubelle, Marie-Stéphanie; Perrella, Bruna; Vial, Yoann; Cave, Héléne; Berdugo, Marianne; Jarreau, Pierre-Henri; Polak, Michel; Beltrand, Jacques
糖尿病
代谢
发表日期：2023
文献求助 收藏

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

SPRED2 功能丧失导致隐性 Noonan 综合征样表型

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.09.007
Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard, Pelin Ozlem Simsek-Kiper, Elif Yilmaz Gulec, Leila Essaddam, Gulen Eda Utine, Ingrid Guarnetti Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica
信号转导
发表日期：2021
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