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

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants

神经纤维瘤病1型患者NF1点变异的精细基因型-表型相关性

Pacot, Laurence; Blok, Marinus; Vidaud, Dominique; Fertitta, Laura; Laurendeau, Ingrid; Coustier, Audrey; Maillard, Theodora; Barbance, Cécile; Hadjadj, Djihad; Ye, Manuela; Lallemand, Dominique; Ferkal, Salah; Funalot, Benoit; Lunati-Rozie, Ariane; Hebrard, Bérénice; Bhouri, Rakia; Spruijt, Liesbeth; Bessis, Didier; Geneviève, David; Vernimmen, Vivian; Broen, Martinus P G; Sigaudy, Sabine; Odent, Sylvie; Damaj, Léna; Quélin, Chloé; Pasquier, Laurent; Layet, Valérie; Gilbert-Dussardier, Brigitte; Nicolas, Gaël; Guerrot, Anne-Marie; Leheup, Bruno; Bursztejn, Anne-Claire; Petit, Florence; Boute-Bénéjean, Odile; Capri, Yline; Guimier, Anne; Lyonnet, Stanislas; Baujat, Genevieve; Bourrat, Emmanuelle; Isidor, Bertrand; Nizon, Mathilde; Barbarot, Sébastien; Toutain, Annick; Blesson, Sophie; Van-Gils, Julien; Morice-Picard, Fanny; Audebert-Bellanger, Séverine; Mazereeuw-Hautier, Juliette; Ziegler, Alban; Alembik, Yves; Piard, Juliette; Brischoux-Boucher, Elise; Guerrini-Rousseau, Léa; Morera, Julia; Paquis-Flucklinger, Véronique; Delobel, Bruno; Alessandri, Jean-Luc; Parfait, Béatrice; Wolkenstein, Pierre; Pasmant, Eric

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

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

MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells

MEK-SHP2抑制剂可预防由雪旺细胞和骨骼干/祖细胞中NF1缺失引起的胫骨假关节形成。

Perrin, Simon; Protic, Sanela; Bretegnier, Vincent; Laurendeau, Ingrid; de Lageneste, Oriane Duchamp; Panara, Nicolas; Ruckebusch, Odile; Luka, Marine; Masson, Cécile; Maillard, Théodora; Coulpier, Fanny; Pannier, Stéphanie; Wicart, Philippe; Hadj-Rabia, Smail; Radomska, Katarzyna J; Zarhrate, Mohammed; Ménager, Mickael; Vidaud, Dominique; Topilko, Piotr; Parfait, Béatrice; Colnot, Céline

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

更正:罕见的I型干扰素免疫基因功能丧失预测变异与危及生命的COVID-19相关。

Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Tayoun, Ahmad Abou; Aiuti, Alessandro; Darazam, Ilad Alavi; Allende, Luis M; Alonso-Arias, Rebeca; Arias, Andrés Augusto; Aytekin, Gokhan; Bergman, Peter; Bondesan, Simone; Bryceson, Yenan T; Bustos, Ingrid G; Cabrera-Marante, Oscar; Carcel, Sheila; Carrera, Paola; Casari, Giorgio; Chaïbi, Khalil; Colobran, Roger; Condino-Neto, Antonio; Covill, Laura E; Delmonte, Ottavia M; Zein, Loubna El; Flores, Carlos; Gregersen, Peter K; Gut, Marta; Haerynck, Filomeen; Halwani, Rabih; Hancerli, Selda; Hammarström, Lennart; Hatipoğlu, Nevin; Karbuz, Adem; Keles, Sevgi; Kyheng, Christèle; Leon-Lopez, Rafael; Franco, Jose Luis; Mansouri, Davood; Martinez-Picado, Javier; Akcan, Ozge Metin; Migeotte, Isabelle; Morange, Pierre-Emmanuel; Morelle, Guillaume; Martin-Nalda, Andrea; Novelli, Giuseppe; Novelli, Antonio; Ozcelik, Tayfun; Palabiyik, Figen; Pan-Hammarström, Qiang; de Diego, Rebeca Pérez; Planas-Serra, Laura; Pleguezuelo, Daniel E; Prando, Carolina; Pujol, Aurora; Reyes, Luis Felipe; Rivière, Jacques G; Rodriguez-Gallego, Carlos; Rojas, Julian; Rovere-Querini, Patrizia; Schlüter, Agatha; Shahrooei, Mohammad; Sobh, Ali; Soler-Palacin, Pere; Tandjaoui-Lambiotte, Yacine; Tipu, Imran; Tresoldi, Cristina; Troya, Jesus; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Al-Muhsen, Saleh Zaid; Alosaimi, Mohammed Faraj; Alsohime, Fahad M; Baris-Feldman, Hagit; Butte, Manish J; Constantinescu, Stefan N; Cooper, Megan A; Dalgard, Clifton L; Fellay, Jacques; Heath, James R; Lau, Yu-Lung; Lifton, Richard P; Maniatis, Tom; Mogensen, Trine H; von Bernuth, Horst; Lermine, Alban; Vidaud, Michel; Boland, Anne; Deleuze, Jean-François; Nussbaum, Robert; Kahn-Kirby, Amanda; Mentre, France; Tubiana, Sarah; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Meyts, Isabelle; Zhang, Shen-Ying; Puel, Anne; Notarangelo, Luigi D; Boisson-Dupuis, Stephanie; Su, Helen C; Boisson, Bertrand; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Zhang, Qian; Abel, Laurent; Cobat, Aurélie

Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics

型神经纤维瘤病的产前诊断和生殖系嵌合体的陷阱

Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Theodora Maillard, Cécile Barbance, Ingrid Laurendeau, Bérénice Hébrard, Ariane Lunati-Rozie, Benoît Funalot, Pierre Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice-Picard, Djihad Hadjadj, Béatrice Parfait, 

Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency

先天性错配修复缺陷患者的1型神经纤维瘤病嵌合现象

Guerrini-Rousseau, Léa; Pasmant, Eric; Muleris, Martine; Abbou, Samuel; Adam-De-Beaumais, Tiphaine; Brugieres, Laurence; Cabaret, Odile; Colas, Chrystelle; Cotteret, Sophie; Decq, Philippe; Dufour, Christelle; Guillerm, Erell; Rouleau, Etienne; Varlet, Pascale; Zili, Saïma; Vidaud, Dominique; Grill, Jacques

Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

关于NF1基因内倒位作为1型神经纤维瘤病致病机制的评论

Pacot, Laurence; Chansavang, Albain; Jacques, Sébastien; Laurendeau, Ingrid; Hadjadj, Djihad; Ferkal, Salah; Wolkenstein, Pierre; Vidaud, Dominique; Pasmant, Eric

Prevalence of Endocrine Manifestations and GIST in 108 Systematically Screened Patients With Neurofibromatosis Type 1

108例经系统筛查的1型神经纤维瘤病患者中内分泌表现和胃肠道间质瘤的患病率

Dupuis, Hippolyte; Chevalier, Benjamin; Cardot-Bauters, Catherine; Jannin, Arnaud; Do Cao, Christine; Ladsous, Miriam; Cortet, Christine; Merlen, Emilie; Drouard, Magali; Aubert, Sébastien; Vidaud, Dominique; Espiard, Stéphanie; Vantyghem, Marie-Christine

A Simple Fluorescence Affinity Assay to Decipher Uranyl-Binding to Native Proteins

一种用于解析天然蛋白质与铀酰结合的简易荧光亲和力测定法

Laporte, Fanny; Chenavier, Yves; Botz, Alexandra; Gateau, Christelle; Lebrun, Colette; Hostachy, Sarah; Vidaud, Claude; Delangle, Pascale

HGG-40. NF1 mosaicism in a CMMRD-patient with a glioblastoma

HGG-40。CMMRD 患者胶质母细胞瘤中的 NF1 嵌合体

Dechow, Tobias N; Pedranzini, Laura; Leitch, Andrea; Leslie, Kenneth; Gerald, William L; Linkov, Irina; Bromberg, Jacqueline F; Guerrini-Rousseau, Lea; Cabaret, Odile; Muleris, Martine; Vidaud, Dominique; Cotteret, Sophie; Rouleau, Etienne; de Beaumais, Tiphaine Adam; Varlet, Pascale; Morscher, Raphael; Abbou, Samuel; Dufour, Christelle; Brugieres, Laurence; Grill, Jacques