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

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing

通过全外显子组和全基因组测序扩展先天性中性粒细胞减少症的表型和遗传图谱

Marti, Séverine; Pellet, Philippe; Beaupain, Blandine; Durix, Léa; Buratti, Julien; Réguerre, Yves; Aladjidi, Nathalie; Azarnoush, Saba; Clauin, Severine; Chahla, Wahid Abou; Blaison, Gilles; Bertand, Jeremy; Bodet, Damien; Brethon, Benoit; Chane-Teng, Jessica; Delafoy, Manon; Dupraz, Chrystelle; Gandemer, Virginie; Denizeau, Philippe; Goldenberg, Alice; Hirsch, Pierre; l'Haridon, Anaïs; Marie-Cardine, Aude; Vera, Gabriella; Nelken, Brigitte; Nizery, Laure; Nolla, Marie; Pasquet, Marlène; Rosain, Jérémie; Terriou, Louis; Plo, Isabelle; Donadieu, Jean; Bellanné-Chantelot, Christine

Oncogenomic profiling in infant-toddler T-ALL identifies NKX2 family genes as drivers linked to favorable outcomes

婴幼儿T细胞急性淋巴细胞白血病(T-ALL)的肿瘤基因组分析发现,NKX2家族基因是与良好预后相关的驱动因素。

Delafoy, Manon; Balducci, Estelle; Simonin, Mathieu; Pinton, Antoine; Charbonnier, Guillaume; Courtois, Lucien; Lhermitte, Ludovic; Gillet, Camille; Féroul, Mélanie; Touzart, Aurore; Cieslak, Agata; Smith, Charlotte; Courgeon, Marianne; Wiber, Margaux; Mercher, Thomas; Latour, Sylvain; Arnoux, Isabelle; Saultier, Paul; Rohrlich, Pierre-Simon; Bodet, Damien; Grardel, Nathalie; Lubnau, Marion; Pellier, Isabelle; Thouvenin, Sandrine; Garnier, Nathalie; Pastoret, Cédric; Brethon, Benoit; Petit, Arnaud; Macintyre, Elizabeth; Baruchel, André; Asnafi, Vahid

Nanopore sequencing as a cutting-edge technology for medulloblastoma classification.

纳米孔测序作为髓母细胞瘤分类的前沿技术

Filser Mathilde, Torrejon Jacob, Merchadou Kevin, Dufour Christelle, Girard Elodie, Bourneix Christine, Lemaître Elisa, Gharsalli Tarek, Brillet Riwan, Wong Jennifer, Gentien David, Rapinat Audrey, Servant Nicolas, Vasiljevic Alexandre, Bertozzi Anne Isabelle, Raimbault Sandra, Tauziede Espariat Arnault, Lhermitte Benoit, Faure-Conter Cécile, Icher Céline, Berger Claire, Maurage Claude Alain, Bodet Damien, Meyronet David, Uro-Coste Emmanuelle, De Carli Emilie, Forest Fabien, Palenzuela Gilles, Chotard Guillaume, Gauchotte Guillaume, Sudour Helene, Mansuy Ludovic, Deparis Marianna, Tallegas Matthias, Faisant Maxime, Entz-Werle Natacha, Varlet Pascale, Leblond Pierre, Michalak-Provost Sophie, Proust Houdemont Stéphanie, Rigau Valérie, Doz François, Delattre Olivier, Bourdeaut Franck, Ayrault Olivier, Masliah-Planchon Julien

Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window

髓母细胞瘤伴ELP1致病变异:一种低外显率综合征,其发病年龄范围有限。

Guerrini-Rousseau, Léa; Masliah-Planchon, Julien; Filser, Mathilde; Tauziède-Espariat, Arnault; Entz-Werle, Natacha; Maugard, Christine M; Hopman, Saskia M J; Torrejon, Jacob; Gauthier-Villars, Marion; Simaga, Fatoumata; Blauwblomme, Thomas; Beccaria, Kevin; Rouleau, Etienne; Dimaria, Marina; Grill, Jacques; Abbou, Samuel; Claret, Béatrice; Brugières, Laurence; Doz, François; Bouchoucha, Yassine; Faure-Conter, Cécile; Bonadona, Valerie; Mansuy, Ludovic; de Carli, Emilie; Ingster, Olivier; Legrand, Clémentine; Pagnier, Anne; Berthet, Pascaline; Bodet, Damien; Julia, Sophie; Bertozzi, Anne-Isabelle; Wilems, Marjolaine; Maurage, Claude-Alain; Delattre, Olivier; Ayrault, Olivier; Dufour, Christelle; Bourdeaut, Franck

Case report: Musculoskeletal metastastic inflammatory myofibroblastic tumor (IMT) treated by sequential ALK-TKI with longterm response

病例报告:采用序贯ALK-TKI治疗后获得长期疗效的肌肉骨骼转移性炎性肌纤维母细胞瘤(IMT)

Cochin, Thomas; Noal, Sabine; Stefan, Dinu; Bodet, Damien; Rouger, Jérémie; Dorbeau, Marine; Neviere, Zoé

MDB-12. NANOPORE SEQUENCING AS A CUTTING-EDGE TECHNOLOGY FOR MEDULLOBLASTOMA CLASSIFICATION

MDB-12.纳米孔测序作为髓母细胞瘤分类的前沿技术

Zhou, Xiaoyu; Zhang, Jianli; Xu, Liwei; Jin, Aiyun; Filser, Mathilde; Torrejon, Jacob; Merchadou, Kevin; Girard, Elodie; Bourneix, Christine; Lemaître, Elisa; Brillet, Riwan; Wong, Jennifer; Gentien, David; Rapinat, Audrey; Servant, Nicolas; Vasiljevic, Alexandre; Bertozzi, Anne-Isabelle; Raimbault, Sandra; Tauziède-Espariat, Arnault; Lhermitte, Benoit; Faure-Conter, Cécile; Icher, Céline; Berger, Claire; Maurage, Claude-Alain; Bodet, Damien; Meyronet, David; Uro-Coste, Emmanuelle; De Carli, Emilie; Forest, Fabien; Palenzuela, Gilles; Chotard, Guillaume; Gauchotte, Guillaume; Sudour, Hélène; Mansuy, Ludovic; Deparis, Mariana; Machet, Marie-Christine; Faisant, Maxime; Entz-Werle, Natacha; Varlet, Pascale; Leblond, Pierre; Michalak-Provost, Sophie; Houdemont, Stéphanie Proust; Rigau, Valérie; Doz, François; Bourdeaut, Franck; Delattre, Olivier; Ayrault, Olivier; Masliah-Planchon, Julien

Measuring Safety and Outcomes for the Use of Compassionate and Off-Label Therapies for Children, Adolescents, and Young Adults With Cancer in the SACHA-France Study

在SACHA-France研究中评估对患有癌症的儿童、青少年和年轻成人使用同情用药和非适应症用药的安全性和疗效

Berlanga, Pablo; Ndounga-Diakou, Lee Aymar; Aerts, Isabelle; Corradini, Nadège; Ducassou, Stéphane; Strullu, Marion; de Carli, Emilie; André, Nicolas; Entz-Werle, Natacha; Raimbault, Sandra; Roumy, Marianne; Renouard, Marjolaine; Gueguen, Gwenaelle; Plantaz, Dominique; Reguerre, Yves; Cleirec, Morgane; Petit, Arnaud; Puiseux, Chloe; Andry, Leslie; Klein, Sébastien; Bodet, Damien; Kanold, Justyna; Briandet, Claire; Halfon-Domenech, Carine; Nelken, Brigitte; Piguet, Christophe; Saumet, Laure; Chastagner, Pascal; Benadiba, Joy; Millot, Frédéric; Pluchart, Claire; Schneider, Pascale; Thouvenin, Sandrine; Gambart, Marion; Serre, Jill; Abbou, Samuel; Leruste, Amaury; Cayzac, Hélena; Gandemer, Virginie; Laghouati, Salim; Vassal, Gilles

Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE)

儿童和青少年嗜铬细胞瘤和副神经节瘤:法国儿科肿瘤学会 (SFCE) 的经验

de Tersant, Marie; Généré, Lucile; Freyçon, Claire; Villebasse, Sophie; Abbas, Rachid; Barlier, Anne; Bodet, Damien; Corradini, Nadège; Defachelles, Anne-Sophie; Entz-Werle, Natacha; Fouquet, Cyrielle; Galmiche, Louise; Gandemer, Virginie; Lacour, Brigitte; Mansuy, Ludovic; Orbach, Daniel; Pluchart, Claire; Réguerre, Yves; Rigaud, Charlotte; Sarnacki, Sabine; Sirvent, Nicolas; Stephan, Jean-Louis; Thebaud, Estelle; Gimenez-Roqueplo, Anne-Paule; Brugières, Laurence

Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor

深部内含子热点变异解释了两例非典型畸胎瘤和横纹肌样瘤患者的横纹肌样瘤易感综合征

Tauziède-Espariat, Arnault; Masliah-Planchon, Julien; Brugières, Laurence; Puget, Stéphanie; Dufour, Christelle; Schneider, Pascale; Laquerrière, Annie; Frebourg, Thierry; Bodet, Damien; Lechapt-Zalcman, Emmanuèle; Pierron, Gaëlle; Delattre, Olivier; Varlet, Pascale; Bourdeaut, Franck

Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort

儿童埃文斯综合征:一项前瞻性法国国家观察队列研究的长期预后

Aladjidi, Nathalie; Fernandes, Helder; Leblanc, Thierry; Vareliette, Amélie; Rieux-Laucat, Frédéric; Bertrand, Yves; Chambost, Hervé; Pasquet, Marlène; Mazingue, Françoise; Guitton, Corinne; Pellier, Isabelle; Roqueplan-Bellmann, Françoise; Armari-Alla, Corinne; Thomas, Caroline; Marie-Cardine, Aude; Lejars, Odile; Fouyssac, Fanny; Bayart, Sophie; Lutz, Patrick; Piguet, Christophe; Jeziorski, Eric; Rohrlich, Pierre; Lemoine, Philippe; Bodet, Damien; Paillard, Catherine; Couillault, Gérard; Millot, Frédéric; Fischer, Alain; Pérel, Yves; Leverger, Guy