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

Pediatric high-grade gliomas with concomitant RB1 and SETD2 alterations and Li-Fraumeni syndrome

伴有RB1和SETD2基因改变以及李-弗劳梅尼综合征的儿童高级别胶质瘤

Tauziède-Espariat, Arnault; Simbozel, Marie; Sievers, Philipp; Dangouloff-Ros, Volodia; Guida, Lelio; Blauwblomme, Thomas; Beccaria, Kévin; Saffroy, Raphael; Hasty, Lauren; Métais, Alice; Grill, Jacques; Guerrini-Rousseau, Léa; Varlet, Pascale

Diffuse leptomeningeal glioneuronal tumour: molecular diagnosis, evolution and treatment

弥漫性软脑膜神经胶质瘤:分子诊断、演变和治疗

Campanelli, Anastasia; Métais, Alice; Bouchoucha, Yassine; Beccaria, Kevin; Laprie, Anne; Blauwblomme, Thomas; Guida, Lelio; Benichi, Sandro; Dufour, Christelle; Guerrini-Rousseau, Lea; Simbozel, Marie; Tauziede-Espariat, Arnault; Varlet, Pascale; Sellami, Noura; Bolle, Stephanie; Martin, Valentine; Boddaert, Nathalie; Appay, Romain; Dangouloff-Ros, Volodia; Khouri, Céline; Bourdeaut, Franck; Doz, François; Grill, Jacques; Abbou, Samuel

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

A malignant choroid plexus tumor with heterologous differentiation and BAP1 deletion suggesting choroid plexus blastoma

具有异源分化和BAP1缺失的恶性脉络丛肿瘤提示为脉络丛母细胞瘤

Tauziède-Espariat, Arnault; Métais, Alice; Guerrini-Rousseau, Léa; Sassi, Farah; Hasty, Lauren; Saffroy, Raphaël; Dangouloff-Ros, Volodia; Beccaria, Kévin; Servant, Euphrasie; Varlet, Pascale

Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors

SMARCB1变异的合子后嵌合现象在横纹肌样瘤患者中的表现:一种并非罕见的、易导致肿瘤连续发生的疾病

Thomson, Grégory; Filser, Mathilde; Guerrini-Rousseau, Léa; Tauziede-Espariat, Arnault; Bourneix, Christine; Gauthier-Villars, Marion; Simaga, Fatoumata; Beccaria, Kévin; Faure-Conter, Cécile; Maureille, Aurélien; Zattara-Cannoni, Hélène; Andre, Nicolas; Entz-Werle, Natacha; Brugieres, Laurence; Mansuy, Ludovic; Denizeau, Philippe; Julia, Sophie; Ingster, Olivier; Lejeune, Sophie; Brahimi, Afane; Coupier, Isabelle; Bonadona, Valérie; Delattre, Olivier; Masliah-Planchon, Julien; Bourdeaut, Franck

ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management

ERN GENTURIS关于先天性错配修复缺陷的诊断、遗传咨询、监测、生活质量和临床管理的指南

Colas, Chrystelle; Guerrini-Rousseau, Léa; Suerink, Manon; Gallon, Richard; Kratz, Christian P; Ayuso, Éloïse; Brugières, Laurence; Wimmer, Katharina

Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients

基因组学在儿科诊疗路径中引发的心理和伦理问题:一项针对家长和儿童癌症患者的定性分析

Droin-Mollard, Marion; de Montgolfier, Sandrine; Gimenez-Roqueplo, Anne-Paule; Flahault, Cécile; Petit, Arnaud; Bourdeaut, Franck; Julia, Sophie; Rial-Sebbag, Emmanuelle; Coupier, Isabelle; Simaga, Fatoumata; Brugières, Laurence; Guerrini-Rousseau, Léa; Claret, Béatrice; Cavé, Hélène; Strullu, Marion; Hervouet, Lucile; Lahlou-Laforêt, Khadija

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

Glioma oncogenesis in the Constitutional mismatch repair deficiency (CMMRD) syndrome

先天性错配修复缺陷(CMMRD)综合征中的胶质瘤发生

Guerrini-Rousseau, Lea; Merlevede, Jane; Denizeau, Philippe; Andreiuolo, Felipe; Varlet, Pascale; Puget, Stéphanie; Beccaria, Kevin; Blauwblomme, Thomas; Cabaret, Odile; Hamzaoui, Nadim; Bourdeaut, Franck; Faure-Conter, Cécile; Muleris, Martine; Colas, Chrystelle; Adam de Beaumais, Tiphaine; Castel, David; Rouleau, Etienne; Brugières, Laurence; Grill, Jacques; Debily, Marie-Anne

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