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

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

类似于林奇综合征的体质性错配修复缺陷与次等位基因错配修复基因变异有关

期刊:npj Precision Oncology
影响因子:6.8
doi:10.1038/s41698-024-00603-z
Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula, Albert Amberger, Martine Muleris, Chrystelle Colas, Jeroen Dekervel, Gert De Hertogh, Jérôme Coupier, Orphal Colleye, Edith Sepulchre, John Burn, Hilde Brems, Eric Legius, Katharina Wimmer
信号转导
ELISA
发表日期：2024
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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

期刊:NeuroOncology Advances
影响因子:4.1
doi:10.1093/noajnl/vdae120
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
胶质瘤
多发性骨髓瘤
发表日期：2024
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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

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109235
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
发表日期：2024
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Case report: Microsatellite instability determination is not always black and white in Lynch syndrome diagnosis

病例报告：林奇综合征诊断中微卫星不稳定性检测并非总是非黑即白。

期刊:Frontiers in Oncology
影响因子:3.3
doi:10.3389/fonc.2024.1396869
Rodriguez, Julieta E; Vasseur, Damien; Bani, Mohamed Amine; Cabaret, Odile; Cotteret, Sophie; Muleris, Martine; Golbarg, Veronica; Malka, David; Pudlarz, Thomas; Caron, Olivier; Smolenschi, Cristina
发表日期：2024
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Lynch syndrome: influence of additional susceptibility variants on cancer risk

林奇综合征：其他易感变异对癌症风险的影响

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01367-z
Vibert, Roseline; Hasnaoui, Jasmine; Perrier, Alexandre; Lefebvre, Alexandra; Colas, Chrystelle; Dhooge, Marion; Basset, Noémie; Chansavang, Albain; Desseignes, Camille; Duval, Alex; Farelly, Solenne; Hamzaoui, Nadim; Laurent-Puig, Pierre; Metras, Julie; Moliere, Diane; Muleris, Martine; Netter, Jeanne; Touat, Mehdi; Bielle, Franck; Labreche, Karim; Nicolle, Romain; Perkins, Géraldine; Warcoin, Mathilde; Coulet, Florence; Benusiglio, Patrick R
肿瘤
肿瘤免疫
发表日期：2023
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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

期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.0404100101
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
细胞生物学
NF1
多发性骨髓瘤
发表日期：2022
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EPCO-03. GLIOMA ONCOGENESIS IN THE CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY (CMMRD) SYNDROME

EPCO-03. 先天性错配修复缺陷（CMMRD）综合征中的神经胶质瘤发生

期刊:World Journal of Clinical Oncology
影响因子:3.2
doi:10.5306/wjco.v5.i5.806
Chung, Byung Min; Tom, Eric; Zutshi, Neha; Bielecki, Timothy Alan; Band, Vimla; Band, Hamid; Guerrini-Rousseau, Léa; 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; de Beaumais, Tiphaine Adam; Castel, David; Rouleau, Etienne; Brugières, Laurence; Grill, Jacques; Debily, Marie-Anne
胶质瘤
神经科学
多发性骨髓瘤
发表日期：2021
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Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019

欧洲“关爱慢性骨髓炎和多发性骨髓瘤病”（C4CMMRD）联盟第五次会议报告，荷兰莱顿，2019年7月6日

期刊:Familial Cancer
影响因子:2
doi:10.1007/s10689-020-00194-1
Suerink, M; Wimmer, K; Brugieres, L; Colas, C; Gallon, R; Ripperger, T; Benusiglio, P R; Bleiker, E M A; Ghorbanoghli, Z; Goldberg, Y; Hardwick, J C H; Kloor, M; le Mentec, M; Muleris, M; Pineda, M; Ruiz-Ponte, C; Vasen, H F A
多发性骨髓瘤
骨髓炎
骨髓瘤
发表日期：2021
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Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

早期结直肠癌为林奇综合征到CMMRD表型连续谱提供了新的证据

期刊:Cancers
影响因子:4.4
doi:10.3390/cancers11081081
Fernandez-Rozadilla, Ceres; Alvarez-Barona, Miriam; Schamschula, Esther; Bodo, Sahra; Lopez-Novo, Anael; Dacal, Andres; Calviño-Costas, Consuelo; Lancho, Angel; Amigo, Jorge; Bello, Xabier; Cameselle-Teijeiro, Jose Manuel; Carracedo, Angel; Colas, Chrystelle; Muleris, Martine; Wimmer, Katharina; Ruiz-Ponte, Clara
肿瘤
肠癌
肿瘤免疫
多发性骨髓瘤
发表日期：2019
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Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6

一名患有早发性促纤维增生性髓母细胞瘤且携带 MSH2 和 MSH6 纯合变异的儿童面临的诊断挑战

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-017-0071-5
Taeubner, Julia; Wimmer, Katharina; Muleris, Martine; Lascols, Olivier; Colas, Chrystelle; Fauth, Christine; Brozou, Triantafyllia; Felsberg, Joerg; Riemer, Jasmin; Gombert, Michael; Ginzel, Sebastian; Hoell, Jessica I; Borkhardt, Arndt; Kuhlen, Michaela
MSH2
细胞生物学
MSH6
多发性硬化症
发表日期：2018
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