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

TLX1 translocation variants and enhancer hijacking influence clinical outcome in T-cell acute lymphoblastic leukemia

TLX1易位变异和增强子劫持影响T细胞急性淋巴细胞白血病的临床结果

Balducci, Estelle; Steimlé, Thomas; Cieslak, Agata; Charbonnier, Guillaume; Pinton, Antoine; Simonin, Mathieu; Smith, Charlotte; Louis, Valentine; Féroul, Mélanie; Delafoy, Manon; Kaltenbach, Sophie; Bidet, Audrey; Grange, Béatrice; Rigollet, Lauren; Villarese, Patrick; Touzart, Aurore; Dombret, Hervé; Baruchel, André; Boissel, Nicolas; Asnafi, Vahid

PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect.

雪旺细胞中 PIK3CA 功能获得性突变通过非细胞自主效应导致严重的神经病变和有氧糖酵解

Venot Quitterie, Firpion Marina, Ladraa Sophia, Bayard Charles, Magassa Sato, Di Guardo Roberta, Fraissenon Antoine, Hoguin Clément, Protic Sanela, Morin Gabriel, Mayeux Franck, Gourdon Genevieve, Fraitag Sylvie, Balducci Estelle, Kaltenbach Sophie, Villarese Patrick, Asnafi Vahid, Viel Thomas, Autret Gwennhael, Tavitian Bertrand, Goudin Nicolas, Guibaud Laurent, Bolino Alessandra, Canaud Guillaume

Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition.

iSH2 结构域中的体细胞 PIK3R1 突变可被 PI3Kα 抑制剂治疗

Morin Gabriel, Garneau Alexandre P, Bouzakher Nabiha, Ségot Louise, Fraissenon Antoine, Blondel Amélie, Petit Florence, Chopinet Caroline, Mayeux Franck, Fayoux Pierre, Dompmartin Anne, Bodemer Christine, Balducci Estelle, Kaltenbach Sophie, Villarese Patrick, Asnafi Vahid, Legendre Christophe, Broissand Christine, Fraitag Sylvie, Quelin Chloé, Goudin Nicolas, Guibaud Laurent, Canaud Guillaume

First report of successful pregnancies after treatment with alpelisib for PIK3CA-related overgrowth spectrum

首例使用阿培利西布治疗PIK3CA相关过度生长谱系疾病后成功妊娠的报告

Morin, Gabriel; Fraissenon, Antoine; Chopinet, Caroline; Balducci, Estelle; Kaltenbach, Sophie; Villarese, Patrick; Asnafi, Vahid; Guibaud, Laurent; Canaud, Guillaume

Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformations

儿童脑脊髓海绵状血管畸形的临床和分子特征

Benichi, Sandro; Balducci, Estelle; Benzakoun, Joseph; Ghannam, Boulos; Attieh, Christian; Metais, Alice; Bourgeois, Marie; Guida, Lelio; Kaltenbach, Sophie; Tauziede-Espariat, Arnault; Riant, Florence; Villarese, Patrick; Lefevre, Coline; Roux, Charles-Joris; Puget, Stéphanie; Naggara, Olivier; Oppenheim, Catherine; Nabbout, Rima; Boddaert, Nathalie; Beccaria, Kévin; Tournier-Lasserve, Elisabeth; Kossorotoff, Manoëlle; Varlet, Pascale; Asnafi, Vahid; Canaud, Guillaume; Blauwblomme, Thomas

TREC mediated oncogenesis in human immature T lymphoid malignancies preferentially involves ZFP36L2

TREC介导的人类未成熟T淋巴细胞恶性肿瘤的致癌作用主要涉及ZFP36L2

Balducci, Estelle; Steimlé, Thomas; Smith, Charlotte; Villarese, Patrick; Feroul, Mélanie; Payet-Bornet, Dominique; Kaltenbach, Sophie; Couronné, Lucile; Lhermitte, Ludovic; Touzart, Aurore; Dourthe, Marie-Emilie; Simonin, Mathieu; Baruchel, André; Dombret, Hervé; Ifrah, Norbert; Boissel, Nicolas; Nadel, Bertrand; Macintyre, Elizabeth; Cieslak, Agata; Asnafi, Vahid

Optical genome mapping refines cytogenetic diagnostics, prognostic stratification and provides new molecular insights in adult MDS/AML patients

光学基因组图谱技术可改进细胞遗传学诊断和预后分层,并为成人MDS/AML患者提供新的分子见解。

Balducci, Estelle; Kaltenbach, Sophie; Villarese, Patrick; Duroyon, Eugénie; Zalmai, Loria; Friedrich, Chloé; Suarez, Felipe; Marcais, Ambroise; Bouscary, Didier; Decroocq, Justine; Birsen, Rudy; Fontenay, Michaëla; Templé, Marie; Brouzes, Chantal; Touzart, Aurore; Steimlé, Thomas; Cieslak, Agata; Lhermitte, Ludovic; Almire, Carole; Chapuis, Nicolas; Hermine, Olivier; Asnafi, Vahid; Kosmider, Olivier; Couronné, Lucile

One-Step Next-Generation Sequencing of Immunoglobulin and T-Cell Receptor Gene Recombinations for MRD Marker Identification in Acute Lymphoblastic Leukemia

一步法下一代测序免疫球蛋白和T细胞受体基因重组用于急性淋巴细胞白血病微小残留病标志物鉴定

Villarese, Patrick; Abdo, Chrystelle; Bertrand, Matthieu; Thonier, Florian; Giraud, Mathieu; Salson, Mikaël; Macintyre, Elizabeth

Validation of the EuroClonality-NGS DNA capture panel as an integrated genomic tool for lymphoproliferative disorders

验证 EuroClonality-NGS DNA 捕获试剂盒作为淋巴增生性疾病的综合基因组学工具

Stewart, James Peter; Gazdova, Jana; Darzentas, Nikos; Wren, Dörte; Proszek, Paula; Fazio, Grazia; Songia, Simona; Alcoceba, Miguel; Sarasquete, Maria Eugenia; Villarese, Patrick; van der Klift, Michèle Y; Heezen, Kim C; McCafferty, Neil; Pal, Karol; Catherwood, Mark; Kim, Chang Sik; Srivastava, Shambhavi; Kroeze, Leonie I; Hodges, Elizabeth; Stamatopoulos, Kostas; Klapper, Wolfram; Genuardi, Elisa; Ferrero, Simone; van den Brand, Michiel; Cazzaniga, Giovanni; Davi, Frederic; Sutton, Lesley-Ann; Garcia-Sanz, Ramon; Groenen, Patricia J T A; Macintyre, Elizabeth A; Brüggemann, Monika; Pott, Christiane; Langerak, Anton W; Gonzalez, David

Droplet Digital PCR Quantification of Mantle Cell Lymphoma Follow-up Samples From Four Prospective Trials of the European MCL Network

欧洲套细胞淋巴瘤网络四项前瞻性试验中套细胞淋巴瘤随访样本的液滴数字PCR定量分析

Drandi, Daniela; Alcantara, Marion; Benmaad, Ichrafe; Söhlbrandt, Arian; Lhermitte, Ludovic; Zaccaria, GianMaria; Ferrante, Martina; Genuardi, Elisa; Mantoan, Barbara; Villarese, Patrick; Cheminant, Morgane; Starza, Irene Della; Ciabatti, Elena; Bomben, Riccardo; Jimenez, Cristina; Callanan, Mary; Abdo, Chrystelle; Eckert, Cornelia; Ribrag, Vincent; Cortelazzo, Sergio; Dreyling, Martin; Hermine, Olivier; Delfau-Larue, Marie-Hélène; Pott, Christiane; Ladetto, Marco; Ferrero, Simone; Macintyre, Elizabeth