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

Constitutional BRCA1 Methylation is associated with high level of tumoral BRCA1 methylation and homologous recombination deficiency in triple-negative breast cancer

BRCA1基因甲基化与三阴性乳腺癌中肿瘤BRCA1基因高甲基化水平和同源重组缺陷相关

Pasanisi, Justine; Lamy, Constance; Lecompte, Lolita; Vacher, Sophie; Schwartz, Mathias; Hamza, Abderaouf; Caputo, Sandrine M; Ibadioune, Sabrina; Courtois, Laura; Berger, Frédérique; Cockenpot, Vincent; Baulande, Sylvain; Pierga, Jean-Yves; Callens, Celine; Melaabi, Samia; Colas, Chrystelle; Pasmant, Eric; Kamal, Maud; Dupain, Célia; Servant, Nicolas; Le Tourneau, Christophe; Bièche, Ivan

Expanding the Clinicopathologic Spectrum of EWSR1::SSX-Rearranged Sarcomas: Series of 11 Cases Including Osteosarcomas and a Novel EWSR1::SSX4 Fusion

扩展 EWSR1::SSX 重排肉瘤的临床病理谱:包括骨肉瘤和一种新型 EWSR1::SSX4 融合在内的 11 例病例系列

Gross, John M; Suster, David I; Zou, Ying; Mata, Douglas A; Amary, Fernanda; De Noon, Solange; Flanagan, Adrienne M; Wakeman, Kristina M; Wangsiricharoen, Sintawat; Dong, Fei; Lam, Suk Wai; Bovée, Judith V M G; Baltres, Aline; Pissaloux, Daniel; Pasmant, Eric; Larousserie, Frédérique; Miettinen, Markku; Hameed, Meera; Charville, Gregory W

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome

在一名患有索托斯综合征的塞内加尔儿童中鉴定出一种新的NSD1致病变异。

Diop, Jean Pascal Demba; Mbaye, Aminata; Diallo, Karamba; Pasmant, Eric; Ba, Seydi Abdoul; Sene, Adama; Videau, Michele; Ndiaye Diallo, Rokhaya

Impact of steroid differentiation on tumor microenvironment revealed by single-nucleus atlas of adrenal tumors

类固醇分化对肿瘤微环境的影响——肾上腺肿瘤单核图谱揭示

Jouinot, Anne; Martin, Yoann; Violon, Florian; Foulonneau, Thomas; Bendjelal, Yanis; Calvet, Philip; Izac, Brigitte; Letourneur, Franck; Bertholle, Céline; Andrieu, Muriel; Onifarasoaniaina, Rachel; Favier, Maryline; de Guitaut, Charlène; Fraikin, Archibald; de Murat, Daniel; Armignacco, Roberta; Benanteur, Nesrine; Birtolo, Maria Francesca; Sibony, Mathilde; Perlemoine, Karine; Vaduva, Patricia; Bouys, Lucas; Bonnet-Serrano, Fidéline; Dousset, Bertrand; Gaillard, Martin; Pasmant, Eric; Barat, Maxime; Dohan, Anthony; Haissaguerre, Magalie; Tabarin, Antoine; Libé, Rossella; Guignat, Laurence; Groussin, Lionel; Berthon, Annabel; Ragazzon, Bruno; Bertherat, Jérôme; Assié, Guillaume

PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series

PDE11A是原发性双侧肾上腺大结节性增生的表型调节因子:一项334例患者系列研究的结果

Vaduva, Patricia; Bouys, Lucas; Jouinot, Anne; Espiard, Stephanie; Chansavang, Albain; Berthon, Annabel; Néou, Mario; Vaczlavik, Anna; Violon, Florian; Charchar, Helaine; Kroiss, Matthias; Raverot, Gerald; Lasolle, Helene; Guignat, Laurence; Libé, Rossella; Assié, Guillaume; Tabarin, Antoine; Kamenicky, Peter; Pasmant, Eric; Fragoso, Maria; Stratakis, Constantine; Ragazzon, Bruno; Bertherat, Jérôme

High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer

早期发病的三阴性乳腺癌患者中,BRCA1 表观遗传突变的患病率很高

Schwartz, Mathias; Ibadioune, Sabrina; Delhomelle, Hélène; Barraud, Solenn; Caputo, Sandrine M; Trabelsi-Grati, Olfa; Villy, Marie-Charlotte; Laugé, Anthony; Tang, Roseline; Rouleau, Etienne; Mouret-Fourme, Emmanuelle; Stoppa-Lyonnet, Dominique; Pasmant, Éric; Golmard, Lisa; Colas, Chrystelle; Bièche, Ivan

Methylation-sensitive high-resolution melting technology is a simple and sensitive method to detect germline epimutation of the MLH1 gene promoter

甲基化敏感高分辨率熔解技术是一种简单灵敏的检测MLH1基因启动子种系表观突变的方法。

Delhomelle, Hélène; Trabelsi-Grati, Olfa; Villy, Marie-Charlotte; Ibadioune, Sabrina; Maraone, Frederic; Séné, Mathieu; Buecher, Bruno; Mouret-Fourme, Emmanuelle; Gauthier-Villars, Marion; Johannes, Faustine; Golmard, Lisa; Vincent-Salomon, Anne; Pasmant, Eric; Leclerc, Julie; Bahuau, Michel; Bièche, Ivan; Colas, Chrystelle

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

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update

原发性双侧肾上腺大结节性增生症中ARMC5基因的突变图谱:最新进展

Bouys, Lucas; Vaczlavik, Anna; Cavalcante, Isadora P; Violon, Florian; Jouinot, Anne; Berthon, Annabel; Vaduva, Patricia; Espiard, Stéphanie; Perlemoine, Karine; Kamenicky, Peter; Vantyghem, Marie-Christine; Tabarin, Antoine; Raverot, Gérald; Ronchi, Cristina L; Dischinger, Ulrich; Reincke, Martin; Fragoso, Maria C; Stratakis, Constantine A; Chansavang, Albain; Pasmant, Eric; Ragazzon, Bruno; Bertherat, Jérôme

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

NF1缺失综合征中大片段重排与患者表型的相关性:最新进展与综述

Pacot, Laurence; Girish, Milind; Knight, Samantha; Spurlock, Gill; Varghese, Vinod; Ye, Manuela; Thomas, Nick; Pasmant, Eric; Upadhyaya, Meena