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

Prevalence of the Predisposing Gene MBD4 for Uveal Melanoma

葡萄膜黑色素瘤易感基因MBD4的患病率

Le Ven, Anaïs; Villy, Marie-Charlotte; Le Mentec, Marine; Houy, Alexandre; Dubois d'Enghien, Catherine; Matet, Alexandre; Malaise, Denis; Bubien, Virginie; Lortholary, Alain; Ait Omar, Amal; Stoppa-Lyonnet, Dominique; Cassoux, Nathalie; Rodrigues, Manuel; Golmard, Lisa; Stern, Marc-Henri; Colas, Chrystelle

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories

解读与TP53致病变异相关的双重临床实体:来自法国实验室53085例HBOC基因检测的启示

Kasper, Edwige; Boulouard, Flavie; Basset, Noémie; Golmard, Lisa; Sassi, Hela; Bouvignies, Emilie; Branchaud, Maud; Charbonnier, Camille; Parodi, Nathalie; Rolain, Marion; Albuisson, Juliette; Al Saati, Ayman; Benusiglio, Patrick; Berthet, Pascaline; Bidart, Marie; Bonnet, Céline; Bouras, Ahmed; Boutry-Kryza, Nadia; Brayotel, Fanny; Bubien, Virginie; Buisson, Adrien; Castéra, Laurent; Caron, Olivier; Colas, Chrystelle; Coulet, Florence; Delnatte, Capucine; Derangère, Valentin; Fievet, Alice; Garrec, Céline; Gauthier-Villars, Marion; Gay-Bellile, Mathilde; Goussot, Vincent; le Gall, Jessica; Lepage, Mathis; Lokchine, Anna; Perrier, Alexandre; Rouleau, Etienne; Sevenet, Nicolas; Stoppa-Lyonnet, Dominique; Ravel, Jean-Marie; Perre, Pierre Vande; Vaur, Dominique; Vilquin, Paul; Bougeard, Gaëlle; Baert-Desurmont, Stéphanie; Thery, Jean-Christophe; Houdayer, Claude

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature

PTEN 嵌合体的诊断:额外肿瘤 DNA 测序的相关性。病例报告和文献综述

Mathias Cavaillé, Delphine Crampon, Viorel Achim, Virginie Bubien, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Mathilde Gay-Bellile, Mathis Lepage, Zangbéwendé Guy Ouedraogo, Natalie Jones, Yannick Bidet, Nicolas Sevenet, Yves-Jean Bignon

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

通过共分离研究对101个意义未明的BRCA1和BRCA2变异进行分类:一种有效的方法

Caputo, Sandrine M; Golmard, Lisa; Léone, Mélanie; Damiola, Francesca; Guillaud-Bataille, Marine; Revillion, Françoise; Rouleau, Etienne; Derive, Nicolas; Buisson, Adrien; Basset, Noémie; Schwartz, Mathias; Vilquin, Paul; Garrec, Celine; Privat, Maud; Gay-Bellile, Mathilde; Abadie, Caroline; Abidallah, Khadija; Airaud, Fabrice; Allary, Anne-Sophie; Barouk-Simonet, Emmanuelle; Belotti, Muriel; Benigni, Charlotte; Benusiglio, Patrick R; Berthemin, Christelle; Berthet, Pascaline; Bertrand, Ophelie; Bézieau, Stéphane; Bidart, Marie; Bignon, Yves-Jean; Birot, Anne-Marie; Blanluet, Maud; Bloucard, Amelie; Bombled, Johny; Bonadona, Valerie; Bonnet, Françoise; Bonnet-Dupeyron, Marie-Noëlle; Boulaire, Manon; Boulouard, Flavie; Bouras, Ahmed; Bourdon, Violaine; Brahimi, Afane; Brayotel, Fanny; Bressac de Paillerets, Brigitte; Bronnec, Noémie; Bubien, Virginie; Buecher, Bruno; Cabaret, Odile; Carriere, Jennifer; Chiesa, Jean; Chieze-Valéro, Stephanie; Cohen, Camille; Cohen-Haguenauer, Odile; Colas, Chrystelle; Collonge-Rame, Marie-Agnès; Conoy, Anne-Laure; Coulet, Florence; Coupier, Isabelle; Crivelli, Louise; Cusin, Véronica; De Pauw, Antoine; Dehainault, Catherine; Delhomelle, Hélène; Delnatte, Capucine; Demontety, Sophie; Denizeau, Philippe; Devulder, Pierre; Dreyfus, Helene; d'Enghein, Catherine Dubois; Dupré, Anaïs; Durlach, Anne; Dussart, Sophie; Fajac, Anne; Fekairi, Samira; Fert-Ferrer, Sandra; Fiévet, Alice; Fouillet, Robin; Mouret-Fourme, Emmanuelle; Gauthier-Villars, Marion; Gesta, Paul; Giraud, Sophie; Gladieff, Laurence; Goldbarg, Veronica; Goussot, Vincent; Guibert, Virginie; Guillerm, Erell; Guy, Christophe; Hardouin, Agnès; Heude, Céline; Houdayer, Claude; Ingster, Olivier; Jacquot-Sawka, Caroline; Jones, Natalie; Krieger, Sophie; Lacoste, Sofiane; Lallaoui, Hakima; Larbre, Helene; Laugé, Anthony; Le Guyadec, Gabrielle; Le Mentec, Marine; Lecerf, Caroline; Le Gall, Jessica; Legendre, Bérengère; Legrand, Clémentine; Legros, Angélina; Lejeune, Sophie; Lidereau, Rosette; Lignon, Norbert; Limacher, Jean-Marc; Doriane Livon; Lizard, Sarab; Longy, Michel; Lortholary, Alain; Macquere, Pierre; Mailliez, Audrey; Malsa, Sarah; Margot, Henri; Mari, Véronique; Maugard, Christine; Meira, Cindy; Menjard, Julie; Molière, Diane; Moncoutier, Virginie; Moretta-Serra, Jessica; Muller, Etienne; Nevière, Zoe; Nguyen Minh Tuan, Thien-Vu; Noguchi, Tetsuro; Noguès, Catherine; Oca, Florine; Popovici, Cornel; Prieur, Fabienne; Raad, Sabine; Rey, Jean-Marc; Ricou, Agathe; Salle, Lucie; Saule, Claire; Sevenet, Nicolas; Simaga, Fatoumata; Sobol, Hagay; Suybeng, Voreak; Tennevet, Isabelle; Tenreiro, Henrique; Tinat, Julie; Toulas, Christine; Turbiez, Isabelle; Uhrhammer, Nancy; Vande Perre, Pierre; Vaur, Dominique; Venat, Laurence; Viellard, Nicolas; Villy, Marie-Charlotte; Warcoin, Mathilde; Yvard, Alice; Zattara, Helene; Caron, Olivier; Lasset, Christine; Remenieras, Audrey; Boutry-Kryza, Nadia; Castéra, Laurent; Stoppa-Lyonnet, Dominique

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

TUMOSPEC:一项针对携带预测致病变异的遗传性乳腺癌和卵巢癌家族的全国性研究,该研究通过多基因检测进行。

Lesueur, Fabienne; Eon-Marchais, Séverine; Bonnet-Boissinot, Sarah; Beauvallet, Juana; Dondon, Marie-Gabrielle; Golmard, Lisa; Rouleau, Etienne; Garrec, Céline; Martinez, Mathilde; Toulas, Christine; Nguyen, Tan Dat; Brayotel, Fanny; Crivelli, Louise; Maugard, Christine M; Bubien, Virginie; Sevenet, Nicolas; Gesta, Paul; Chieze-Valero, Stéphanie; Nambot, Sophie; Goussot, Vincent; Mari, Véronique; Popovici, Cornel; Prieur, Fabienne; Morin-Meschin, Marie-Emmanuelle; Tinat, Julie; Lortholary, Alain; Dreyfus, Hélène; Bidart, Marie; Collonge-Rame, Marie-Agnès; Mozelle-Nivoix, Monique; Gladieff, Laurence; Giraud, Sophie; Boutry-Kryza, Nadia; Chiesa, Jean; Denizeau, Philippe; Bignon, Yves-Jean; Uhrhammer, Nancy; Cohen-Haguenauer, Odile; Vilquin, Paul; Mailliez, Audrey; Coupier, Isabelle; Rey, Jean-Marc; Lacaze, Elodie; Béra, Odile; Colas, Chrystelle; Coulet, Florence; Delnatte, Capucine; Houdayer, Claude; Lasset, Christine; Lemonnier, Jérôme; Longy, Michel; Noguès, Catherine; Stoppa-Lyonnet, Dominique; Vaur, Dominique; Andrieu, Nadine; Caron, Olivier

Gains in Paroxysmal Atrial Fibrillation Ablation Using a Standardized Workflow to Optimize Contact Force Technologies

利用标准化工作流程优化接触力技术提高阵发性房颤消融术的疗效

Osorio, Jose; Hunter, Tina D; Bubien, Rosemary S; Rajendra, Anil; Arciniegas, Joaquin; Morales, Gustavo

Single Day Observational Experience at High Volume Ablation Programs: What is the Impact to Practicing Electrophysiologists?

在高容量消融项目中进行单日观察体验:对执业电生理学家有何影响?

Osorio, Jose; Bubien, Rosemary S; Ruff, Jason D; Brenyo, Andrew J; Rajendra, Anil; Gidney, Brett A; Zei, Paul; Morales, Gustavo X

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome

考登综合征中 PTEN 热点区域插入 Alu 元件

Crivelli, Louise; Bubien, Virginie; Jones, Natalie; Chiron, Jennifer; Bonnet, Françoise; Barouk-Simonet, Emmanuelle; Couzigou, Patrice; Sevenet, Nicolas; Caux, Frédéric; Longy, Michel

Epithelial Na+ channel (ENaC), hormones, and hypertension

上皮钠通道 (ENaC)、激素和高血压

Bubien, James K

Knockdown of ASIC1 and epithelial sodium channel subunits inhibits glioblastoma whole cell current and cell migration

ASIC1 和上皮钠通道亚基的敲低抑制了胶质母细胞瘤全细胞电流和细胞迁移

Niren Kapoor, Rafal Bartoszewski, Yawar J Qadri, Zsuzsanna Bebok, James K Bubien, Catherine M Fuller, Dale J Benos