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

Uveal Melanoma and the Lynch Syndrome Tumor Spectrum

葡萄膜黑色素瘤和林奇综合征肿瘤谱

Le Ven, Anaïs; Villy, Marie-Charlotte; Silveira, André Bortolini; Houy, Alexandre; Masliah-Planchon, Julien; Warcoin, Mathilde; Le Mentec, Marine; Simaga, Fatoumata; De Pauw, Antoine; Buecher, Bruno; Gauthier-Villars, Marion; Verrier, Thibault; Merchadou, Kevin; Renault, Victor; Vincent-Salomon, Anne; Sauge, Juliette; El Zein, Sophie; Dubois d'Enghien, Catherine; Piperno-Neumann, Sophie; Matet, Alexandre; Malaise, Denis; Cassoux, Nathalie; Lumbroso-Le Rouic, Livia; Stoppa-Lyonnet, Dominique; Stern, Marc-Henri; Rodrigues, Manuel; Golmard, Lisa; Colas, Chrystelle

SMARCB1-deficient malignant melanocytic uveal tumours: a new neural crest-derived tumour entity with SMARCB1-related germline predisposition

SMARCB1缺陷型恶性黑色素细胞性葡萄膜肿瘤:一种具有SMARCB1相关种系易感性的新型神经嵴来源肿瘤

Cyrta, Joanna; Masliah-Planchon, Julien; Hoare, Owen; Brillet, Riwan; Andrianteranagna, Mamy; Sohier, Pierre; Cardoen, Liesbeth; Bouchoucha, Yassine; Filser, Mathilde; Goncalves, Andreia; Caly, Martial; Fréneaux, Paul; Stefanaki, Kalliopi; Pefkianaki, Maria; Moschovi, Maria; Matet, Alexandre; Cassoux, Nathalie; Lumbroso-Le Rouic, Livia; Gauthier-Villars, Marion; Stern, Marc-Henri; Vincent-Salomon, Anne; Rodrigues, Manuel; Bourdeaut, Franck

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

Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes

乳腺癌筛查:DNA修复基因中罕见有害或预测有害变异与风险差异的关系

Ribeiro-Guerra, Maximiliano; Dondon, Marie-Gabrielle; Eon-Marchais, Séverine; Le Gal, Dorothée; Beauvallet, Juana; Mebirouk, Noura; Belotti, Muriel; Cavaciuti, Eve; Adenis-Lavignasse, Claude; Audebert-Bellanger, Séverine; Berthet, Pascaline; Bonadona, Valérie; Buecher, Bruno; Caron, Olivier; Cavaille, Mathias; Chiesa, Jean; Colas, Chrystelle; Coupier, Isabelle; Delnatte, Capucine; Dreyfus, Hélène; Fajac, Anne; Fert-Ferrer, Sandra; Fricker, Jean-Pierre; Gauthier-Villars, Marion; Gesta, Paul; Giraud, Sophie; Gladieff, Laurence; Lasset, Christine; Lejeune-Dumoulin, Sophie; Limacher, Jean-Marc; Longy, Michel; Lortholary, Alain; Luporsi, Elisabeth; Maugard, Christine M; Mortemousque, Isabelle; Nambot, Sophie; Noguès, Catherine; Pujol, Pascal; Venat-Bouvet, Laurence; Soubrier, Florent; Tinat, Julie; Tardivon, Anne; Lesueur, Fabienne; Stoppa-Lyonnet, Dominique; Andrieu, Nadine

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

Retinocytoma: Clinical and Genetic Characteristics in 16 Pediatric and Adult Cases

视网膜细胞瘤:16例儿童和成人病例的临床和遗传特征

Widehen, Chloé; Cassoux, Nathalie; Malaise, Denis; Aerts, Isabelle; Doz, François; Gauthier-Villars, Marion; Matet, Alexandre; Lumbroso-Le Rouic, Livia

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

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

The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling

光学基因组图谱在快速鉴定RB1重复和15q23q24.2三重复方面的临床价值,可为更恰当的产前遗传咨询提供依据。

Bouassida, Malek; Molina-Gomes, Denise; Koraichi, Fairouz; Hervé, Bérénice; Lhuilier, Morgane; Duvillier, Clémence; Le Gall, Jessica; Gauthier-Villars, Marion; Serazin, Valérie; Quibel, Thibaud; Dard, Rodolphe; Vialard, François

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

与BRCA1和BRCA2致病变异相关的癌症风险

Li, Shuai; Silvestri, Valentina; Leslie, Goska; Rebbeck, Timothy R; Neuhausen, Susan L; Hopper, John L; Nielsen, Henriette Roed; Lee, Andrew; Yang, Xin; McGuffog, Lesley; Parsons, Michael T; Andrulis, Irene L; Arnold, Norbert; Belotti, Muriel; Borg, Åke; Buecher, Bruno; Buys, Saundra S; Caputo, Sandrine M; Chung, Wendy K; Colas, Chrystelle; Colonna, Sarah V; Cook, Jackie; Daly, Mary B; de la Hoya, Miguel; de Pauw, Antoine; Delhomelle, Hélène; Eason, Jacqueline; Engel, Christoph; Evans, D Gareth; Faust, Ulrike; Fehm, Tanja N; Fostira, Florentia; Fountzilas, George; Frone, Megan; Garcia-Barberan, Vanesa; Garre, Pilar; Gauthier-Villars, Marion; Gehrig, Andrea; Glendon, Gord; Goldgar, David E; Golmard, Lisa; Greene, Mark H; Hahnen, Eric; Hamann, Ute; Hanson, Helen; Hassan, Tiara; Hentschel, Julia; Horvath, Judit; Izatt, Louise; Janavicius, Ramunas; Jiao, Yue; John, Esther M; Karlan, Beth Y; Kim, Sung-Won; Konstantopoulou, Irene; Kwong, Ava; Laugé, Anthony; Lee, Jong Won; Lesueur, Fabienne; Mebirouk, Noura; Meindl, Alfons; Mouret-Fourme, Emmanuelle; Musgrave, Hannah; Ngeow Yuen Yie, Joanne; Niederacher, Dieter; Park, Sue K; Pedersen, Inge Sokilde; Ramser, Juliane; Ramus, Susan J; Rantala, Johanna; Rashid, Muhammad U; Reichl, Florian; Ritter, Julia; Rump, Andreas; Santamariña, Marta; Saule, Claire; Schmidt, Gunnar; Schmutzler, Rita K; Senter, Leigha; Shariff, Saba; Singer, Christian F; Southey, Melissa C; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen; Teo, Soo Hwang; Terry, Mary Beth; Thomassen, Mads; Tischkowitz, Marc; Toland, Amanda E; Torres, Diana; Vega, Ana; Wagner, Sebastian A; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weber, Bernhard H F; Yannoukakos, Drakoulis; Spurdle, Amanda B; Easton, Douglas F; Chenevix-Trench, Georgia; Ottini, Laura; Antoniou, Antonis C