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

Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve

双等位基因生殖细胞 BRCA1 移码突变与孤立性卵巢储备功能减退相关

Anne Helbling-Leclerc, Marie Falampin, Abdelkader Heddar, Léa Guerrini-Rousseau, Maud Marchand, Iphigenie Cavadias, Nathalie Auger, Brigitte Bressac-de Paillerets, Laurence Brugieres, Bernard S Lopez, Michel Polak, Filippo Rosselli, Micheline Misrahi

FBXO32 links ubiquitination to epigenetic reprograming of melanoma cells

FBXO32 将泛素化与黑色素瘤细胞的表观遗传重编程联系起来

Nadia Habel #, Najla El-Hachem #, Frédéric Soysouvanh #, Hanene Hadhiri-Bzioueche, Serena Giuliano, Sophie Nguyen, Pavel Horák, Anne-Sophie Gay, Delphine Debayle, Nicolas Nottet, Guillaume Béranger, Brigitte Bressac-de Paillerets, Corine Bertolotto, Robert Ballotti

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

The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma

PI3K/mTOR通路是黑色素瘤和肾细胞癌患者中罕见种系变异的靶点

Hubert, Jean-Noël; Suybeng, Voreak; Vallée, Maxime; Delhomme, Tiffany M; Maubec, Eve; Boland, Anne; Bacq, Delphine; Deleuze, Jean-François; Jouenne, Fanélie; Brennan, Paul; McKay, James D; Avril, Marie-Françoise; Bressac-de Paillerets, Brigitte; Chanudet, Estelle

Melanoma Risk and Melanocyte Biology

黑色素瘤风险与黑色素细胞生物学

Bertrand, Julie U; Steingrimsson, Eirikur; Jouenne, Fanélie; Bressac-de Paillerets, Brigitte; Larue, Lionel

Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma

患有冯·希佩尔-林道病谱系肿瘤或副神经节瘤的患者中 VHL 基因新 E1' 隐秘外显子的种系突变

Alexandre Buffet, Bruna Calsina #, Shahida Flores #, Sophie Giraud #, Marion Lenglet #, Pauline Romanet, Elisa Deflorenne, Javier Aller, Isabelle Bourdeau, Brigitte Bressac-de Paillerets, María Calatayud, Caroline Dehais, Erwan De Mones Del Pujol, Atanaska Elenkova, Philippe Herman, Peter Kamenický,

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

利用 GenoMELPREDICT 估算全球家族性黑色素瘤病例中 CDKN2A 突变携带者的概率

Taylor, Nicholas J; Mitra, Nandita; Qian, Lu; Avril, Marie-Françoise; Bishop, D Timothy; Bressac-de Paillerets, Brigitte; Bruno, William; Calista, Donato; Cuellar, Francisco; Cust, Anne E; Demenais, Florence; Elder, David E; Gerdes, Anne-Marie; Ghiorzo, Paola; Goldstein, Alisa M; Grazziotin, Thais C; Gruis, Nelleke A; Hansson, Johan; Harland, Mark; Hayward, Nicholas K; Hocevar, Marko; Höiom, Veronica; Holland, Elizabeth A; Ingvar, Christian; Landi, Maria Teresa; Landman, Gilles; Larre-Borges, Alejandra; Mann, Graham J; Nagore, Eduardo; Olsson, Håkan; Palmer, Jane M; Perić, Barbara; Pjanova, Dace; Pritchard, Antonia L; Puig, Susana; Schmid, Helen; van der Stoep, Nienke; Tucker, Margaret A; Wadt, Karin A W; Yang, Xiaohong R; Newton-Bishop, Julia A; Kanetsky, Peter A

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

POT1种系错义变异p.I78T与家族性黑色素瘤的关联

Wong, Kim; Robles-Espinoza, Carla Daniela; Rodriguez, David; Rudat, Saskia S; Puig, Susana; Potrony, Miriam; Wong, Chi C; Hewinson, James; Aguilera, Paula; Puig-Butille, Joan Anton; Bressac-de Paillerets, Brigitte; Zattara, Hélène; van der Weyden, Louise; Fletcher, Christopher D M; Brenn, Thomas; Arends, Mark J; Quesada, Víctor; Newton-Bishop, Julia A; Lopez-Otin, Carlos; Bishop, D Timothy; Harms, Paul W; Johnson, Timothy M; Durham, Alison B; Lombard, David B; Adams, David J

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

儿童和青少年黑色素瘤中MC1R变异:一项多中心队列的回顾性汇总分析

Pellegrini, Cristina; Botta, Francesca; Massi, Daniela; Martorelli, Claudia; Facchetti, Fabio; Gandini, Sara; Maisonneuve, Patrick; Avril, Marie-Françoise; Demenais, Florence; Bressac-de Paillerets, Brigitte; Hoiom, Veronica; Cust, Anne E; Anton-Culver, Hoda; Gruber, Stephen B; Gallagher, Richard P; Marrett, Loraine; Zanetti, Roberto; Dwyer, Terence; Thomas, Nancy E; Begg, Colin B; Berwick, Marianne; Puig, Susana; Potrony, Miriam; Nagore, Eduardo; Ghiorzo, Paola; Menin, Chiara; Manganoni, Ausilia Maria; Rodolfo, Monica; Brugnara, Sonia; Passoni, Emanuela; Sekulovic, Lidija Kandolf; Baldini, Federica; Guida, Gabriella; Stratigos, Alexandros; Ozdemir, Fezal; Ayala, Fabrizio; Fernandez-de-Misa, Ricardo; Quaglino, Pietro; Ribas, Gloria; Romanini, Antonella; Migliano, Emilia; Stanganelli, Ignazio; Kanetsky, Peter A; Pizzichetta, Maria Antonietta; García-Borrón, Jose Carlos; Nan, Hongmei; Landi, Maria Teresa; Little, Julian; Newton-Bishop, Julia; Sera, Francesco; Fargnoli, Maria Concetta; Raimondi, Sara

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis

生殖系SUFU突变携带者与髓母细胞瘤:临床特征、癌症风险和预后

Guerrini-Rousseau, Léa; Dufour, Christelle; Varlet, Pascale; Masliah-Planchon, Julien; Bourdeaut, Franck; Guillaud-Bataille, Marine; Abbas, Rachid; Bertozzi, Anne-Isabelle; Fouyssac, Fanny; Huybrechts, Sophie; Puget, Stéphanie; Bressac-De Paillerets, Brigitte; Caron, Olivier; Sevenet, Nicolas; Dimaria, Marina; Villebasse, Sophie; Delattre, Olivier; Valteau-Couanet, Dominique; Grill, Jacques; Brugières, Laurence