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

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

产前结节性硬化症的诊断:240 例回顾性研究及文献综述

Milon Vincent, Malinge Marie-Claire, Blanluet Maud, Tessarech Marine, Battault Clarisse, Prestwich Sarah, Vary Béatrice, Gueracher Pierre, Legoff Louis, Barth Magalie, Houdayer Clara, Guichet Agnès, Rousseau Audrey, Bonneau Dominique, Procaccio Vincent, Bris Céline, Colin Estelle

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

采用基因型优先的方法识别CDH1种系变异与癌症表型之间的关联:欧洲遗传肿瘤风险综合征参考网络的多中心研究

Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sérgio; Sousa, Sónia; Pinheiro, Hugo; Sousa, Liliana; Monteiro, Rita; Maqueda, Joaquin J; Fernandes, Susana; Carneiro, Fátima; Pinto, Nádia; Lemos, Carolina; Pinto, Carla; Teixeira, Manuel R; Aretz, Stefan; Bajalica-Lagercrantz, Svetlana; Balmaña, Judith; Blatnik, Ana; Benusiglio, Patrick R; Blanluet, Maud; Bours, Vincent; Brems, Hilde; Brunet, Joan; Calistri, Daniele; Capellá, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; de Putter, Robin; Desseignés, Camille; Domínguez-Garrido, Elena; Egas, Conceição; Evans, D Gareth; Feret, Damien; Fewings, Eleanor; Fitzgerald, Rebecca C; Coulet, Florence; Garcia-Barcina, María; Genuardi, Maurizio; Golmard, Lisa; Hackmann, Karl; Hanson, Helen; Holinski-Feder, Elke; Hüneburg, Robert; Krajc, Mateja; Lagerstedt-Robinson, Kristina; Lázaro, Conxi; Ligtenberg, Marjolijn J L; Martínez-Bouzas, Cristina; Merino, Sonia; Michils, Geneviève; Novaković, Srdjan; Patiño-García, Ana; Ranzani, Guglielmina Nadia; Schröck, Evelin; Silva, Inês; Silveira, Catarina; Soto, José L; Spier, Isabel; Steinke-Lange, Verena; Tedaldi, Gianluca; Tejada, María-Isabel; Woodward, Emma R; Tischkowitz, Marc; Hoogerbrugge, Nicoline; Oliveira, Carla

Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

婴儿期帕金森症、运动障碍和发育迟缓:不要忘记多聚谷氨酰胺缺陷!

Baide-Mairena, Heidy; Coget, Arthur; Leboucq, Nicolas; Procaccio, Vincent; Blanluet, Maud; Meyer, Pierre; Malinge, Marie-Claire; François-Heude, Marie-Céline; Moreno, Mathis; Geneviève, David; Marelli, Cecilia; Roubertie, Agathe

Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island

留尼汪岛患有胎儿酒精谱系障碍的儿童和青少年染色体拷贝数变异描述

Sennsfelder, Laëtitia; Guilly, Susie; Leruste, Sébastien; Hoareau, Ludovic; Léocadie, Willy; Beuvain, Pauline; Nekaa, Meïssa; Bagard, Maïté; Robin, Stéphanie; Lanneaux, Justine; Etchebarren, Léa; Tallot, Marilyn; Spodenkiewicz, Michel; Alessandri, Jean-Luc; Morel, Godelieve; Blanluet, Maud; Gueguen, Paul; Roy-Doray, Bérénice

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

Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands

1800 年前出现的复发性 FAN1 p.W707X 致病变异是南太平洋岛屿上高发核巨细胞性间质性肾炎的根本原因。

Gueguen, Lorraine; Delaval, Ronan; Blanluet, Maud; Sartelet, Hervé; Leou, Sylvie; Dubois d'Enghien, Catherine; Golmard, Lisa; Stoppa-Lyonnet, Dominique; Testevuide, Pascale; Faguer, Stanislas

LGG-33. ISOMORPHIC DIFFUSE GLIOMA HAS RECURRENT GENE FUSIONS OF MYBL1 OR MYB AND CAN BE DISTINGUISHED FROM OTHER MYB/MYBL1 ALTERED GLIOMAS BASED ON A DISTINCT MORPHOLOGY AND DNA METHYLATION PROFILE

LGG-33。同形弥漫性胶质瘤具有MYBL1或MYB基因的复发性融合,可根据其独特的形态学和DNA甲基化谱与其他MYB/MYBL1改变的胶质瘤相鉴别。

Braune, Katarina; Wäldchen, Mandy; Raile, Klemens; Hahn, Sigrid; Ubben, Tebbe; Römer, Susanne; Hoeber, Daniela; Reibel, Nora Johanna; Launspach, Michael; Blankenstein, Oliver; Bührer, Christoph; Sill, Martin; Sahm, Felix; Schrimpf, Daniel; Capper, David; Pfister, Stefan M; von Deimling, Andreas; Jones, David T W; Fangusaro, Jason; Witt, Olas; Driever, Pablo Hernaiz; Bag, Asim; de Blank, Peter; Kadom, Nadja; Kilburn, Lindsay; Lober, Robert; Robison, Nathan; Fisher, Michael; Packer, Roger; Poussaint, Tina Young; Papusha, Ludmila; Avula, Shivaram; Brandes, Alba; Bouffet, Eric; Bowers, Daniel; Artemov, Anton; Chintagumpala, Murali; Zurakowski, David; van den Bent, Martin; Bison, Brigitte; Yeom, Kristen; Taal, Walter; Warren, Katherine; Masliah-Planchon, Julien; Girard, Elodie; Euskirchen, Philipp; Bourneix, Christine; Lequin, Delphine; Blanluet, Maud; Aillaud, Jean-Baptiste; Doz, Francois; Bourdeaut, Franck; Delattre, Olivier; Djirackor, Luna; Halldorsson, Skarphedinn; Sandberg, Cecilie; Euskirchen, Philipp; Skaga, Erlend; Kulesskiy, Evgeny; Wennerberg, Krister; Langmoen, Iver; Vik-Mo, Einar; Hagel, Christian; Sloman, Veronika; Mynarek, Martin; Petrasch, Katharina; Obrecht, Denise; Deinlein, Frank; Schmid, Renate; von Bueren, André O; Friedrich, Carsten; Juhnke, B Ole; Gerber, Nicolas U; Kwiecien, Robert; Girschick, Hermann; Höller, Alexandra; Zapf, Antonia; von Hoff, Katja; Rutkowski, Stefan; Goto, Hiroaki; Geoerger, Birgit; DuBois, Steven G; Grilley-Olson, Juneko E; van Tilburg, Cornelis M; Schulte, Johannes; Kang, Hyoung Jin; Tahara, Makoto; Boni, Valentina; Perreault, Sebastien; Capra, Michael; Reeves, John A; Brega, Nicoletta; Childs, Barrett H; Laetsch, Theodore W; Ziegler, David S; Doz, François; Ng, Chia Huan; Obrecht, Denise; Buntine, Molly; Wells, Olivia; Campbell, Martin A; Bhatia, Kanika; Sullivan, Michael; Williams, Molly; Quang, Dong Anh Khuong; Kinross, Kathryn; White, Christine; Algar, Elizabeth; Witt, Hendrik; Schuller, Ulrich; Mynarek, Martin; Pietsch, Torsten; Gerber, Nicolas U; Benesch, Martin; Warmuth-Metz, Monika; Kortmann, Rolf; Bison, Brigitte; Taylor, Michael D; Ramaswamy, Vijay; Rutkowski, Stefan; Pfister, Stefan M; Jones, David T W; Gottardo, Nicholas G; Von Hoff, Katja; Pajtler, Kristian W; Hansford, Jordan R; Sturm, Dominik; Sahm, Felix; Andreiuolo, Felipe; Capper, David; Gessi, Marco; Rode, Agata; Bison, Brigitte; Hirsch, Steffen; Gerber, Nicolas U; Gottardo, Nicholas G; Kramm, Christof M; Rutkowski, Stefan; von Deimling, Andreas; Pietsch, Torsten; Pfister, Stefan M; Jones, David T W; Wefers, Annika K; Stichel, Damian; Schrimpf, Daniel; Sahm, Felix; von Deimling, Andreas; Blumcke, Ingmar; Jones, David T W; Capper, David