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

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants

对疑似患有遗传性癌症的未确诊欧洲患者进行基因组测序:诊断率和候选致病变异的鉴定

Martins, Nelson; Terradas, Mariona; Garcia-Pelaez, José; Sommer, Anna K; Demidov, German; Matalonga, Leslie; Ramos-Muntada, Mireia; Te Paske, Iris B A W; Spier, Isabel; Mensenkamp, Arjen; Schuurs-Hoeijmakers, Janneke; Gullo, Irene; São José, Celina; Pedro, Ana Maria; Gouveia Silva, Raquel; Sousa, Ana Berta; Amoroso Canão, Pedro; Fernandes, Susana; Garrido, Luzia; Dupont, Juliette; Maia, Sofia; Sousa, Gabriela; Irmejs, Arvids; Barili, Valeria; Blatnik, Ana; Rofes, Paula; Brunet, Joan; Capellá, Gabriel; Laurie, Steven; Lázaro, Conxi; Hoogerbrugge, Nicoline; de Voer, Richarda M; Aretz, Stefan; Oliveira, Carla; Valle, Laura

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate

TP53种系检测与遗传性癌症:体细胞事件和临床标准如何影响变异检出率

Rofes, Paula; Castillo-Manzano, Carmen; Menéndez, Mireia; Teulé, Álex; Iglesias, Sílvia; Munté, Elisabet; Ramos-Muntada, Mireia; Gómez, Carolina; Tornero, Eva; Darder, Esther; Montes, Eva; Valle, Laura; Capellá, Gabriel; Pineda, Marta; Brunet, Joan; Feliubadaló, Lidia; Del Valle, Jesús; Lázaro, Conxi

Body composition as a complementary tool for detection of metabolic syndrome 6 years postpartum: a St. Carlos Cohort follow-up

产后6年,体成分作为代谢综合征检测的辅助工具:圣卡洛斯队列研究的随访

López-Plaza, Bricia; Larrad-Sainz, Angélica; Valerio, Johanna; O'Connor, Rocío Martín; Del Valle, Laura; Ramos-Levi, Ana M; Barabash, Ana; Marcuello, Clara; Jiménez-Varas, Inés; Rubio-Herrera, Miguel A; Matía-Martín, Pilar; Calle-Pascual, Alfonso L

A Greater Adherence to the Mediterranean Diet Supplemented with Extra Virgin Olive Oil and Nuts During Pregnancy Is Associated with Improved Offspring Health at Six Years of Age

孕期坚持食用富含特级初榨橄榄油和坚果的地中海饮食,与子女六岁时的健康状况改善相关。

Del Valle, Laura; Melero, Verónica; Bodas, Andrés; Martín O'Connor, Rocío; Ramos-Levi, Ana; Barabash, Ana; Valerio, Johanna; de Miguel, Paz; Díaz Pérez, José Ángel; Familiar Casado, Cristina; Moraga Guerrero, Inmaculada; Jiménez-Varas, Inés; Marcuello Foncillas, Clara; Pazos, Mario; Rubio-Herrera, Miguel A; López-Plaza, Bricia; Runkle, Isabelle; Matía-Martín, Pilar; Calle-Pascual, Alfonso L

Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.

HIC1 DNA 结合域的种系致病变异与家族性锯齿状息肉综合征有关

Domínguez-Rovira Xavier, Arnau-Collell Coral, Gonfaus-Ortiz Gemma, Llargués-Sistac Gemma, Muñoz Jenifer, Llopis Ainara, Soares de Lima Yasmin, Herrera-Pariente Cristina, Moreira Leticia, Ocaña Teresa, Díaz-Gay Marcos, Cuatrecasas Miriam, Carballal Sabela, López-Novo Anael, Fernàndez Guerau, Castells Antoni, Bujanda Luis, Capellà Gabriel, Cubiella Joaquín, Rodríguez-Alcalde Daniel, Valle Laura, Balaguer Francesc, Ruiz-Ponte Clara, Bonjoch Laia, Castellví-Bel Sergi

Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer

LTBP4(TGF-β信号通路的一个组成部分)和BRCA1的体细胞表观突变可能是早发性结直肠癌的潜在驱动因素。

Terradas, Mariona; Mur, Pilar; Morón-Duran, Francisco D; Mengod, Pol; Löffler, Chiara M L; Helderman, Noah C; Terlouw, Diantha; Sanjuán, Xavier; Bousquets-Muñoz, Pablo; Viana-Errasti, Julen; Puente, Xose S; Capellá, Gabriel; Nielsen, Maartje; van Wezel, Tom; Kather, Jakob Nikolas; Lázaro, Conxi; Moreno, Victor; Valle, Laura

APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites

APC I1307K 和临床管理:来自英国生物银行对阿什肯纳兹犹太人和非阿什肯纳兹犹太人结直肠癌和其他癌症风险关联分析的启示

Allen, Sophie; Rowlands, Charlie F; Latchford, Andrew; Turnbull, Clare; Valle, Laura

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

与MCM8和MCM9基因双等位基因种系变异相关的临床综合征

Helderman, Noah C; Yang, Ting; Palles, Claire; Terlouw, Diantha; Mei, Hailiang; Vorderman, Ruben H P; Cats, Davy; Díaz-Gay, Marcos; Jongmans, Marjolijn C J; Ramdien, Ashwin; van de Beek, Irma; Eleveld, Thomas F; Green, Andrew; Hes, Frederik J; van den Heuvel-Eibrink, Marry M; Van Der Kelen, Annelore; Kliesch, Sabine; Kuiper, Roland P; Lakeman, Inge M M; Lashley, Lisa E E L O; Looijenga, Leendert H J; Oud, Manon S; Steingröver, Johanna; Tenenbaum-Rakover, Yardena; Tops, Carli M; Tüttelmann, Frank; de Voer, Richarda M; Westra, Dineke; Wyrwoll, Margot J; Golubicki, Mariano; Antelo, Marina; Bonjoch, Laia; Terradas, Mariona; Valle, Laura; Alexandrov, Ludmil B; Morreau, Hans; van Wezel, Tom; Castellví-Bel, Sergi; Goldberg, Yael; Nielsen, Maartje

Genetics, genomics and clinical features of adenomatous polyposis

腺瘤性息肉病的遗传学、基因组学和临床特征

Joo, Jihoon E; Viana-Errasti, Julen; Buchanan, Daniel D; Valle, Laura

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision

欧洲家族性腺瘤性息肉病 (FAP)、MUTYH 相关性息肉病 (MAP)、胃腺癌、胃近端息肉病 (GAPPS) 及其他罕见腺瘤性息肉病综合征临床管理指南更新:EHTG-ESCP 联合修订版

Zaffaroni, Gloria; Mannucci, Alessandro; Koskenvuo, Laura; de Lacy, Borja; Maffioli, Anna; Bisseling, Tanya; Half, Elizabeth; Cavestro, Giulia Martina; Valle, Laura; Ryan, Neil; Aretz, Stefan; Brown, Karen; Buttitta, Francesco; Carneiro, Fatima; Claber, Oonagh; Blanco-Colino, Ruth; Collard, Maxime; Crosbie, Emma; Cunha, Miguel; Doulias, Triantafyllos; Fleming, Christina; Heinrich, Henriette; Hüneburg, Robert; Metras, Julie; Nagtegaal, Iris; Negoi, Ionut; Nielsen, Maartje; Pellino, Gianluca; Ricciardiello, Luigi; Sagir, Abdurrahman; Sánchez-Guillén, Luis; Seppälä, Toni T; Siersema, Peter; Striebeck, Benedikt; Sampson, Julian R; Latchford, Andrew; Parc, Yann; Burn, John; Möslein, Gabriela