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

The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients

巴西遗传性癌症风险综合征的遗传学:对1682名患者的综合分析

de Oliveira, Jarbas Maciel; Zurro, Nuria Bengala; Coelho, Antonio Victor Campos; Caraciolo, Marcel Pinheiro; de Alexandre, Rodrigo Bertollo; Cervato, Murilo Castro; Minillo, Renata Moldenhauer; de Vasconcelos Carvalho Neto, George; Grivicich, Ivana; Oliveira, João Bosco

The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis

巴西罕见基因组计划:全基因组测序在罕见病诊断中的验证

Coelho, Antonio Victor Campos; Mascaro-Cordeiro, Bruna; Lucon, Danielle Ribeiro; Nóbrega, Maria Soares; Reis, Rodrigo de Souza; de Alexandre, Rodrigo Bertollo; Moura, Livia Maria Silva; de Oliveira, Gustavo Santos; Guedes, Rafael Lucas Muniz; Caraciolo, Marcel Pinheiro; Zurro, Nuria Bengala; Cervato, Murilo Castro; Oliveira, João Bosco

Revisiting the Karyotype Evolution of Neotropical Boid Snakes: A Puzzle Mediated by Chromosomal Fissions

重新审视新热带蟒蛇的核型演化:染色体分裂介导的谜题

Viana, Patrik F; Ezaz, Tariq; Cioffi, Marcelo de Bello; Liehr, Thomas; Al-Rikabi, Ahmed; Tavares-Pinheiro, Rodrigo; Bertollo, Luiz Antônio Carlos; Feldberg, Eliana

Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects

巴西一个大家族中发现的家族性乳头状甲状腺癌与琥珀酸脱氢酶缺陷无关

Accordi, Elen Dias; Xekouki, Paraskevi; Azevedo, Bruna; de Alexandre, Rodrigo Bertollo; Frasson, Carla; Gantzel, Siliane Marie; Papadakis, Georgios Z; Angelousi, Anna; Stratakis, Constantine A; Sotomaior, Vanessa Santos; Faucz, Fabio R

Is IGSF1 involved in human pituitary tumor formation?

IGSF1是否参与人类垂体肿瘤的形成?

Faucz, Fabio R; Horvath, Anelia D; Azevedo, Monalisa F; Levy, Isaac; Bak, Beata; Wang, Ying; Xekouki, Paraskevi; Szarek, Eva; Gourgari, Evgenia; Manning, Allison D; de Alexandre, Rodrigo Bertollo; Saloustros, Emmanouil; Trivellin, Giampaolo; Lodish, Maya; Hofman, Paul; Anderson, Yvonne C; Holdaway, Ian; Oldfield, Edward; Chittiboina, Prashant; Nesterova, Maria; Biermasz, Nienke R; Wit, Jan M; Bernard, Daniel J; Stratakis, Constantine A

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation

由 Xq26 微重复和 GPR101 突变引起的巨人症和肢端肥大症

Trivellin, Giampaolo; Daly, Adrian F; Faucz, Fabio R; Yuan, Bo; Rostomyan, Liliya; Larco, Darwin O; Schernthaner-Reiter, Marie Helene; Szarek, Eva; Leal, Letícia F; Caberg, Jean-Hubert; Castermans, Emilie; Villa, Chiara; Dimopoulos, Aggeliki; Chittiboina, Prashant; Xekouki, Paraskevi; Shah, Nalini; Metzger, Daniel; Lysy, Philippe A; Ferrante, Emanuele; Strebkova, Natalia; Mazerkina, Nadia; Zatelli, Maria Chiara; Lodish, Maya; Horvath, Anelia; de Alexandre, Rodrigo Bertollo; Manning, Allison D; Levy, Isaac; Keil, Margaret F; Sierra, Maria de la Luz; Palmeira, Leonor; Coppieters, Wouter; Georges, Michel; Naves, Luciana A; Jamar, Mauricette; Bours, Vincent; Wu, T John; Choong, Catherine S; Bertherat, Jerome; Chanson, Philippe; Kamenický, Peter; Farrell, William E; Barlier, Anne; Quezado, Martha; Bjelobaba, Ivana; Stojilkovic, Stanko S; Wess, Jurgen; Costanzi, Stefano; Liu, Pengfei; Lupski, James R; Beckers, Albert; Stratakis, Constantine A

Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition

环磷酸腺苷和c-KIT信号通路在家族性睾丸生殖细胞肿瘤易感性中的作用

Azevedo, Monalisa F; Horvath, Anelia; Bornstein, Ethan R; Almeida, Madson Q; Xekouki, Paraskevi; Faucz, Fabio R; Gourgari, Evgenia; Nadella, Kiran; Remmers, Elaine F; Quezado, Martha; de Alexandre, Rodrigo Bertollo; Kratz, Christian P; Nesterova, Maria; Greene, Mark H; Stratakis, Constantine A

Phosphodiesterase function and endocrine cells: links to human disease and roles in tumor development and treatment

磷酸二酯酶功能与内分泌细胞:与人类疾病的联系及其在肿瘤发生发展和治疗中的作用

Levy, Isaac; Horvath, Anelia; Azevedo, Monalisa; de Alexandre, Rodrigo Bertollo; Stratakis, Constantine A