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

SUN-465 A Rare Germline Loss-of-Function Variant in the Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 2 Gene in a Patient with Abdominal Paraganglioma

SUN-465:腹部副神经节瘤患者丙酮酸脱氢酶磷酸酶催化亚基 2 基因中罕见的种系功能缺失变异

O'Halloran, Ken D; Iturriaga, Rodrigo; Rocher, Asuncion; Couto, Blas; Pinto, María Jose Angel; Avale, Maria‐Elena; Falzone, Tomas; Gershanik, Oscar; Chade, Anabel; Mizraji, Gabriel; Gonzalez‐Toledo, Maria Eugenia; Peralta, Maria; Gomez‐Arevalo, Gonzalo; Mezmezian, Monica; Marras, Connie; Sevlever, Gustavo; Freitas-Castro, Felipe; Cardoso Fagundes, Gustavo Freitas; Santana, Lucas Santos; Afonso, Ana Caroline F; Ledesma, Felipe L; Soares, Ibere C; Mendonca, Berenice B; Latronico, Ana Claudia; Almeida, Madson Q

SLC25A11, a Novel Gene Associated With Carney-Stratakis Syndrome.

SLC25A11,一种与卡尼-斯特拉塔基斯综合征相关的新基因

Freitas-Castro Felipe, Santana Lucas S, Fagundes Gustavo F C, Lobato Eduardo C, Afonso Ana Caroline F, Nakamura Izabel T, Ledesma Felipe L, Soares Ibere C, Mendonca Berenice B, Latronico Ana Claudia, Stratakis Constantine A, Almeida Madson Q

Pathogenicity of germline VHL variants is associated with renal cell carcinoma size in von Hippel-Lindau disease.

生殖系 VHL 变异的致病性与 von Hippel-Lindau 病中的肾细胞癌大小相关

Mori Gustavo H, Fagundes Gustavo F C, Santana Lucas S, Freitas-Castro Felipe, Afonso Ana Caroline F, Lourenço Delmar M Jr, Pereira Maria Adelaide A, Tanno Fabio Y, Srougi Victor, Chambo Jose L, Cordeiro Mauricio D, Nahas William C, Hoff Ana O, Fragoso Maria Candida B V, Mendonca Berenice B, Latronico Ana Claudia, Almeida Madson Q

SAT307 Intraoperative Radiofrequency Ablation Of An Unresectable Abdominal Paraganglioma Promoted Objective Tumor Response And Complete Biochemical Remission

SAT307 术中射频消融治疗不可切除的腹部副神经节瘤,促进了肿瘤的客观缓解和完全生化缓解

Lavinas-Jones, Julia Mandaro; Toyoshima, Marcos Tadashi Kakitani; Mesquita, Laura Andrade; Nery, Marcia; Feitosa, Alina Coutinho Rodrigues; de Magalhães, Isabelle P A; Boger, Bibiana S; Gomes, Nathalia L R A; Martins, Guilherme L P; Bomfim, Leomarques A; Fagundes, Gustavo F C; Afonso, Ana Caroline F; Petenuci, Janaina; Coelho, Fernando M A; Srougi, Victor; Tanno, Fabio Y; Chambo, Jose L; Latronico, Ana Claudia; Fragoso, Maria Candida B V; Hoff, Ana O; Mendonca, Berenice B; Menezes, Marcos R; Almeida, Madson Q

THU211 Novel SIN3A Loss-Of-Function Variant As Potentially Pathogenic For Hypogonadotropic Hypogonadism In Witteveen-Kolk Syndrome

THU211 新型 SIN3A 功能缺失变异体可能是 Witteveen-Kolk 综合征中低促性腺激素性性腺功能减退症的致病因素

Beltrán, Juan F; Rodríguez-Rodríguez, Eduardo J; Batista, Rafael Loch; Ramos, Raquel M; Afonso, Ana Caroline F; Petroli, Reginaldo J; Nishi, Mirian Yumie; Martins Ferrari, Maria Tereza; Domenice, Sorahia; Mendonca, Berenice Bilharinho; Correa Brito, Lourdes Magdalena; Keselman, Ana Claudia; Sanguineti, Nora Maria; Scaglia, Paula Alejandra; Azcoiti, María Esnaola; Villegas, Florencia; Maier, Marianela; Bergada, Ignacio; Ropelato, Maria Gabriela; Rey, Rodolfo A