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

Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort

Xia-Gibbs综合征的临床和分子特征:扩展巴西人群的表型谱

Sennes, Maísa Ganz Sanchez; Carvalho, Laura Machado Lara; Castro, Matheus Augusto Araújo; Toccoli, Giovana Manilli; Farias, Sofia de Oliveira; Fialho, Davi Mendes Campo; Bertollo, Eny Maria Goloni; Pavarino, Erika Cristina; de Athayde, Larissa Sampaio; Buck, Cecilia Barbosa; Toralles, Maria Betânia Pereira; Melaragno, Maria Isabel; Riegel-Giugliani, Mariluce; Spolador, Gustavo Marquezani; Otto, Paulo Alberto; Piai, Caroline Brandão; Kok, Fernando; Cechella, Ceres Schmitz; Rosenberg, Carla; Llerena, Juan Clinton; Bertola, Débora Romeo; Raskin, Salmo; Kim, Chong Ae; Krepischi, Ana Cristina Victorino

Epidemiological and clinical factors of breast cancer in a population of mostly Afro-descendant women

以非洲裔女性为主的人群中乳腺癌的流行病学和临床因素

Neiva, J C B; Fernandes, M D B; Toralles, M B P; Andrade, R S; Erfani, K J; Maia, M E F; Santana, J M; Silva, I M M; Reis, J B L; Klein, S O T

Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil

识别智力障碍患者的遗传病因:巴西东北部公共卫生服务的经验

de Carvalho, Acacia Fernandes Lacerda; Alves, Esmeralda Santos; Pitanga, Paula Monique Leite; Ribeiro, Erlane Marques; Doriqui, Maria Juliana Rodovalho; Toralles, Maria Betânia Pereira; Topázio, Bianca Arcaro; Dos Santos, Jéssica Fernandes; de Lima, Renata Lúcia Leite Ferreira; Kulikowski, Leslie Domenici; Acosta, Angelina Xavier

Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil

巴西东北部一家癌症风险诊所确诊女性乳腺癌易感基因的突变谱

Felix, Gabriela E S; Guindalini, Rodrigo Santa Cruz; Zheng, Yonglan; Walsh, Tom; Sveen, Elisabeth; Lopes, Taisa Manuela Machado; Côrtes, Juliana; Zhang, Jing; Carôzo, Polyanna; Santos, Irlânia; Bonfim, Thaís Ferreira; Garicochea, Bernardo; Toralles, Maria Betânia Pereira; Meyer, Roberto; Netto, Eduardo Martins; Abe-Sandes, Kiyoko; King, Mary-Claire; de Oliveira Nascimento, Ivana Lucia; Olopade, Olufunmilayo I

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

由Wnt分泌缺陷引起的人类多器官多效性疾病

Chai, Guoliang; Szenker-Ravi, Emmanuelle; Chung, Changuk; Li, Zhen; Wang, Lu; Khatoo, Muznah; Marshall, Trevor; Jiang, Nan; Yang, Xiaoxu; McEvoy-Venneri, Jennifer; Stanley, Valentina; Anzenberg, Paula; Lang, Nhi; Wazny, Vanessa; Yu, Jia; Virshup, David M; Nygaard, Rie; Mancia, Filippo; Merdzanic, Rijad; Toralles, Maria B P; Pitanga, Paula M L; Puri, Ratna D; Hernan, Rebecca; Chung, Wendy K; Bertoli-Avella, Aida M; Al-Sannaa, Nouriya; Zaki, Maha S; Willert, Karl; Reversade, Bruno; Gleeson, Joseph G

The impact of the incorporation of a feasible postoperative mortality model at the Post-Anaesthestic Care Unit (PACU) on postoperative clinical deterioration: A pragmatic trial with 5,353 patients

在麻醉后恢复室(PACU)引入可行的术后死亡率模型对术后临床恶化的影响:一项纳入5353例患者的实用性试验

de Souza Gutierrez, Claudia; Bottega, Katia; de Jezus Castro, Stela Maris; Gravina, Gabriela Leal; Toralles, Eduardo Kohls; Silveira Martins, Otávio Ritter; Caumo, Wolnei; Stefani, Luciana Cadore

Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?

在 45,X 特纳综合征中寻找染色体嵌合体:这有多重要?

Soares, Jéssica Silva; da Silva Lago, Renata Maria Rabello; Toralles, Maria Betânia Pereira; Mota, Laís Ribeiro; Alves, Esmeralda Santos; de Carvalho, Acácia Fernandes Lacerda

Graves' disease inducing a massive cardiac tamponade

格雷夫斯病诱发大面积心包填塞

Fonseca, Elisabeth Martinez; Schonhofen, Igor; Toralles, Maria Pereira; de Carvalho, Jozelio Freire

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

一例伴有GEFS+表型谱的轻型KBG综合征患者发现新型ANKRD11基因突变:病例报告

Alves, Rita Maria; Uva, Paolo; Veiga, Marielza F; Oppo, Manuela; Zschaber, Fabiana C R; Porcu, Giampiero; Porto, Henrique P; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Atzeni, Rossano; Vieira, Lauro C N; Pires, Marcos V A; Cucca, Francesco; Toralles, Maria Betânia P; Angius, Andrea; Crisponi, Laura

BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome

巴西遗传性乳腺癌和卵巢癌综合征患者的BRCA1和BRCA2基因重排

Ewald, Ingrid Petroni; Cossio, Silvia Liliana; Palmero, Edenir Inez; Pinheiro, Manuela; Nascimento, Ivana Lucia de Oliveira; Machado, Taisa Manuela Bonfim; Sandes, Kiyoko Abe; Toralles, Betânia; Garicochea, Bernardo; Izetti, Patricia; Pereira, Maria Luiza Saraiva; Bock, Hugo; Vargas, Fernando Regla; Moreira, Miguel Ângelo Martins; Peixoto, Ana; Teixeira, Manuel R; Ashton-Prolla, Patricia