Detection of epidermal growth factor receptor (EGFR) mutations from preoperative circulating tumor DNA (ctDNA) as a prognostic predictor for stage I–III non-small cell lung cancer...

por Guo, Kai, Shao, Changjian, Han, Lu, Liu, Honggang, Ma, Zhiqiang, Yang, Yang, Feng, Yingtong, Pan, Minghong, Santarpia, Mariacarmela, Carmo-Fonseca, Maria, Silveira, Catarina, Lee, Kye Young, Han, Jing, Li, Xiaofei, Yan, Xiaolong
Publicado 2021

Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR

por Silveira, Catarina, Sousa, Ana Carla, Janeiro, André, Malveiro, Sara, Teixeira, Encarnação, Brysch, Eva, Pantarotto, Marcos, Felizardo, Margarida, Madureira, Rosa, Nogueira, Fernando, Guimarães, Cátia, Matos, Cristina, Canário, Dolores, Bruges-Armas, Jácome, Carmo-Fonseca, Maria
Publicado 2021

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD

por Jorge, Sofia, Kidd, Kendrah, Vylet’al, Petr, Nogueira, Estela, Martin, Lauren, Howard, Katrice, Barešová, Veronika, Hodaňová, Kateřina, Hnízda, Aleš, Moldovan, Oana, Silveira, Catarina, Coutinho, Ana Margarida, Lopes, José António, Bleyer, Anthony J., Kmoch, Stanislav, Živná, Martina
Publicado 2023

Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast

por da Silva, Edaise M, Beca, Francisco, Sebastiao, Ana Paula Martins, Murray, Melissa P, Silveira, Catarina, Da Cruz Paula, Arnaud, Pareja, Fresia, Wen, Hannah Y, D'Alfonso, Timothy M, Edelweiss, Marcia, Weigelt, Britta, Brogi, Edi, Reis-Filho, Jorge S, Zhang, Hong
Publicado 2022

Comprehensive Genomic Profiling of Cell-Free Circulating Tumor DNA Detects Response to Ribociclib Plus Letrozole in a Patient with Metastatic Breast Cancer

por Silveira, Catarina, Sousa, Ana Carla, Corredeira, Patrícia, Martins, Marta, Sousa, Ana Rita, Da Cruz Paula, Arnaud, Selenica, Pier, Brown, David N., Golkaram, Mahdi, Kaplan, Shannon, Zhang, Shile, Liu, Li, Weigelt, Britta, Reis-Filho, Jorge S., Costa, Luís, Carmo-Fonseca, Maria
Publicado 2022

Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary

por Kim, Sarah H., Da Cruz Paula, Arnaud, Basili, Thais, Dopeso, Higinio, Bi, Rui, Pareja, Fresia, da Silva, Edaise M., Gularte-Mérida, Rodrigo, Sun, Zhen, Fujisawa, Sho, Smith, Caitlin G., Ferrando, Lorenzo, Martins Sebastião, Ana Paula, Bykov, Yonina, Li, Anqi, Silveira, Catarina, Ashley, Charles W., Stylianou, Anthe, Selenica, Pier, Samore, Wesley R., Jungbluth, Achim A., Zamarin, Dmitriy, Abu-Rustum, Nadeem R., Helin, Kristian, Soslow, Robert A., Reis-Filho, Jorge S., Oliva, Esther, Weigelt, Britta
Publicado 2020

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

por Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C., Calado, Joaquim, Torres, Rosa J., Lhotta, Karl, Steubl, Dominik, Gale, Daniel P., Gast, Christine, Gombos, Eva, Ainsworth, Hannah C., Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J., Murray, Susan L., Benson, Katherine A., Cavalleri, Gianpiero L., Votruba, Miroslav, Vrbacká, Alena, Amoroso, Antonio, Gianchino, Daniela, Caridi, Gianluca, Ghiggeri, Gian Marco, Divers, Jasmin, Scolari, Francesco, Devuyst, Olivier, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.
Publicado 2020

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...

por 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
Publicado 2023