Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Catarina Silveira"'
Autor:
Sofia Jorge, Kendrah Kidd, Petr Vylet’al, Estela Nogueira, Lauren Martin, Katrice Howard, Veronika Barešová, Kateřina Hodaňová, Aleš Hnízda, Oana Moldovan, Catarina Silveira, Ana Margarida Coutinho, José António Lopes, Anthony J. Bleyer, Stanislav Kmoch, Martina Živná
Publikováno v:
Kidney International Reports, Vol 8, Iss 5, Pp 1112-1116 (2023)
Externí odkaz:
https://doaj.org/article/578e96a7a178440d98d7e8bb2fdeb468
Autor:
Catarina Silveira, Ana Carla Sousa, Patrícia Corredeira, Marta Martins, Ana Rita Sousa, Arnaud Da Cruz Paula, Pier Selenica, David N. Brown, Mahdi Golkaram, Shannon Kaplan, Shile Zhang, Li Liu, Britta Weigelt, Jorge S. Reis-Filho, Luís Costa, Maria Carmo-Fonseca
Publikováno v:
Biomolecules, Vol 12, Iss 12, p 1818 (2022)
Analysis of cell-free circulating tumor DNA obtained by liquid biopsy is a non-invasive approach that may provide clinically actionable information when conventional tissue biopsy is inaccessible or infeasible. Here, we followed a patient with hormon
Externí odkaz:
https://doaj.org/article/eec7765c7472407b92e9cbbf8f2dd3f9
Autor:
Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer
Publikováno v:
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the p
Externí odkaz:
https://doaj.org/article/8ab1799f3ce441279d9513d18436243b
Autor:
Sofia Antunes-Duarte, Maria Mendonça-Sanches, Rita Pimenta, Ana Margarida Coutinho, Catarina Silveira, Luís Soares-de-Almeida, Paulo Filipe
Publikováno v:
Revista da Sociedade Portuguesa de Dermatologia e Venereologia, Vol 79, Iss 4 (2021)
Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, most
Externí odkaz:
https://doaj.org/article/0000746df8574126af59bddcdf37f026
Autor:
Sarah H. Kim, Arnaud Da Cruz Paula, Thais Basili, Higinio Dopeso, Rui Bi, Fresia Pareja, Edaise M. da Silva, Rodrigo Gularte-Mérida, Zhen Sun, Sho Fujisawa, Caitlin G. Smith, Lorenzo Ferrando, Ana Paula Martins Sebastião, Yonina Bykov, Anqi Li, Catarina Silveira, Charles W. Ashley, Anthe Stylianou, Pier Selenica, Wesley R. Samore, Achim A. Jungbluth, Dmitriy Zamarin, Nadeem R. Abu-Rustum, Kristian Helin, Robert A. Soslow, Jorge S. Reis-Filho, Esther Oliva, Britta Weigelt
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Little is known about the genetics of sclerosing stromal tumor of the ovary, a rare type of sex cord-stromal tumor. Here, the authors use sequencing strategies to show that in a cohort of 26 tumor samples 65% carry a FHL2-GLI2 fusion gene and demonst
Externí odkaz:
https://doaj.org/article/47b2a974b2b14385a7cca2142adfd91e
Autor:
Catarina Silveira Muñoz
Publikováno v:
Biblioteca Digital de Teses e Dissertações do ITAInstituto Tecnológico de AeronáuticaITA.
A filtração de solos com granulometria ampla pode apresentar problemas devido ao risco de ruptura da estrutura do solo ou de colmatação do filtro, pois este tipo de solo pode não ser capaz de reter suas próprias partículas finas, apresentando
Autor:
José Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, Alexandre Dias, Luzia Garrido, Sérgio Castedo, Sónia Sousa, Hugo Pinheiro, Liliana Sousa, Rita Monteiro, Joaquin J Maqueda, Susana Fernandes, Fátima Carneiro, Nádia Pinto, Carolina Lemos, Carla Pinto, Manuel R Teixeira, Stefan Aretz, Svetlana Bajalica-Lagercrantz, Judith Balmaña, Ana Blatnik, Patrick R Benusiglio, Maud Blanluet, Vincent Bours, Hilde Brems, Joan Brunet, Daniele Calistri, Gabriel Capellá, Sergio Carrera, Chrystelle Colas, Karin Dahan, Robin de Putter, Camille Desseignés, Elena Domínguez-Garrido, Conceição Egas, D Gareth Evans, Damien Feret, Eleanor Fewings, Rebecca C Fitzgerald, Florence Coulet, María Garcia-Barcina, Maurizio Genuardi, Lisa Golmard, Karl Hackmann, Helen Hanson, Elke Holinski-Feder, Robert Hüneburg, Mateja Krajc, Kristina Lagerstedt-Robinson, Conxi Lázaro, Marjolijn J L Ligtenberg, Cristina Martínez-Bouzas, Sonia Merino, Geneviève Michils, Srdjan Novaković, Ana Patiño-García, Guglielmina Nadia Ranzani, Evelin Schröck, Inês Silva, Catarina Silveira, José L Soto, Isabel Spier, Verena Steinke-Lange, Gianluca Tedaldi, María-Isabel Tejada, Emma R Woodward, Marc Tischkowitz, Nicoline Hoogerbrugge, Carla Oliveira
Publikováno v:
Garcia-Pelaez, J, Barbosa-Matos, R, Lobo, S, Dias, A, Garrido, L, Castedo, S, Sousa, S, Pinheiro, H, Sousa, L, Monteiro, R, Maqueda, J J, Fernandes, S, Carneiro, F, Pinto, N, Lemos, C, Pinto, C, Teixeira, M R, Aretz, S, Bajalica-Lagercrantz, S, Balmaña, J, Blatnik, A, Benusiglio, P R, Blanluet, M, Bours, V, Brems, H, Brunet, J, Calistri, D, Capellá, G, Carrera, S, Colas, C, Dahan, K, de Putter, R, Desseignés, C, Domínguez-Garrido, E, Egas, C, Evans, D G, Feret, D, Fewings, E, Fitzgerald, R C, Coulet, F, Garcia-Barcina, M, Genuardi, M, Golmard, L, Hackmann, K, Hanson, H, Holinski-Feder, E, Hüneburg, R, Krajc, M, Lagerstedt-Robinson, K, Lázaro, C, Ligtenberg, M J L, Martínez-Bouzas, C, Merino, S, Michils, G, Novaković, S, Patiño-García, A, Ranzani, G N, Schröck, E, Silva, I, Silveira, C, Soto, J L, Spier, I, Steinke-Lange, V, Tedaldi, G, Tejada, M-I, Woodward, E R, Tischkowitz, M, Hoogerbrugge, N & Oliveira, C 2023, ' 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 Syndromes ', The Lancet. Oncology, vol. 24, no. 1, pp. 91-106 . https://doi.org/10.1016/S1470-2045(22)00643-X
Lancet Oncology, 24, 1, pp. 91-106
Scientia
Lancet Oncology, 24, 91-106
Lancet Oncology, 24, 1, pp. 91-106
Scientia
Lancet Oncology, 24, 91-106
Genotype; Cancer phenotypes; Genetic tumour Genotip; Fenotips del càncer; Tumor genètic Genotipo; Fenotipos del cáncer; Tumor genético Background Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0135cda703c531e384ac8d463c801fde
https://lirias.kuleuven.be/handle/20.500.12942/714811
https://lirias.kuleuven.be/handle/20.500.12942/714811
Autor:
Sofia Jorge, Catarina Silveira, Márcia Rodrigues, Iolanda Godinho, Estela Nogueira, José António Lopes
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND AND AIMS ADTKD represents a recently described group of kidney diseases, characterized by chronic interstitial nephritis (CIN), in most cases hereditary, with an autosomal dominant inheritance pattern, subclassified according to its geneti
Autor:
Maria Carmo-Fonseca, M. Felizardo, Jácome Bruges-Armas, Dolores Canário, Marcos Pantarotto, Sara Malveiro, Catarina Silveira, Cristina Matos, F. Nogueira, Rosa Madureira, Eva Brysch, Ana Carla Sousa, Cátia Guimarães, Encarnação Teixeira, André Janeiro
Publikováno v:
Transl Lung Cancer Res
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
© Translational Lung Cancer Research. All rights reserved. This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-comme
Autor:
Sofia Antunes-Duarte, Maria Mendonça-Sanches, Rita Pimenta, Ana Margarida Coutinho, Catarina Silveira, Luís Soares-de-Almeida, Paulo Filipe
Publikováno v:
Revista da Sociedade Portuguesa de Dermatologia e Venereologia, Vol 79, Iss 4 (2021)
Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 79 n. 4 (2021): Outubro-Dezembro; 373-376
Journal of the Portuguese Society of Dermatology and Venereology; Vol 79 No 4 (2021): October-December; 373-376
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 79 n. 4 (2021): Outubro-Dezembro; 373-376
Journal of the Portuguese Society of Dermatology and Venereology; Vol 79 No 4 (2021): October-December; 373-376
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, most