Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Laura Pena-Couso"'
Autor:
Laura Pena-Couso, María Ercibengoa, Fátima Mercadillo, David Gómez-Sánchez, Lucía Inglada-Pérez, María Santos, Javier Lanillos, David Gutiérrez-Abad, Almudena Hernández, Pablo Carbonell, Rocío Letón, Mercedes Robledo, Cristina Rodríguez-Antona, José Perea, Miguel Urioste, PHTS Working Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify ne
Externí odkaz:
https://doaj.org/article/74028b0952a2495887a38ec95f063b00
Autor:
Miguel Urioste, Rocío Letón, Fátima Mercadillo, Maria José Santos, Laura Pena-Couso, Pablo Carbonell, David Gutiérrez-Abad, José Perea, Javier Lanillos, María Ercibengoa, Mercedes Robledo, Almudena Hernández, David Gomez-Sanchez, Cristina Rodríguez-Antona, Lucía Inglada-Pérez
Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::036e02bcf3ae43d913726698af6f89ea
https://doi.org/10.21203/rs.3.rs-675624/v1
https://doi.org/10.21203/rs.3.rs-675624/v1
Autor:
Antonio Sánchez-Ruiz, Soraia Melo, Laura Pena-Couso, Fátima Mercadillo, Miguel Urioste, Joana Figueiredo, José Perea, Luis Robles, Joao Sanches, Raquel Seruca
Publikováno v:
European Journal of Human Genetics. 26:1348-1353
Germline changes in the CDH1 tumor suppressor gene predispose to diffuse gastric cancer and lobular breast cancer. In carriers of deleterious germline CDH1 variants, prophylactic gastrectomy is recommended. In case of germline missense variants, it i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2c12b1fd355360fad100e44b8d88291
https://doi.org/10.1038/s41431-018-0173-8
https://doi.org/10.1038/s41431-018-0173-8
Autor:
Daniel Rueda, Juan Luis García, José Perea, Miguel Urioste, Susana Olmedillas-López, Yolanda Rodríguez, Sandra Tapial, Jessica Pérez, Rocío Olivera, Laura Pena-Couso, María Arriba, Alfredo Vivas, Rogelio González-Sarmiento, Mariano García-Arranz, Damián García-Olmo, Ajay Goel
Publikováno v:
Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
instname
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
instname
Biblos-e Archivo. Repositorio Institucional de la UAM
© The Author(s) 2019.
Colorectal cancer (CRC) with CpG island methylator phenotype (CIMP) is recognized as a subgroup of CRC that shows association with particular genetic defects and patient outcomes. We analyzed CIMP status of 229 individuals
Colorectal cancer (CRC) with CpG island methylator phenotype (CIMP) is recognized as a subgroup of CRC that shows association with particular genetic defects and patient outcomes. We analyzed CIMP status of 229 individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d488cd0a2dbb62edf86d6ac0dc98ccb8
https://hdl.handle.net/20.500.12105/8206
https://hdl.handle.net/20.500.12105/8206
Publikováno v:
Clinical and Translational Gastroenterology
Introduction Not all patients with hereditary diffuse gastric cancer (HDGC) are found to carry germline pathogenic variants in the associated gene CDH1, which translates into a challenging clinical management and poor cancer prevention. Thus, several
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::286692a5f47be2b7ebb1ca7a7c61be06
https://doi.org/10.14309/ctg.0000000000000280
https://doi.org/10.14309/ctg.0000000000000280