Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Beatriz Sánchez Heras"'
Autor:
Ana Beatriz Sánchez-Heras, Estela Dámaso, Adela Castillejo, Mercedes Robledo, Alexandre Teulé, Conxi Lázaro, Rosario Sánchez-Martínez, Ángel Zúñiga, Adrià López-Fernández, Judith Balmaña, Luis Robles, Teresa Ramon y Cajal, M. Isabel Castillejo, Raquel Perea Ibañez, Carmen Martínez Sevila, Andrea Sánchez-Mira, Inés Escandell, Luís Gómez, Pere Berbel, José Luis Soto
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Background Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant hereditary syndrome. Previously, we published the largest cohort of FH mutation carriers in Spain and observed a highly recurrent missense heter
Externí odkaz:
https://doaj.org/article/070bf76381b143af84d1c37cc2907316
Autor:
Rosario Ferrer‐Avargues, María Isabel Castillejo, Estela Dámaso, Virginia Díez‐Obrero, Noemí Garrigos, Tatiana Molina, Alan Codoñer‐Alejos, Ángel Segura, Ana Beatriz Sánchez‐Heras, Adela Castillejo, José Luis Soto
Publikováno v:
Cancer Communications, Vol 41, Iss 3, Pp 218-228 (2021)
Abstract Background Lynch syndrome (LS) is a hereditary condition characterized by a high risk of colorectal cancer, endometrial cancer, and other neoplasia associated with germline alterations in DNA mismatch repair genes. The classical genetic diag
Externí odkaz:
https://doaj.org/article/1ecd637319c94345af1605f294d9face
Autor:
López-Guerrero, Antonio Fernández-Serra, Raquel López-Reig, Raúl Márquez, Alejandro Gallego, Luís Miguel de Sande, Alfonso Yubero, Cristina Pérez-Segura, Avinash Ramchandani-Vaswani, María Pilar Barretina-Ginesta, Elsa Mendizábal, Carmen Esteban, Fernando Gálvez, Ana Beatriz Sánchez-Heras, Eva María Guerra-Alía, Lydia Gaba, María Quindós, Isabel Palacio, Jesús Alarcón, Ana Oaknin, Jessica Aliaga, Marta Ramírez-Calvo, Zaida García-Casado, Ignacio Romero, José Antonio
Publikováno v:
Cancers; Volume 15; Issue 11; Pages: 3030
Genomic Instability (GI) is a transversal phenomenon shared by several tumor types that provide both prognostic and predictive information. In the context of high-grade serous ovarian cancer (HGSOC), response to DNA-damaging agents such as platinum-b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::e6ee5de961026e84a89963d7db80f75b
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Asunción Ojeda Gómez, María Isabel Pamies Ramón, María Dolores Picó Sala, Beatriz Sánchez Heras, María Cabezas Macian, Alicia Brotons Brotons, Javier Sola Vera Sánchez
Publikováno v:
Gastroenterología y Hepatología.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4092c4c661dae9b60cbd2a9bf50f888
https://doi.org/10.1016/j.gastrohep.2022.12.012
https://doi.org/10.1016/j.gastrohep.2022.12.012
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Maria A. Andrianova, Vladimir B. Seplyarskiy, Mariona Terradas, Ana Beatriz Sánchez-Heras, Pilar Mur, José Luis Soto, Gemma Aiza, Fyodor A. Kondrashov, Alexey S. Kondrashov, Georgii A. Bazykin, Laura Valle
Mutational processes in germline and in somatic cells are vastly different, and it remains unclear how the same genetic background affects somatic and transmissible mutations. Here, we estimate the impact of an inherited pathogenic variant in the exo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ce83e8aeb71867149a9e71e0219f1408
https://doi.org/10.1101/2022.07.20.500591
https://doi.org/10.1101/2022.07.20.500591
Autor:
Rafael Morales Chamorro, Isabel Chirivella González, Gemma Llort Pursals, Ana Beatriz Sánchez Heras, Raquel Serrano Blanch, Alexandre Teule Vega, Carmen Guillén Ponce, Begoña Graña Suárez
Publikováno v:
Arbor: Ciencia, Pensamiento y Cultura, Vol 191, Iss 773, Pp a238-a238 (2015)
La mayoría de los casos de cáncer son esporádicos, entre un 20-30% presentan agregación familiar, mientras que solo el 5 -10% son de carácter hereditario. Las familias e individuos en los que se sospecha que padecen cáncer hereditario deben som
Externí odkaz:
https://doaj.org/article/1107912a5074461987dd27b19bfb63dc
Autor:
Inmaculada de Juan Jiménez, Eduardo Martinez-Dueńas, Maria Fonfria, Ana Beatriz Sánchez-Heras, Isabel Chirivella, Paula Richart-Aznar, Ángel Segura, Isabel Tena
Publikováno v:
Journal of Personalized Medicine
Volume 11
Issue 6
Journal of Personalized Medicine, Vol 11, Iss 548, p 548 (2021)
Volume 11
Issue 6
Journal of Personalized Medicine, Vol 11, Iss 548, p 548 (2021)
(1) Background: Over the last decade, genetic counseling clinics have moved from single-gene sequencing to multigene panel sequencing. Multiple genes related to a moderate risk of breast cancer (BC) have emerged, although many questions remain regard
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d6103b672a55b2158d0c6735edf44ca
Autor:
Francisco J, Pelegrín-Mateo, Elena, Seguí-Moya, Marian, Fernández-Cruz, Alejandro, García-Seguí, Ernesto, De Nova-Sánchez, Ana Beatriz, Sánchez-Heras
Publikováno v:
Archivos espanoles de urologia. 74(4)
Description of two incidental cases of bladder paraganglioma in women and review of the published literature.A bibliographic search was carried out in Medline over the last 10 years according to the terms "urinary bladder" and "paraganglioma".Bladder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1cd2f39d658dd8ff2723757b3ca0de61
https://pubmed.ncbi.nlm.nih.gov/33942738
https://pubmed.ncbi.nlm.nih.gov/33942738