Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Vanessa Segura"'
Autor:
Pablo Gargallo, Silvestre Oltra, Julia Balaguer, Honorio Barranco, Yania Yáñez, Vanessa Segura, Antonio Juan-Ribelles, Inés Calabria, Margarita Llavador, Victoria Castel, Adela Cañete
Publikováno v:
International Journal of Retina and Vitreous, Vol 7, Iss 1, Pp 1-6 (2021)
Abstract Background Patients with 13q-syndrome are at risk of retinoblastoma when the RB1 gene, located in the chromosomal band 13q14.2, is deleted. This syndrome is frequently associated with congenital malformations and developmental delay, althoug
Externí odkaz:
https://doaj.org/article/4854e37913d24021b79989892874bb73
Autor:
Pablo Gargallo, Jaime Font de Mora, Pablo Berlanga, Inés Calabria, Margarita Llavador, Laia Pedrola, Joaquín Panadero, Sandra Dolz, Ángel Zúñiga, Juan Silvestre Oltra, Paloma Escobar, Yania Yáñez, María José Aparisi, Marina Martinez-Matilla, Vanessa Segura, Carlos Esquembre, María Del Cañizo, María José Moreno, Catalina Márquez, Adela Cañete, Victoria Castel
Publikováno v:
Translational Medicine Communications, Vol 4, Iss 1, Pp 1-11 (2019)
Abstract Background Understanding pediatric cancer biology is a huge challenge in continuous development that is currently being implemented into the clinical practice thanks to the new high throughput technologies integrated by personalized medicine
Externí odkaz:
https://doaj.org/article/450f5e23d5b04eedb8440b7f871920b8
Publikováno v:
Anales de Pediatría, Vol 90, Iss 1, Pp 54-55 (2019)
Externí odkaz:
https://doaj.org/article/e6965b0b93074314b3a16b48793bc0fc
Publikováno v:
Anales de Pediatría (English Edition), Vol 90, Iss 1, Pp 54-55 (2019)
Externí odkaz:
https://doaj.org/article/e8bbb3a6c16b47b68093cc66c4e3d25a
Autor:
Vanessa Segura, Miguel Pérez-Aso, Fermí Montó, Elena Carceller, María Antonia Noguera, John Pediani, Graeme Milligan, Ian Christie McGrath, Pilar D'Ocon
Publikováno v:
PLoS ONE, Vol 8, Iss 5, p e64996 (2013)
AIMS: To compare the constitutive and agonist-dependent endosomal trafficking of α(1A)- and α(1B)-adrenoceptors (ARs) and to establish if the internalization pattern determines the signaling pathways of each subtype. METHODS: Using CypHer5 technolo
Externí odkaz:
https://doaj.org/article/18a98db5f7dc479da6aaa518089cf63d
Autor:
Pablo Gargallo, Silvestre Oltra, María Tasso, Julia Balaguer, Yania Yáñez, Sandra Dolz, Inés Calabria, Francisco Martínez, Vanessa Segura, Antonio Juan-Ribelles, Margarita Llavador, Victoria Castel, Adela Cañete, Jaime Font de Mora
Publikováno v:
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
CTCF germline mutations have been related to MRD21. We report the first bilateral Wilms tumor suffered by a MRD21 patient carrying an unreported CTCF missense variant in a zinc finger domain of CTCF protein. We found that germline heterozygous varian
Autor:
Adriana Bogantes Cabezas, Raquel Cascante Herrera, María Gabriela Fonseca Rojas, Grettel Yessenia Rodríguez Artavia, Katia Vanessa Segura Hernández
Publikováno v:
Actualidades Investigativas en Educación, Vol 17, Iss 1 (2017)
La orientación comunitaria es uno de los ámbitos menos desarrollado en Costa Rica. A partir de algunas necesidades latentes en las comunidades como: drogadicción, abandono escolar y violencia, así como la disciplina, se desarrolló esta investiga
Externí odkaz:
https://doaj.org/article/c0382a6da4c74299909db5aed8f9d83c
Publikováno v:
Strategic Design Research Journal. 13:460-473
This qualitative-interpretive study reflects on the experience of two MSMEs that adapted rapidly to meet the need for protection products and maintain their production in the midst of confinement decreed by the city and country authorities, as a cont
Autor:
Silvestre Oltra, Carolina Fuentes, Marián Lázaro, Barbara Torres, Yania Yáñez, Teresa Tormo, Vanessa Segura, Victoria Castel, Sandra Dolz, Jaime Font de Mora, María Tasso, José María Fernández, Julia Balaguer, Inés Calabria, Mara Andrés, Pablo Gargallo, Adela Cañete, Antonio Juan-Ribelles
Publikováno v:
Cancers
Volume 13
Issue 21
Gargallo, Pablo Oltra Soler, Juan Silvestre Yáñez Peralta, Yania Juan Ribelles, Antonio Calabria, Inés Segura, Vanessa Lázaro, Marián Balaguer Guill, Julia Tormo, Teresa Dolz, Sandra Fernández, José María Fuentes, Carolina Torres, Bárbara Andrés, Mara Tasso, María Castel Sánchez, Victoria Font de Mora Saínz, Jaime Cañete Nieto, Adela 2021 Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care Cancers 13 21 5339
RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname
Cancers, Vol 13, Iss 5339, p 5339 (2021)
Volume 13
Issue 21
Gargallo, Pablo Oltra Soler, Juan Silvestre Yáñez Peralta, Yania Juan Ribelles, Antonio Calabria, Inés Segura, Vanessa Lázaro, Marián Balaguer Guill, Julia Tormo, Teresa Dolz, Sandra Fernández, José María Fuentes, Carolina Torres, Bárbara Andrés, Mara Tasso, María Castel Sánchez, Victoria Font de Mora Saínz, Jaime Cañete Nieto, Adela 2021 Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care Cancers 13 21 5339
RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname
Cancers, Vol 13, Iss 5339, p 5339 (2021)
Knowledge about genetic predisposition to pediatric cancer is constantly expanding. The categorization and clinical management of the best-known syndromes has been refined over the years. Meanwhile, new genes for pediatric cancer susceptibility are d
Autor:
Yania Yáñez, Julia Balaguer, Adela Cañete, Vanessa Segura, Silvestre Oltra, Barbara Torres, Pablo Gargallo, A. Juan, Victoria Castel
Publikováno v:
Clinical and Translational Oncology. 22:978-988
Clinical variability is commonly seen in Li-Fraumeni syndrome. Phenotypic heterogeneity is present among different families affected by the same pathogenic variant in TP53 gene and among members of the same family. However, causes of this huge clinic