Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Pablo Gargallo"'
Autor:
Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, Valentina Vélez-Santamaria, Laura Rausell, Pablo Gargallo, Javier Garcia-Planells, Pedro Alía, Núria Llecha, Ariadna Padró-Miquel
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)
Abstract Background Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frataxin protein levels
Externí odkaz:
https://doaj.org/article/74f76043e3574e97921cb373b5339ff2
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:
Andrea Urtasun, Gladys G. Olivera, Luis Sendra, Salvador F. Aliño, Pablo Berlanga, Pablo Gargallo, David Hervás, Julia Balaguer, Antonio Juan-Ribelles, María del Mar Andrés, Adela Cañete, María José Herrero
Publikováno v:
Cancers, Vol 15, Iss 5, p 1424 (2023)
Background: Pharmacogenetics is a personalized medicine tool that aims to optimize treatments by adapting them to each individual’s genetics, maximizing their efficacy while minimizing their toxicity. Infants with cancer are especially vulnerable,
Externí odkaz:
https://doaj.org/article/6b4044fc3f064f83a27c881d8e61f0f7
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
Autor:
Pablo Gargallo, Merche Molero, Cristina Bilbao, Ruth Stuckey, Estrella Carrillo-Cruz, Lourdes Hermosín, Olga Pérez-López, Antonio Jiménez-Velasco, Elena Soria, Marián Lázaro, Paula Carbonell, Yania Yáñez, Iria Gómez, Marta Izquierdo-García, Jennifer Valero-García, Carlos Ruiz, Esperanza Such, Inés Calabria
Publikováno v:
Cancers, Vol 14, Iss 8, p 1986 (2022)
A suitable diagnostic classification of myeloid neoplasms and acute leukemias requires testing for a large number of molecular biomarkers. Next-generation sequencing is a technology able to integrate identification of the vast majority of them in a s
Externí odkaz:
https://doaj.org/article/14c892d715234f84a29b9fedd5f91584
Autor:
María Molina Corbacho, Fernando Martín Birlanga, Nerea Sarrión Sos, Pablo Gargallo Tatay, Miguel Tomás Vila
Publikováno v:
Anales de Pediatría, Vol 90, Iss 3, Pp 188-190 (2019)
Externí odkaz:
https://doaj.org/article/d1b8b09d765b42c8a3fc1556ab1f7c76
Autor:
María Molina Corbacho, Fernando Martín Birlanga, Nerea Sarrión Sos, Pablo Gargallo Tatay, Miguel Tomás Vila
Publikováno v:
Anales de Pediatría (English Edition), Vol 90, Iss 3, Pp 188-190 (2019)
Externí odkaz:
https://doaj.org/article/4cce99f83d124fe586047b8b19de7d47
Autor:
Pablo Gargallo, Silvestre Oltra, Yania Yáñez, Antonio Juan-Ribelles, Inés Calabria, Vanessa Segura, Marián Lázaro, Julia Balaguer, Teresa Tormo, Sandra Dolz, José María Fernández, Carolina Fuentes, Bárbara Torres, Mara Andrés, María Tasso, Victoria Castel, Jaime Font de Mora, Adela Cañete
Publikováno v:
Cancers, Vol 13, Iss 21, 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
Externí odkaz:
https://doaj.org/article/a7f124bedf9f4451910c25d01f1eed0f
Autor:
Gladys G. Olivera, Andrea Urtasun, Luis Sendra, Salvador F. Aliño, Yania Yáñez, Vanessa Segura, Pablo Gargallo, Pablo Berlanga, Victoria Castel, Adela Cañete, María José Herrero
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 18, p 9815 (2021)
Pharmacogenetics is one of the cornerstones of Personalized Precision Medicine that needs to be implemented in the routine of our patients’ clinical management in order to tailor their therapies as much as possible, with the aim of maximizing effic
Externí odkaz:
https://doaj.org/article/a9d908f604834a96b61ab68f587d52cc
Autor:
Antonio Juan Ribelles, Pablo Gargallo, Pablo Berlanga, Vanessa Segura, Yania Yáñez, Bárbara Juan, Marta Salom, Margarita Llavador, Jaime Font de Mora, Victoria Castel, Adela Cañete
Publikováno v:
Journal of Personalized Medicine, Vol 11, Iss 4, p 268 (2021)
Background: Bone and soft-tissue sarcomas represent 13% of all paediatric malignancies. International contributions to introduce next-generation sequencing (NGS) approaches into clinical application are currently developing. We present the results fr
Externí odkaz:
https://doaj.org/article/7766472dd96248638860e5f878e43c7e