Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Patricia C. Pruneda"'
Autor:
Natalia Martínez-Pomar, Vanesa Cunill, Marina Segura-Guerrero, Elisabet Pol-Pol, Danilo Escobar Oblitas, Jaime Pons, Ignacio Ayestarán, Patricia C. Pruneda, Inés Losada, Nuria Toledo-Pons, Mercedes García Gasalla, Joana Maria Ferrer Balaguer
Publikováno v:
Biomedicines, Vol 11, Iss 9, p 2548 (2023)
The hyperinflammatory response caused by SARS-CoV-2 infection contributes to its severity, and many critically ill patients show features of cytokine storm (CS) syndrome. We investigated, by next-generation sequencing, 24 causative genes of primary i
Externí odkaz:
https://doaj.org/article/3ebc29bcdc924933843a4a2ed7708723
Autor:
Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-17 (2018)
Abstract Background Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of targ
Externí odkaz:
https://doaj.org/article/349bbb0f700a431083cd99f349786e3a
Autor:
Andrea Otero, Beatriz Fernández-Vega, Inés Hernando, Raquel Capín, David Castillo, Mónica Viejo-Díaz, Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, Adrián Santiago, Gonzalo R. Ordóñez, Patricia C. Pruneda, Juan Cadiñanos, Eva Villota, Claudia G. Lago, Álvaro Fernández-Vega, Noelia S. Durán, Rebeca Álvarez
Publikováno v:
Acta Ophthalmologica
Purpose In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the etiologic diagnosis of potentially hereditary vision loss and its impact on clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::860382c19d00a028b0550fd0c4e3cf26
https://pubmed.ncbi.nlm.nih.gov/32483926
https://pubmed.ncbi.nlm.nih.gov/32483926
Autor:
Guadalupe A. Cifuentes, Cristina Penas, Álvaro de Vicente, Marta Diñeiro, Patricia C. Pruneda, Juan Cadiñanos, Gonzalo R. Ordóñez, Noelia S. Durán, David Castillo, Rubén Cabanillas, Rebeca Álvarez
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Next-generation sequencing (NGS) opens new options in clinical oncology, from therapy selection to genetic counseling. However, realization of this potential not only requires succeeding in the bioinformatics and interpretation of the resu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6744e9bbd94d080ecbd2321e0c8ec36f
http://europepmc.org/articles/PMC5511795
http://europepmc.org/articles/PMC5511795
Autor:
Carlos López-Larrea, María Jesús Cañal, Marija Dmitrijeva, Jesús Vallejo-Díaz, Anne K. Voss, Patricia C Pruneda, Inmaculada Hernández-López, Beatriz Suarez-Alvarez, Núria Sima-Teruel, Tim Thomas, María Begoña González García, Raúl F. Pérez, Virginia Lopez, Rainer Deutzmann, Teresa Bernal, Ana Villar-Garea, Marta I. Sierra, Antonella Carella, Ana C. Carrera, Daniel Rico, Osvaldo Graña-Castro, Alejandra Sanjuan-Pla, Elena Diaconu, Cristina Mangas, Cecilia Ferrero, Mario F. Fraga, Ana Pando-Sandoval, Pablo Santamarina, Laura Santos, Luis Valledor, David G. Pisano, Clara Bueno, Cristina Prieto, Cristina Bravo, Alejandro Vaquero, Juan Luis Fernández-Morera, María-Dolores Chiara, Francisco Rodríguez, Gustavo F. Bayón, Estela García-Toraño, Agustín F. Fernández, Ana Salas, Thalia Belmonte, Rafael Diaz de la Guardia, Juan Ramón Tejedor, Edward Seto, Milagros Balbín, Enrique Colado, Inés Sáenz-de-Santa-María, Rocío G. Urdinguio, Amparo Vayá, Luis Rodrigo, Pablo Menendez, Olivia García-Suárez, José M Ricart, Ramon M. Rodriguez
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Scopus
Nucleic Acids Research
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
RUO. Repositorio Institucional de la Universidad de Oviedo
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Repisalud
Instituto de Salud Carlos III (ISCIII)
Digital.CSIC. Repositorio Institucional del CSIC
NUCLEIC ACIDS RESEARCH
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Universidad de Barcelona
Scopus
Nucleic Acids Research
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
RUO. Repositorio Institucional de la Universidad de Oviedo
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Repisalud
Instituto de Salud Carlos III (ISCIII)
Digital.CSIC. Repositorio Institucional del CSIC
NUCLEIC ACIDS RESEARCH
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Histone H4 acetylation at Lysine 16 (H4K16ac) is a key epigenetic mark involved in gene regulation, DNA repair and chromatin remodeling, and though it is known to be essential for embryonic development, its role during adult life is still poorly unde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee781ba1d7bf3975d5365c81edeecf72
http://hdl.handle.net/2445/174855
http://hdl.handle.net/2445/174855
Autor:
Alfredo Repáraz-Andrade, María Isidoro-García, Noelia García-González, Mónica Viejo-Díaz, Ana Plasencia, Cristina Torreira-Banzas, Faustino Núñez-Batalla, Nancy Govea, Rebeca Álvarez, María Costales, Gonzalo R. Ordóñez, Noelia Sánchez-Durán, Marta Diñeiro, Raquel Capín, David Castillo, Justo R. Gómez-Martínez, Patricia C. Pruneda, Juan Cadiñanos, Jordi Rosell, Ángel Mazón-Gutiérrez, Belén García-Berrocal, José Luis Llorente, Inés Hernando, José Antonio Garrote, Rubén Cabanillas, Guadalupe A. Cifuentes
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-17 (2018)
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-17 (2018)
Background: Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of target genom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00944c691e692906bdbc488fb1deab92
https://hdl.handle.net/20.500.13003/9217
https://hdl.handle.net/20.500.13003/9217
Autor:
Raquel Capín, David Castillo, Marta Diñeiro, Rubén Cabanillas, Guadalupe A. Cifuentes, Patricia C. Pruneda, Juan Cadiñanos, Andrea Otero, Gonzalo R. Ordóñez, Adrián Santiago
Publikováno v:
European Journal of Human Genetics. 28:401-402
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37b1b7153d958a881c0841b9272f797e
https://doi.org/10.1038/s41431-019-0502-6
https://doi.org/10.1038/s41431-019-0502-6