Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Francisco Javier Michel"'
Autor:
Myriam Calle Rubio, José Luis López-Campos, Marc Miravitlles, Francisco Javier Michel de la Rosa, José María Hernández Pérez, Carmen Montero Martínez, José Bruno Montoro Ronsano, Francisco Casas Maldonado, Juan Luis Rodríguez Hermosa, Eva María Tabernero Huguet, José Manuel Martínez Sesmero, Carlos Martínez Rivera, Francisco Javier Callejas González, María Torres Durán
Publikováno v:
BMC Health Services Research, Vol 23, Iss 1, Pp 1-8 (2023)
Abstract Background Patients with alpha-1 antitrypsin deficiency (AATD), commonly categorized as a rare disease, have been affected by the changes in healthcare management brought about by COVID-19. This study’s aim was to identify the changes that
Externí odkaz:
https://doaj.org/article/429bc7d19eca4b2496fe4ad37649380f
Akademický článek
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Autor:
María Torres-Durán, Francisco Rodriguez-Frias, José Andrés Moreno Pérez, Nerea Matamala, Beatriz Baladron, Beatriz Martinez-Delgado, Raquel Saez, Pavel Strnad, Jose María Hernández-Pérez, Irene Belmonte, Gema Gomez-Mariano, Sabina Janciauskiene, Ignacio Blanco, Francisco Javier Michel
Publikováno v:
American Journal of Respiratory Cell and Molecular Biology. 63:444-451
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced levels of serum AAT due to mutations in the SERPINA1 (Serpin family A member 1) gene. The Pi*S (Glu264Val) is one of the most frequent deficient alleles of AATD,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16f25824b7cd6df0e188a0076d7eb127
https://doi.org/10.1165/rcmb.2020-0021oc
https://doi.org/10.1165/rcmb.2020-0021oc
Autor:
María Torres-Durán, Beatriz Lara, José Mª Hernández-Pérez, Sergio Cadenas, M. I. Martínez, Gema Gomez-Mariano, Marc Miravitlles, Francisco Casas, Esther Rodríguez, Nerea Matamala, Francisco Javier Michel, Lourdes Lázaro, Cristina Esquinas, Ana Bustamante, Silvia Castillo, Ines Herrero, Selene Martínez, Antonio Muñoz-Callejas, Ignacio Blanco, Irene Vázquez-Domínguez, Álvaro Otero-Sobrino, Sergio Curi, Elena Vanessa Martínez Sánchez, Beatriz Martinez-Delgado
Publikováno v:
ARCHIVOS DE BRONCONEUMOLOGIA
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
INTRODUCTION: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition resulting in lung and liver disease with a great clinical variability. MicroRNAs have been identified as disease modifiers; therefore miRNA deregulation could play an importan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae828ef88e0abf2954bd97dd05b1fa6
https://www.fundanet.incliva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15592
https://www.fundanet.incliva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15592
Autor:
María Torres-Durán, Jose María Hernández-Pérez, Irene Belmonte, Sabina Janciauskiene, Nerea Matamala, Beatriz Baladron, Gema Gomez-Mariano, Raquel Saez, Pavel Strnad, Francisco Javier Michel, Ignacio Blanco, José Andrés Moreno Pérez, Francisco Rodriguez-Frias, Beatriz Martinez-Delgado
Publikováno v:
Molecular pathology and funct. genomics.
Alpha-1 Antitrypsin deficiency (AATD) is an inherited condition characterized by reduced levels of serum AAT due to mutations in SERPINA1 gene. Together, PiZ (Glu342Lys) and the PiS (Glu264Val) are the most frequent deficient alleles of AATD and redu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ae780c336eea4ed138147a862407197
https://doi.org/10.1183/13993003.congress-2020.2719
https://doi.org/10.1183/13993003.congress-2020.2719
Autor:
Nerea, Matamala, Gema, Gomez-Mariano, Jose Antonio, Perez, Beatriz, Baladrón, María, Torres-Durán, Francisco Javier, Michel, Raquel, Saez, Jose María, Hernández-Pérez, Irene, Belmonte, Francisco, Rodriguez-Frias, Ignacio, Blanco, Pavel, Strnad, Sabina, Janciauskiene, Beatriz, Martinez-Delgado
Publikováno v:
American journal of respiratory cell and molecular biology. 63(4)
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced levels of serum AAT due to mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::adb7823a896e25b2c52193229365a452
https://pubmed.ncbi.nlm.nih.gov/32716630
https://pubmed.ncbi.nlm.nih.gov/32716630
Autor:
Ignacio Blanco, Sergio Curi, Francisco Rodriguez-Frias, Cristina Esquinas, Sergio Cadenas, Ines Herrero, José Alberto Muños Hernández, M. I. Martínez, Francisco Javier Michel, Marc Miravitlles, Francisco Casas, Beatriz Lara, Beatriz Martinez-Delgado, Amparo Escribano, Francisco Dasí, Esther Rodríguez, Ana Bustamante, María E. Torres, Lourdes Lázaro
Publikováno v:
Archivos de Bronconeumología (English Edition). 53:13-18
Introduction and Objective REDAAT, the Spanish Registry of Patients with Alpha-1 Antitrypsin Deficiency, was set up in order to improve knowledge of this disease. This study is an evaluation of the registry and an analysis of its patient population.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::130520308a447d92fa91b8ed83892164
https://doi.org/10.1016/j.arbr.2016.11.013
https://doi.org/10.1016/j.arbr.2016.11.013
Autor:
Cristina Esquinas, Francisco Dasí, José Alberto Muños Hernández, Esther Rodríguez, Sergio Curi, Ignacio Blanco, Beatriz Martinez-Delgado, Amparo Escribano, Ana Bustamante, Francisco Rodriguez-Frias, Ines Herrero, María E. Torres, Beatriz Lara, M. I. Martínez, Lourdes Lázaro, Francisco Javier Michel, Marc Miravitlles, Francisco Casas, Sergio Cadenas
Publikováno v:
Archivos de Bronconeumología. 53:13-18
Resumen Introduccion y objetivo El Registro espanol de pacientes con deficit de alfa-1 antitripsina (REDAAT) se formo con el objetivo de mejorar el conocimiento sobre del DAAT. En este trabajo se evalua el registro y se analiza la poblacion de pacien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4adf4a428b846bb8c21c43cf4d61c647
https://doi.org/10.1016/j.arbres.2016.05.003
https://doi.org/10.1016/j.arbres.2016.05.003
Autor:
M. I. Martínez, Lourdes Lázaro, Beatriz Lara, Sergio Curi, Nerea Matamala, Beatriz Martinez-Delgado, Esther Rodríguez, Gema Gomez-Mariano, Marc Miravitlles, Silvia Castillo Castillo, Cristina Esquinas, Ana Bustamante, Francisco Javier Michel, Ignacio Blanco, Sergio Cadenas, Selene Martínez, Francisco Casas
Publikováno v:
Molecular Pathology and Functional Genomics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c431f8de6d34b853106d2a87d71231ae
https://doi.org/10.1183/1393003.congress-2017.pa970
https://doi.org/10.1183/1393003.congress-2017.pa970