Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Alba Torrent Vernetta"'
Publikováno v:
REC: Interventional Cardiology (English Ed.), Vol 5, Iss 4, Pp 304-305 (2023)
To the Editor, Despite recent improvements in the management of pediatric pulmonary hypertension (PH) and reduced overall mortality rates due to pathway-targeted therapy, there is currently no cure for most patients, and morbimortality remains high w
Externí odkaz:
https://doaj.org/article/439ffbf95d344c54aa8a6d5fa2cd45e4
Publikováno v:
REC: Interventional Cardiology, Vol 5, Iss 4, Pp 304-305 (2023)
Sr. Editor: A pesar de las mejoras recientes que ha experimentado el abordaje y tratamiento de la hipertensión pulmonar (HP) pediátrica y el descenso de los índices de mortalidad global gracias a las terapias dirigidas a vías específicas, en la
Externí odkaz:
https://doaj.org/article/ab07565d91844ccca7063264f3a52bd9
Autor:
Alejandro Cruz-Utrilla, Natalia Gallego-Zazo, Jair Antonio Tenorio-Castaño, Inmaculada Guillén, Alba Torrent-Vernetta, Amparo Moya-Bonora, Carlos Labrandero, María Elvira Garrido-Lestache Rodríguez-Monte, Alejandro Rodríguez-Ogando, María del Mar Rodríguez Vázquez Del Rey, Juana Espín, Beatriz Plata-Izquierdo, María Álvarez-Fuente, Antonio Moreno-Galdó, Pilar Escribano-Subias, María Jesús Del Cerro Marín
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 18, p 10433 (2022)
Background: Pulmonary arterial hypertension (PAH) is a severe and rare disease with an important genetic background. The influence of genetic testing in the clinical classification of pediatric PAH is not well known and genetics could influence manag
Externí odkaz:
https://doaj.org/article/0b00898b6d424a2d8b005299fac1ac6a
Autor:
Yang Li, Elias Seidl, Katrin Knoflach, Florian Gothe, Maria Elisabeth Forstner, Katarzyna Michel, Ingo Pawlita, Florian Gesenhues, Franziska Sattler, Xiaohua Yang, Carolin Kroener, Simone Reu-Hofer, Julia Ley-Zaporozhan, Birgit Kammer, Ingrid Krüger-Stollfuß, Julien Dinkel, Julia Carlens, Martin Wetzke, Antonio Moreno-Galdó, Alba Torrent-Vernetta, Joanna Lange, Katarzyna Krenke, Nisreen Rumman, Sarah Mayell, Tugba Sismanlar, Ayse Aslan, Nicolas Regamey, Marijke Proesmans, Florian Stehling, Lutz Naehrlich, Kilinc Ayse, Sebastian Becker, Cordula Koerner-Rettberg, Erika Plattner, Effrosyni D Manali, Spyridon A Papiris, Ilaria Campo, Matthias Kappler, Nicolaus Schwerk, Matthias Griese
BackgroundThe majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop severe respiratory insufficiency within their first year of life and succum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345af061d5d8a30e301c537e2228edc6
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/23188
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/23188
Autor:
Alejandro Cruz-Utrilla, Natalia Gallego, Alba Torrent-Vernetta, Inmaculada Guillén, María Pilar Escribano Subias, María Jesús del Cerro Marín
Publikováno v:
Revista Española de Cardiología (English Edition). 75:448-450
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e696d79047f0a1a5866e987482891ec4
https://doi.org/10.1016/j.rec.2021.12.006
https://doi.org/10.1016/j.rec.2021.12.006
Autor:
Florent Delhommel, Michael Gerstlauer, Maximilian Hastreiter, Maria Forstner, Meino Rohlfs, Tim Jeske, Christina K Rapp, Alba Torrent-Vernetta, Antonio Moreno-Galdó, Birgit Kammer, Nagehan Emiralioglu, Marisa I. Mendes, Yang Li, Michael Sattler, Desirée E.C. Smith, Diclehan Orhan, Matthias Griese, Luise A. Schuch, Frank Brasch, Nural Kiper, Simone Reu-Hofer, Ekim Z. Taskiran
Publikováno v:
Clinical Genetics, 99(6), 789-801. Wiley-Blackwell
Schuch, L A, Forstner, M, Rapp, C K, Li, Y, Smith, D E C, Mendes, M I, Delhommel, F, Sattler, M, Emiralioğlu, N, Taskiran, E Z, Orhan, D, Kiper, N, Rohlfs, M, Jeske, T, Hastreiter, M, Gerstlauer, M, Torrent-Vernetta, A, Moreno-Galdó, A, Kammer, B, Brasch, F, Reu-Hofer, S & Griese, M 2021, ' FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes : Look beyond the lungs! ', Clinical Genetics, vol. 99, no. 6, pp. 789-801 . https://doi.org/10.1111/cge.13943
Schuch, L A, Forstner, M, Rapp, C K, Li, Y, Smith, D E C, Mendes, M I, Delhommel, F, Sattler, M, Emiralioğlu, N, Taskiran, E Z, Orhan, D, Kiper, N, Rohlfs, M, Jeske, T, Hastreiter, M, Gerstlauer, M, Torrent-Vernetta, A, Moreno-Galdó, A, Kammer, B, Brasch, F, Reu-Hofer, S & Griese, M 2021, ' FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes : Look beyond the lungs! ', Clinical Genetics, vol. 99, no. 6, pp. 789-801 . https://doi.org/10.1111/cge.13943
Aminoacyl-tRNA synthetases (ARSs) catalyze the first step of protein biosynthesis (canonical function) and have additional (non-canonical) functions outside of translation. Bi-allelic pathogenic variants in genes encoding ARSs are associated with var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5fab26fa1d0a162b6e323085ef2387
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85101856190&origin=inward
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85101856190&origin=inward
Autor:
Ignacio Iglesias Serrano, María Cols Roig, Rosanel Amaro-Rodríguez, Amparo Escribano, Marta Garrido-Pontnou, Mónica Fernández-Cancio, Esther Amengual Pieras, Eduardo F. Tizzano, Silvia Gartner, Carlos Martín de Vicente, Ana Reula, Francisco Dasí, Eva Polverino, M. Araceli Caballero-Rabasco, Inés de Mir Messa, María del Mar Martínez-Colls, Gerardo Vizmanos-Lamotte, Antonio Moreno-Galdó, Núria Camats-Tarruella, Elena García Arumí, Óscar Asensio de la Cruz, Silvia Castillo-Corullón, Miguel Armengot-Carceller, Noelia Baz-Redón, Ida Paramonov, Alba Torrent-Vernetta, María Antolín, Sandra Rovira-Amigo
Publikováno v:
Archivos de Bronconeumología. 57:186-194
Resumen Introduccion La discinesia ciliar primaria (DCP) es una enfermedad caracterizada por una alteracion en la estructura ciliar que impide el correcto aclaramiento de las secreciones respiratorias. Su diagnostico es complejo y se basa en una comb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::892700d887c0ab27236cf60d1e1b3898
https://doi.org/10.1016/j.arbres.2020.02.010
https://doi.org/10.1016/j.arbres.2020.02.010
Autor:
Alba Torrent-Vernetta, Inés de Mir Messa, Silvia Castillo-Corullón, Sandra Rovira-Amigo, Amparo Escribano, Marta Garrido-Pontnou, Esther Amengual Pieras, Óscar Asensio de la Cruz, Ignacio Iglesias-Serrano, Noelia Baz-Redón, Mónica Fernández-Cancio, Eduardo F. Tizzano, Ana Reula, Rosanel Amaro-Rodríguez, Carlos Martín de Vicente, Silvia Gartner, Gerardo Vizmanos-Lamotte, Francisco Dasí, Eva Polverino, Núria Camats-Tarruella, María del Mar Martínez-Colls, Elena García-Arumí, Ida Paramonov, Antonio Moreno-Galdó, Miguel Armengot-Carceller, M. Araceli Caballero-Rabasco, María Antolín, Maria Cols-Roig
Publikováno v:
Archivos de Bronconeumología (English Edition). 57:186-194
Introduction Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a637426f3354de6c8bf3addd96c14b0b
https://doi.org/10.1016/j.arbr.2021.01.003
https://doi.org/10.1016/j.arbr.2021.01.003
Autor:
Alba Torrent-Vernetta, Antonio Moreno-Galdó, Mónica Fernández-Cancio, Álvaro Gimeno Díaz de Atauri, Mirella Gaboli, Ana Díez Izquierdo, Pilar Caro Aguilera, Valle Velasco Gonzalez, Alexandra Navarro, Elisa María Canino Calderín, Silvia Castillo-Corullón, Rosario Carmona, Carlos Martín de Vicente, Alfredo Valenzuela Soria, María Ángeles Villar Álvarez, Javier Torres-Borrego, Pedro Mondejar-Lopez, Jordi Costa-Colomer, Verónica Sanz Santiago, Joaquín Dopazo, Borja Osona, Silvia Gartner, María Dolores Pastor-Vivero, Sara Bellon Alonso, Inés de Mir Messa, Noelia Baz-Redón, Roser Ayats, Ignacio Iglesias Serrano, Olga de la Serna-Blázquez, Sandra Rovira-Amigo, Jose Domingo Moure Gonzalez, Núria Camats-Tarruella, Christina K Rapp, Matthias Griese
Publikováno v:
ARCHIVOS DE BRONCONEUMOLOGIA
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
Consejo Superior de Investigaciones Científicas (CSIC)
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
Consejo Superior de Investigaciones Científicas (CSIC)
[Background] Children's diffuse lung disease, also known as children's Interstitial Lung Diseases (chILD), are a heterogeneous group of rare diseases with relevant morbidity and mortality, which diagnosis and classification are very complex. Epidemio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66d7487d51ee88d5f95cd68248382927
http://hdl.handle.net/10261/306409
http://hdl.handle.net/10261/306409
Autor:
Alba Torrent Vernetta, Jordi Costa-Colomer, Álvaro Gimeno Díaz de Atauri, Roser Ayats, Carlos Martín de Vicente, Matthias Griese, Olga de la Serna Blázquez, Mirella Gaboli, Sara Bellon Alonso, Pilar Caro Aguilera, Valle Velasco Gonzalez, Alfredo Valenzuela Soria, Javier Torres-Borrego, Pedro Mondejar-Lopez, Borja Osona, Verónica Sanz Santiago, Silvia Castillo-Corullón, Ana Díez Isquierdo, Antonio Moreno-Galdó, Sandra Rovira-Amigo, Jose Domingo Moure Gonzalez, Christina K Rapp, Ignacio Iglesias Serrano
Publikováno v:
Paediatric bronchology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31c8b9d759c6170367e50bf040cd5038
https://doi.org/10.1183/13993003.congress-2021.oa4073
https://doi.org/10.1183/13993003.congress-2021.oa4073