Zobrazeno 1 - 10
of 12
pro vyhledávání: '"María Barreda-Sánchez"'
Autor:
Rosario López-Rodríguez, Marta Del Pozo-Valero, Marta Corton, Pablo Minguez, Javier Ruiz-Hornillos, María Elena Pérez-Tomás, María Barreda-Sánchez, Esther Mancebo, Cristina Villaverde, Gonzalo Núñez-Moreno, Raquel Romero, The STOP_Coronavirus Study Group, Estela Paz-Artal, Encarna Guillén-Navarro, Berta Almoguera, Carmen Ayuso
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Rare variants affecting host defense against pathogens could be involved in COVID-19 severity and may help explain fatal outcomes in young and middle-aged patients. Our aim was to report the presence of rare genetic variants in certain genes
Externí odkaz:
https://doaj.org/article/62f9ea9f27be41eb87cbdd64c609551b
Autor:
Juan Buendía-Martínez, María Barreda-Sánchez, Lidya Rodríguez-Peña, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Elena Pérez-Tomás, Remedios Gil-Ferrer, Francisco Avilés-Plaza, Guillermo Glover-López, Carmen Carazo-Díaz, Encarna Guillén-Navarro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during no
Externí odkaz:
https://doaj.org/article/2d572edc54f34f60976ee25f97abbae7
Autor:
María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López, Encarna Guillén-Navarro, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated phenotype is considered a non-syndromic trait when the patient is affec
Externí odkaz:
https://doaj.org/article/16b59a2700154415b1be767b79cb1ab8
Autor:
María Barreda-Sánchez, Juan Buendía-Martínez, Guillermo Glover-López, Carmen Carazo-Díaz, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, Remedios Gil-Ferrer, Maria del Carmen Martínez-Romero, Pablo Carbonell-Meseguer, Encarna Guillén-Navarro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract Background Acute intermittent porphyria (AIP) is a low-penetrant genetic metabolic disease caused by a deficiency of hydroxymethylbilane synthase (HMBS) in the haem biosynthesis. Manifest AIP (MAIP) is considered when carriers develop typica
Externí odkaz:
https://doaj.org/article/e6051122f8c44006bef3af61a9858543
Autor:
Marta, Del Pozo-Valero, Marta, Corton, Rosario, López-Rodríguez, Ignacio, Mahillo-Fernández, Javier, Ruiz-Hornillos, Pablo, Minguez, Cristina, Villaverde, María Elena, Pérez-Tomás, María, Barreda-Sánchez, Esther, Mancebo, Estela, Paz-Artal, Encarna, Guillén-Navarro, Berta, Almoguera, María Carmen García, Torrejón
Publikováno v:
GeroScience. 45:543-553
Clonal hematopoiesis, especially that of indeterminate potential (CHIP), has been associated with age-related diseases, such as those contributing to a more severe COVID-19. Four studies have attempted to associate CHIP with COVID-19 severity without
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7a438281d70e645cc67ba65d101ccab
https://doi.org/10.1007/s11357-022-00666-5
https://doi.org/10.1007/s11357-022-00666-5
Autor:
Guillermo Glover-López, Lidya Rodriguez-Peña, María Elena Pérez-Tomás, María Barreda-Sánchez, Carmen Carazo-Díaz, Ana Teresa Serrano-Antón, María José Sánchez-Soler, Vanesa López-González, Remedios Gil-Ferrer, Juan Buendía-Martínez, E. Guillén-Navarro, Francisco Avilés-Plaza, María Juliana Ballesta-Martínez
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during non-attack
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::764554db816072b981f1c2d55c103176
https://doi.org/10.1186/s13023-021-01742-3
https://doi.org/10.1186/s13023-021-01742-3
Autor:
María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Intellectual disability (ID) has a prevalence of 1–3% and aproximately 30–50% of ID cases have a genetic cause. Development of next-generation sequencing has shown a high diagnostic potential. The aim of this work was to evaluate the dia
Externí odkaz:
https://doaj.org/article/e6e8ba58378b4a60bbb269d823070007
Autor:
María José Sánchez-Soler, María Barreda-Sánchez, María Juliana Ballesta-Martínez, G. Glóver, E. Guillén-Navarro
Publikováno v:
Anales de Pediatría (English Edition), Vol 84, Iss 2, Pp 114-115 (2016)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199e08a449a2c25e2465dc244ec13f0e
http://www.sciencedirect.com/science/article/pii/S2341287915002914
http://www.sciencedirect.com/science/article/pii/S2341287915002914
Autor:
María Barreda-Sánchez, María José Sánchez-Soler, María Juliana Ballesta-Martínez, E. Guillén-Navarro, G. Glóver
Publikováno v:
Anales de Pediatría, Vol 84, Iss 2, Pp 114-115 (2016)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0501ce8f6984895b2d439d07d4bb6937
https://doi.org/10.1016/j.anpedi.2015.09.002
https://doi.org/10.1016/j.anpedi.2015.09.002
Autor:
Paloma Sánchez-Pedreño, E. Guillén-Navarro, M.T. Martínez-Menchón, Lidya Rodriguez-Peña, Vanesa López-González, Guillermo Glover-López, M.C. Martinez, P. Carbonell, María Juliana Ballesta-Martínez, María Barreda-Sánchez
Publikováno v:
Journal of Investigative Dermatology. 137:S239
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffe62c8060bf577cede995602ab99589
https://doi.org/10.1016/j.jid.2017.07.269
https://doi.org/10.1016/j.jid.2017.07.269