Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Javier G. Ocejo-Vinyals"'
Autor:
Diana Prieto-Peña, Javier G. Ocejo-Vinyals, Joel Mazariegos-Cano, Ana L. Pelayo-Negro, Sara Remuzgo-Martínez, Fernanda Genre, Alicia García-Dorta, Mónica Renuncio-García, Víctor M. Martínez-Taboada, Carmen García-Ibarbia, Julio Sánchez-Martín, Marcos López-Hoyos, Ricardo Blanco, Miguel A. González-Gay, José L. Hernández
Publikováno v:
European Journal of Internal Medicine. 101:86-92
To characterize the demographic, genetic, clinical, and serological features of patients with anti-3‑hydroxy-3-methylglutaryl-CoA reductase (HMGCR) immune-mediated necrotizing myopathy (IMNM) in a region of northern Spain.Study of all patients diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5957d9e38ad96c381cb053569ccd4b24
https://doi.org/10.1016/j.ejim.2022.04.017
https://doi.org/10.1016/j.ejim.2022.04.017
Autor:
Lisa E. Creary, Manuel Muro, María Francisca González-Escribano, Antonio Balas, Jose L. Vicario, Tamara Vayntrub, Maria J. Herrero-Mata, Luis Marín, Florentino Sánchez-García, Marcelo Fernandez-Vina, Javier G. Ocejo-Vinyals, Gonzalo Montero-Martín, Kazutoyo Osoegawa, Kalyan C. Mallempati, José Luis Caro-Oleas, María R. Moya-Quiles, Sridevi Gangavarapu, Dolores Planelles, Carlos Vilches, Rafael González-Fernández, F. Sánchez-Gordo
Publikováno v:
HUMAN IMMUNOLOGY
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Digital.CSIC. Repositorio Institucional del CSIC
Hum Immunol
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Digital.CSIC. Repositorio Institucional del CSIC
Hum Immunol
Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0c20b485048fa04ade939ae69350d84
https://doi.org/10.1016/j.humimm.2019.02.005
https://doi.org/10.1016/j.humimm.2019.02.005
Publikováno v:
Molecular Medicine. 1:700-705
Hereditary angioneurotic edema (HANE) is an autosomal dominant disease due to genetic alterations at the C1 inhibitor gene. Mutations within the C1 inhibitor gene are responsible for the molecular defect in type II HANE. Most of the dysfunctional pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8487f28c2b402021f197b9c59faada0
https://doi.org/10.1007/bf03401610
https://doi.org/10.1007/bf03401610