Epstein-Barr virus-specific T-cell response in pediatric liver transplant recipients: a cross-sectional study by multiparametric flow cytometry

Autor: Ricardo Cuesta-Martín de la Cámara, Andrea Torices-Pajares, Laura Miguel-Berenguel, Keren Reche-Yebra, Esteban Frauca-Remacha, Loreto Hierro-Llanillo, Gema Muñoz-Bartolo, María Dolores Lledín-Barbacho, Almudena Gutiérrez-Arroyo, Ana Martínez-Feito, Eduardo López-Granados, Elena Sánchez-Zapardiel

Publikováno v: Frontiers in Immunology, Vol 15 (2024)

BackgroundEpstein-Barr virus (EBV) specific T-cell response measurement can help adjust immunosuppression in transplant patients with persistent infections. We aim to define T-cell responses against EBV in a cohort of pediatric liver-transplant patie

Externí odkaz: https://doaj.org/article/c8293f941f7f42a2bdd42cb4644129a3

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype

Autor: Juan José Menéndez Suso, Marta Pacio, Juan Manuel Montejo, Elena Mansilla, Pablo Lapunzina, Rocío Mena, Angela del Pozo, Fermina López-Grondona, Anna M. Cueto-González, Cristina Schuffelmann, Fernando Santos-Simarro, Sixto García-Miñaúr, María Irene Valenzuela-Palafoll, María Dolores Lledín, Carmen Jiménez-Rodríguez, Patricia Vallcorba, María Palomares-Bralo, Sofia M. Siccha, Mario Solís

Publikováno v: European Journal of Medical Genetics. 64:104338

Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114 ) is a rare autosomal recessive disorder, characterized by mosaic aneuploidies involving multiple chromosomes and tissues, caused by biallelic pathogenic variants in the CEP57 gene. Only 10 pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d366150d420e226d5274c3dc4672cc5
https://doi.org/10.1016/j.ejmg.2021.104338

A new variant in PHKA2 is associated with glycogen storage disease type IXa

Autor: Elena Vallespín, Sonia Rodríguez-Nóvoa, Angela del Pozo, Dolores Lledín, Pablo Lapunzina, Carmen Camarena, Rocío Mena, Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Angel Campos-Barros

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 52-55 (2017)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c13e45e453677bb754c2ecf3c6de034
http://www.sciencedirect.com/science/article/pii/S2214426916301112

A new variant in

Autor: Carmen, Rodríguez-Jiménez, Fernando, Santos-Simarro, Ángel, Campos-Barros, Carmen, Camarena, Dolores, Lledín, Elena, Vallespín, Ángela, Del Pozo, Rocío, Mena, Pablo, Lapunzina, Sonia, Rodríguez-Nóvoa

Publikováno v: Molecular Genetics and Metabolism Reports

Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::55cfc8bb48f05213fae007a7c3cfb618
https://pubmed.ncbi.nlm.nih.gov/28116244

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.