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[The Spanish Society of Paediatric Infectious Diseases (SEIP) recommendations on the diagnosis and management of invasive candidiasis].
Figueras C, Díaz de Heredia C, García JJ, Navarro M, Ruiz-Contreras J, Rossich R, Rumbao J, Frick MA, Roselló EM; Grupo de Estudio de la Infección Fúngica Invasiva de la Sociedad Española de Infectología Pediátrica (SEIP). Figueras C, et al. An Pediatr (Barc). 2011 May;74(5):337.e1-337.e17. doi: 10.1016/j.anpedi.2010.12.012. Epub 2011 Mar 10. An Pediatr (Barc). 2011. PMID: 21396895 Free article. Spanish.
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Martin-Nalda A, Cueto-González AM, Argudo-Ramírez A, Marin-Soria JL, Martinez-Gallo M, Colobran R, Plaja A, Castells N, Riviere J, Tizzano EF, Soler-Palacin P. Martin-Nalda A, et al. Among authors: soler palacin p. Mol Genet Genomic Med. 2019 Dec;7(12):e1016. doi: 10.1002/mgg3.1016. Epub 2019 Oct 30. Mol Genet Genomic Med. 2019. PMID: 31663686 Free PMC article.
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
Rudilla F, Franco-Jarava C, Martínez-Gallo M, Garcia-Prat M, Martín-Nalda A, Rivière J, Aguiló-Cucurull A, Mongay L, Vidal F, Solanich X, Irastorza I, Santos-Pérez JL, Tercedor Sánchez J, Cuscó I, Serra C, Baz-Redón N, Fernández-Cancio M, Carreras C, Vagace JM, Garcia-Patos V, Pujol-Borrell R, Soler-Palacín P, Colobran R. Rudilla F, et al. Among authors: soler palacin p. Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019. Front Immunol. 2019. PMID: 31681265 Free PMC article.
First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain).
Argudo-Ramírez A, Martín-Nalda A, Marín-Soria JL, López-Galera RM, Pajares-García S, González de Aledo-Castillo JM, Martínez-Gallo M, García-Prat M, Colobran R, Riviere JG, Quintero Y, Collado T, García-Villoria J, Ribes A, Soler-Palacín P. Argudo-Ramírez A, et al. Among authors: soler palacin p. Front Immunol. 2019 Oct 22;10:2406. doi: 10.3389/fimmu.2019.02406. eCollection 2019. Front Immunol. 2019. PMID: 31695692 Free PMC article.
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A, Garcia-Prat M, Magallón-Lorenz M, Martín-Nalda A, Drechsel O, Ossowski S, Alonso L, Rivière JG, Soler-Palacín P, Colobran R, Sayós J, Martínez-Gallo M, Franco-Jarava C. Arcas-García A, et al. Among authors: soler palacin p. Clin Exp Immunol. 2020 Apr;200(1):61-72. doi: 10.1111/cei.13405. Epub 2020 Jan 19. Clin Exp Immunol. 2020. PMID: 31799703 Free PMC article.
Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.
Rivière JG, Franco-Jarava C, Martínez-Gallo M, Aguiló-Cucurull A, Blasco-Pérez L, Paramonov I, Antolín M, Martín-Nalda A, Soler-Palacín P, Colobran R. Rivière JG, et al. Among authors: soler palacin p. Front Immunol. 2020 Feb 12;11:46. doi: 10.3389/fimmu.2020.00046. eCollection 2020. Front Immunol. 2020. PMID: 32117230 Free PMC article.
Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies.
Ridao-Manonellas S, Fábregas-Bofill A, Núñez-Rueda G, González-Amores M, García-Prat M, López-Seguer L, Rivière JG, Martín-Nalda A, Mendoza-Palomar N, Melendo-Pérez S, Soler-Palacín P. Ridao-Manonellas S, et al. Among authors: soler palacin p. J Clin Immunol. 2020 May;40(4):602-609. doi: 10.1007/s10875-020-00775-w. Epub 2020 Apr 15. J Clin Immunol. 2020. PMID: 32291562
266 results