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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. Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019. Front Immunol. 2019. PMID: 31681265 Free PMC article.
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Franco-Jarava C, Wang H, Martin-Nalda A, Alvarez SD, García-Prat M, Bodet D, García-Patos V, Plaja A, Rudilla F, Rodriguez-Sureda V, García-Latorre L, Aksentijevich I, Colobran R, Soler-Palacín P. Franco-Jarava C, et al. Clin Immunol. 2018 Jun;191:44-51. doi: 10.1016/j.clim.2018.03.009. Epub 2018 Mar 20. Clin Immunol. 2018. PMID: 29572183
[Fever and skin lesions in a patient with chronic granulomatous disease].
Rovira Castellví P, Martin-Nalda A, García-Patos V, Ferrer Fàbrega B, Figueras Nadal C. Rovira Castellví P, et al. An Pediatr (Barc). 2014 Feb;80(2):e50-1. doi: 10.1016/j.anpedi.2013.05.021. Epub 2013 Oct 6. An Pediatr (Barc). 2014. PMID: 24103241 Free article. Spanish. No abstract available.
Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome.
Bueno E, Cañueto J, García-Patos V, Vicente MA, Bodet-Castillo D, Hernández-Ruíz ME, González-Sarmiento R. Bueno E, et al. J Eur Acad Dermatol Venereol. 2017 Jan;31(1):e11-e13. doi: 10.1111/jdv.13584. Epub 2016 May 11. J Eur Acad Dermatol Venereol. 2017. PMID: 27168232 No abstract available.
Changes in the microbiological diagnosis and epidemiology of cutaneous leishmaniasis in real-time PCR era: A six-year experience in a referral center in Barcelona.
Silgado A, Armas M, Sánchez-Montalvá A, Goterris L, Ubals M, Temprana-Salvador J, Aparicio G, Chicharro C, Serre-Delcor N, Ferrer B, Molina I, García-Patos V, Pumarola T, Sulleiro E. Silgado A, et al. Among authors: garcia patos v. PLoS Negl Trop Dis. 2021 Nov 10;15(11):e0009884. doi: 10.1371/journal.pntd.0009884. eCollection 2021 Nov. PLoS Negl Trop Dis. 2021. PMID: 34758023 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 32389502
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, González-Sarmiento R. Cañueto J, et al. Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2. Br J Dermatol. 2012. PMID: 22121851 Review.
Epithelial to mesenchymal transition markers are associated with an increased metastatic risk in primary cutaneous squamous cell carcinomas but are attenuated in lymph node metastases.
Toll A, Masferrer E, Hernández-Ruiz ME, Ferrandiz-Pulido C, Yébenes M, Jaka A, Tuneu A, Jucglà A, Gimeno J, Baró T, Casado B, Gandarillas A, Costa I, Mojal S, Peña R, de Herreros AG, García-Patos V, Pujol RM, Hernández-Muñoz I. Toll A, et al. J Dermatol Sci. 2013 Nov;72(2):93-102. doi: 10.1016/j.jdermsci.2013.07.001. Epub 2013 Jul 15. J Dermatol Sci. 2013. PMID: 23928229
A mouse model uncovers LKB1 as an UVB-induced DNA damage sensor mediating CDKN1A (p21WAF1/CIP1) degradation.
Esteve-Puig R, Gil R, González-Sánchez E, Bech-Serra JJ, Grueso J, Hernández-Losa J, Moliné T, Canals F, Ferrer B, Cortés J, Bastian B, Ramón Y Cajal S, Martín-Caballero J, Flores JM, Vivancos A, García-Patos V, Recio JÁ. Esteve-Puig R, et al. PLoS Genet. 2014 Oct 16;10(10):e1004721. doi: 10.1371/journal.pgen.1004721. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25329316 Free PMC article.
134 results