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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.
Charbit-Henrion F, Bègue B, Sierra A, Hanein S, Stolzenberg MC, Li Z, Pellegrini S, Garcelon N, Jeanpierre M, Neven B, Loge I, Picard C, Rosain J, Bustamante J, Le Lorc'h M, Pigneur B, Fernandes A; GENIUS Group; Rieux-Laucat F, Amil Dias J, Ruemmele FM, Cerf-Bensussan N. Charbit-Henrion F, et al. Among authors: fernandes a. PLoS One. 2018 Oct 26;13(10):e0205826. doi: 10.1371/journal.pone.0205826. eCollection 2018. PLoS One. 2018. PMID: 30365510 Free PMC article.
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.
Martin E, Winter S, Garcin C, Tanita K, Hoshino A, Lenoir C, Fournier B, Migaud M, Boutboul D, Simonin M, Fernandes A, Bastard P, Le Voyer T, Roupie AL, Ben Ahmed Y, Leruez-Ville M, Burgard M, Rao G, Ma CS, Masson C, Soudais C, Picard C, Bustamante J, Tangye SG, Cheikh N, Seppänen M, Puel A, Daly M, Casanova JL, Neven B, Fischer A, Latour S. Martin E, et al. Among authors: fernandes a. Nature. 2024 Apr;628(8008):620-629. doi: 10.1038/s41586-024-07213-6. Epub 2024 Mar 20. Nature. 2024. PMID: 38509369
Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
Consonni F, Moreno S, Vinuales Colell B, Stolzenberg MC, Fernandes A, Parisot M, Masson C, Neveux N, Rosain J, Bamberger S, Vigue MG, Malphettes M, Quartier P, Picard C, Rieux-Laucat F, Magerus A. Consonni F, et al. Among authors: fernandes a. Cell Death Dis. 2024 May 4;15(5):315. doi: 10.1038/s41419-024-06679-6. Cell Death Dis. 2024. PMID: 38704374 Free PMC article.
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Benyelles M, O'Donohue MF, Kermasson L, Lainey E, Borie R, Lagresle-Peyrou C, Nunes H, Cazelles C, Fourrage C, Ollivier E, Marcais A, Gamez AS, Morice-Picard F, Caillaud D, Pottier N, Ménard C, Ba I, Fernandes A, Crestani B, de Villartay JP, Gleizes PE, Callebaut I, Kannengiesser C, Revy P. Benyelles M, et al. Among authors: fernandes a. Hum Mol Genet. 2020 Apr 15;29(6):907-922. doi: 10.1093/hmg/ddaa011. Hum Mol Genet. 2020. PMID: 31985013
Portuguese Pancreatic Club Perspectives on Pancreatic Neuroendocrine Neoplasms: Diagnosis and Staging, Associated Genetic Syndromes and Particularities of Their Clinical Approach.
Ferreira-Silva J, Meireles S, Falconi M, Fernandes A, Vilas-Boas F, Bispo M, Rio-Tinto R, Rodrigues-Pinto E; Portuguese Pancreatic Club, specialized section of the Portuguese Society of Gastroenterology. Ferreira-Silva J, et al. Among authors: fernandes a. GE Port J Gastroenterol. 2023 Dec 27;31(3):153-164. doi: 10.1159/000534641. eCollection 2024 Jun. GE Port J Gastroenterol. 2023. PMID: 38836119 Free PMC article. Review.
Editorial: Education in pharmacology of anti-cancer drugs: 2023.
Costa JG, Feron O, Fernandes AS. Costa JG, et al. Among authors: fernandes as. Front Pharmacol. 2024 May 20;15:1422847. doi: 10.3389/fphar.2024.1422847. eCollection 2024. Front Pharmacol. 2024. PMID: 38831881 Free PMC article. No abstract available.
A Dive Into Oblivion: A Case of Transient Global Amnesia.
Martins I, Araújo T, Madeira I, Ribeiro JF, Fernandes A. Martins I, et al. Among authors: fernandes a. Cureus. 2024 May 3;16(5):e59603. doi: 10.7759/cureus.59603. eCollection 2024 May. Cureus. 2024. PMID: 38826884 Free PMC article.
Sex as a predictor of clinical phenotype and determinant of immune response in IgG4-related disease: a retrospective study of patients fulfilling the American College of Rheumatology-European League Against Rheumatism classification criteria.
Jha I, McMahon GA, Perugino CA, Katz G, Wallace ZS, Fernandes A, Jiang B, Zhang Y, McMahon AE, Guy TV, Liu H, Hernandez-Barco YG, Pillai S, Stone JH. Jha I, et al. Among authors: fernandes a. Lancet Rheumatol. 2024 May 30:S2665-9913(24)00089-4. doi: 10.1016/S2665-9913(24)00089-4. Online ahead of print. Lancet Rheumatol. 2024. PMID: 38824935
3,733 results