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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 3
1995 3
1996 3
1997 5
1998 4
1999 3
2000 3
2001 4
2002 2
2003 3
2004 5
2005 6
2006 5
2007 4
2008 5
2009 5
2010 6
2011 8
2012 9
2013 7
2014 10
2015 5
2016 10
2017 10
2018 12
2019 15
2020 22
2021 24
2022 26
2023 21
2024 9

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237 results

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Page 1
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Novel and emerging treatments for Aicardi-Goutières syndrome.
Tonduti D, Fazzi E, Badolato R, Orcesi S. Tonduti D, et al. Among authors: badolato r. Expert Rev Clin Immunol. 2020 Feb;16(2):189-198. doi: 10.1080/1744666X.2019.1707663. Epub 2020 Jan 6. Expert Rev Clin Immunol. 2020. PMID: 31855085 Review.
Immunodeficiencies with autoimmune consequences.
Notarangelo LD, Gambineri E, Badolato R. Notarangelo LD, et al. Among authors: badolato r. Adv Immunol. 2006;89:321-70. doi: 10.1016/S0065-2776(05)89008-X. Adv Immunol. 2006. PMID: 16682278 Review.
CARD11 dominant negative mutation leads to altered human Natural Killer cell homeostasis.
Baronio M, Gazzurelli L, Rezzola S, Rossi S, Tessarin G, Marinoni M, Salpietro A, Fiore M, Moratto D, Chiarini M, Badolato R, Parolini S, Tabellini G, Lougaris V. Baronio M, et al. Among authors: badolato r. Immunobiology. 2023 May;228(3):152381. doi: 10.1016/j.imbio.2023.152381. Epub 2023 Apr 5. Immunobiology. 2023. PMID: 37086690
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J; European CF Society Neonatal Screening Working Group (ECFS NSWG). Munck A, et al. J Cyst Fibros. 2023 May;22(3):484-495. doi: 10.1016/j.jcf.2022.09.012. Epub 2022 Nov 10. J Cyst Fibros. 2023. PMID: 36372700
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
Roncareggi S, Girardi K, Fioredda F, Pedace L, Arcuri L, Badolato R, Bonanomi S, Borlenghi E, Cirillo E, Coliva T, Consonni F, Conti F, Farruggia P, Gambineri E, Guerra F, Locatelli F, Mancuso G, Marzollo A, Masetti R, Micalizzi C, Onofrillo D, Piccini M, Pignata C, Raddi MG, Santini V, Vendemini F, Biondi A, Saettini F. Roncareggi S, et al. Among authors: badolato r. J Clin Immunol. 2023 Nov;43(8):2192-2207. doi: 10.1007/s10875-023-01583-8. Epub 2023 Oct 14. J Clin Immunol. 2023. PMID: 37837580
237 results