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2011 1
2013 3
2014 2
2015 5
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Page 1
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact… See abstract for full author list ➔ Zhang Q, et al. Among authors: masson c. Science. 2020 Oct 23;370(6515):eabd4570. doi: 10.1126/science.abd4570. Epub 2020 Sep 24. Science. 2020. PMID: 32972995 Free PMC article.
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F. Boussard C, et al. Among authors: masson c. Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. Blood. 2023. PMID: 36952639
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Poirier K, et al. Among authors: masson c. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Nat Genet. 2013. PMID: 23603762 Free PMC article.
Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.
de Cevins C, Delage L, Batignes M, Riller Q, Luka M, Remaury A, Sorin B, Fali T, Masson C, Hoareau B, Meunier C, Parisot M, Zarhrate M, Pérot BP, García-Paredes V, Carbone F, Galliot L, Nal B, Pierre P, Canard L, Boussard C, Crickx E, Guillemot JC, Bader-Meunier B, Bélot A, Quartier P, Frémond ML, Neven B, Boldina G, Augé F, Alain F, Didier M, Rieux-Laucat F, Ménager MM. de Cevins C, et al. Among authors: masson c. Cell Rep Med. 2023 Dec 19;4(12):101333. doi: 10.1016/j.xcrm.2023.101333. Cell Rep Med. 2023. PMID: 38118407 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: masson c. Nature. 2024 Apr;628(8008):620-629. doi: 10.1038/s41586-024-07213-6. Epub 2024 Mar 20. Nature. 2024. PMID: 38509369
Novel lentiviral vectors for gene therapy of sickle cell disease combining gene addition and gene silencing strategies.
Brusson M, Chalumeau A, Martinucci P, Romano O, Felix T, Poletti V, Scaramuzza S, Ramadier S, Masson C, Ferrari G, Mavilio F, Cavazzana M, Amendola M, Miccio A. Brusson M, et al. Among authors: masson c. Mol Ther Nucleic Acids. 2023 Mar 22;32:229-246. doi: 10.1016/j.omtn.2023.03.012. eCollection 2023 Jun 13. Mol Ther Nucleic Acids. 2023. PMID: 37090420 Free PMC article.
Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.
Antoniou P, Hardouin G, Martinucci P, Frati G, Felix T, Chalumeau A, Fontana L, Martin J, Masson C, Brusson M, Maule G, Rosello M, Giovannangeli C, Abramowski V, de Villartay JP, Concordet JP, Del Bene F, El Nemer W, Amendola M, Cavazzana M, Cereseto A, Romano O, Miccio A. Antoniou P, et al. Among authors: masson c. Nat Commun. 2022 Nov 4;13(1):6618. doi: 10.1038/s41467-022-34493-1. Nat Commun. 2022. PMID: 36333351 Free PMC article.
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, Masson C, Rice GI, Frémond ML, Lepelley A, Marsh JA, Crow YJ. David C, et al. Among authors: masson c. J Clin Immunol. 2024 Feb 7;44(2):60. doi: 10.1007/s10875-024-01660-6. J Clin Immunol. 2024. PMID: 38324161 Free PMC article.
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Ruaud L, Roux N, Boutaud L, Bessières B, Ageorges F, Achaiaa A, Bole C, Nitschke P, Masson C, Vekemans M, Verloes A, Attie-Bitach T. Ruaud L, et al. Among authors: masson c. Birth Defects Res. 2022 Jun;114(10):499-504. doi: 10.1002/bdr2.2011. Epub 2022 Apr 15. Birth Defects Res. 2022. PMID: 35426486 Review.
50 results