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Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
Le Voyer T, Neehus AL, Yang R, Ogishi M, Rosain J, Alroqi F, Alshalan M, Blumental S, Al Ali F, Khan T, Ata M, Rozen L, Demulder A, Bastard P, Gruber C, Roynard M, Seeleuthener Y, Rapaport F, Bigio B, Chrabieh M, Sng D, Berteloot L, Boddaert N, Rozenberg F, Al-Muhsen S, Bertoli-Avella A, Abel L, Bogunovic D, Marr N, Mansouri D, Al Mutairi F, Béziat V, Weil D, Mahdaviani SA, Ferster A, Zhang SY, Reversade B, Boisson-Dupuis S, Casanova JL, Bustamante J. Le Voyer T, et al. Among authors: boddaert n. Proc Natl Acad Sci U S A. 2021 Apr 13;118(15):e2102804118. doi: 10.1073/pnas.2102804118. Proc Natl Acad Sci U S A. 2021. PMID: 33876776 Free PMC article.
Alternative pathways for the development of lymphoid structures in humans.
Berteloot L, Molina TJ, Bruneau J, Picard C, Barlogis V, Secq V, Abdo C, Boddaert N, Griscelli C, Neven B, Fischer A. Berteloot L, et al. Among authors: boddaert n. Proc Natl Acad Sci U S A. 2021 Jul 20;118(29):e2108082118. doi: 10.1073/pnas.2108082118. Proc Natl Acad Sci U S A. 2021. PMID: 34261794 Free PMC article.
A partial form of inherited human USP18 deficiency underlies infection and inflammation.
Martin-Fernandez M, Buta S, Le Voyer T, Li Z, Dynesen LT, Vuillier F, Franklin L, Ailal F, Muglia Amancio A, Malle L, Gruber C, Benhsaien I, Altman J, Taft J, Deswarte C, Roynard M, Nieto-Patlan A, Moriya K, Rosain J, Boddaert N, Bousfiha A, Crow YJ, Jankovic D, Sher A, Casanova JL, Pellegrini S, Bustamante J, Bogunovic D. Martin-Fernandez M, et al. Among authors: boddaert n. J Exp Med. 2022 Apr 4;219(4):e20211273. doi: 10.1084/jem.20211273. Epub 2022 Mar 8. J Exp Med. 2022. PMID: 35258551 Free PMC article.
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R. Barcia G, et al. Among authors: boddaert n. Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21. Nat Genet. 2012. PMID: 23086397 Free PMC article.
Systemic inflammatory syndrome in children with FARSA deficiency.
Charbit-Henrion F, Goguyer-Deschaumes R, Borensztajn K, Mirande M, Berthelet J, Rodrigues-Lima F, Khiat A, Frémond ML, Bader-Meunier B, Rodari MM, Seabra L, Rice GI, Legendre M, Drummond D, Berteloot L, Roux CJ, Boddaert N, Drabent P, Molina TJ, Lacaille F, Kossorotoff M, Cerf-Bensussan N, Parlato M, Hadchouel A. Charbit-Henrion F, et al. Among authors: boddaert n. Clin Genet. 2022 May;101(5-6):552-558. doi: 10.1111/cge.14120. Epub 2022 Feb 17. Clin Genet. 2022. PMID: 35132614 Free PMC article.
Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children.
Aubart M, Roux CJ, Durrleman C, Gins C, Hully M, Kossorotoff M, Gitiaux C, Levy R, Moulin F, Debray A, Belhadjer Z, Georget E, Kom T, Blanc P, Wehbi S, Mazeghrane M, Tencer J, Gajdos V, Rouget S, De Pontual L, Basmaci R, Yacouben K, Angoulvant F, Leruez-Ville M, Sterlin D, Rozenberg F, Robert MP, Zhang SY, Boddaert N, Desguerre I. Aubart M, et al. Among authors: boddaert n. J Pediatr. 2022 Aug;247:22-28.e2. doi: 10.1016/j.jpeds.2022.05.018. Epub 2022 May 14. J Pediatr. 2022. PMID: 35577119 Free PMC article.
479 results