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Year Number of Results
2011 2
2012 2
2013 2
2014 1
2017 2
2018 1
2019 3
2020 2
2021 2
2022 4
2023 8
2024 0

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26 results

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Page 1
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Elmas Bozdemir S, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna JM, Jaffré F, Hoffmann HH, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias AA, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus AL, Rosain J, Peel J, Chan YH, Morin MP, Pino-Ramirez RM, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego ML, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss SR, Bonnet D, Duval X; CoV-Contact Cohort§; COVID Human Genetic Effort¶; Pan-Hammarström Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard CL, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, Perez de Diego R, Rodriguez-Gallego C, Su HC, Lifton RP, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice CM, Silverman RH, Zhang SY, Casanova JL. Lee D, et al. Among authors: belkaya s. Science. 2023 Feb 10;379(6632):eabo3627. doi: 10.1126/science.abo3627. Epub 2023 Feb 10. Science. 2023. PMID: 36538032 Free PMC article.
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
Béziat V, Rapaport F, Hu J, Titeux M, Bonnet des Claustres M, Bourgey M, Griffin H, Bandet É, Ma CS, Sherkat R, Rokni-Zadeh H, Louis DM, Changi-Ashtiani M, Delmonte OM, Fukushima T, Habib T, Guennoun A, Khan T, Bender N, Rahman M, About F, Yang R, Rao G, Rouzaud C, Li J, Shearer D, Balogh K, Al Ali F, Ata M, Dabiri S, Momenilandi M, Nammour J, Alyanakian MA, Leruez-Ville M, Guenat D, Materna M, Marcot L, Vladikine N, Soret C, Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J, Catherinot É, Navabi SS, Zarhrate M, Woodley DT, Jeljeli M, Abraham T, Belkaya S, Lorenzo L, Rosain J, Bayat M, Lanternier F, Lortholary O, Zakavi F, Gros P, Orth G, Abel L, Prétet JL, Fraitag S, Jouanguy E, Davis MM, Tangye SG, Notarangelo LD, Marr N, Waterboer T, Langlais D, Doorbar J, Hovnanian A, Christensen N, Bossuyt X, Shahrooei M, Casanova JL. Béziat V, et al. Among authors: belkaya s. Cell. 2021 Jul 8;184(14):3812-3828.e30. doi: 10.1016/j.cell.2021.06.004. Epub 2021 Jul 1. Cell. 2021. PMID: 34214472 Free PMC article.
Human hepatocyte PNPLA3-148M exacerbates rapid non-alcoholic fatty liver disease development in chimeric mice.
Kabbani M, Michailidis E, Steensels S, Fulmer CG, Luna JM, Le Pen J, Tardelli M, Razooky B, Ricardo-Lax I, Zou C, Zeck B, Stenzel AF, Quirk C, Foquet L, Ashbrook AW, Schneider WM, Belkaya S, Lalazar G, Liang Y, Pittman M, Devisscher L, Suemizu H, Theise ND, Chiriboga L, Cohen DE, Copenhaver R, Grompe M, Meuleman P, Ersoy BA, Rice CM, de Jong YP. Kabbani M, et al. Among authors: belkaya s. Cell Rep. 2022 Sep 13;40(11):111321. doi: 10.1016/j.celrep.2022.111321. Cell Rep. 2022. PMID: 36103835 Free article.
Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment.
Gök V, Erdem Ş, Haliloğlu Y, Bişgin A, Belkaya S, Başaran KE, Canatan MF, Özcan A, Yılmaz E, Acıpayam C, Karakükcü M, Canatan H, Per H, Patıroğlu T, Eken A, Ünal E. Gök V, et al. Among authors: belkaya s. Genes Immun. 2023 Feb;24(1):12-20. doi: 10.1038/s41435-022-00191-7. Epub 2022 Dec 15. Genes Immun. 2023. PMID: 36517554
Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis.
Tepe ZG, Yazıcı YY, Tank U, Köse LI, Özer M, Aytekin C, Belkaya S. Tepe ZG, et al. Among authors: belkaya s. J Clin Immunol. 2023 Jan;43(1):192-205. doi: 10.1007/s10875-022-01369-4. Epub 2022 Oct 7. J Clin Immunol. 2023. PMID: 36205835 Free PMC article.
Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency.
Korol CB, Belkaya S, Alsohime F, Lorenzo L, Boisson-Dupuis S, Brancale J, Neehus AL, Vilarinho S, Zobaida A, Halwani R, Al-Muhsen S, Casanova JL, Jouanguy E. Korol CB, et al. Among authors: belkaya s. J Clin Immunol. 2023 Feb;43(2):406-420. doi: 10.1007/s10875-022-01376-5. Epub 2022 Oct 29. J Clin Immunol. 2023. PMID: 36308662 Free PMC article.
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.
Belkaya S, Kontorovich AR, Byun M, Mulero-Navarro S, Bajolle F, Cobat A, Josowitz R, Itan Y, Quint R, Lorenzo L, Boucherit S, Stoven C, Di Filippo S, Abel L, Zhang SY, Bonnet D, Gelb BD, Casanova JL. Belkaya S, et al. J Am Coll Cardiol. 2017 Apr 4;69(13):1653-1665. doi: 10.1016/j.jacc.2017.01.043. J Am Coll Cardiol. 2017. PMID: 28359509 Free PMC article.
Inherited IL-18BP deficiency in human fulminant viral hepatitis.
Belkaya S, Michailidis E, Korol CB, Kabbani M, Cobat A, Bastard P, Lee YS, Hernandez N, Drutman S, de Jong YP, Vivier E, Bruneau J, Béziat V, Boisson B, Lorenzo-Diaz L, Boucherit S, Sebagh M, Jacquemin E, Emile JF, Abel L, Rice CM, Jouanguy E, Casanova JL. Belkaya S, et al. J Exp Med. 2019 Aug 5;216(8):1777-1790. doi: 10.1084/jem.20190669. Epub 2019 Jun 18. J Exp Med. 2019. PMID: 31213488 Free PMC article.
26 results