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Page 1
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, Renaud N, Gil M, Chevalier S, Chahla WA, Bader-Meunier B, Barlogis V, Blanche S, Boutboul D, Castelle M, Comont T, Diana JS, Fieschi C, Galicier L, Hermine O, Lefèvre-Utile A, Malphettes M, Merlin E, Oksenhendler E, Pasquet M, Suarez F, André I, Béziat V, De Saint Basile G, De Villartay JP, Kracker S, Lagresle-Peyrou C, Latour S, Rieux-Laucat F, Mahlaoui N, Bole C, Nitschke P, Hulier-Ammar E, Fischer A, Moshous D, Neven B, Alcais A, Vogt G, Bustamante J, Picard C. Fusaro M, et al. Among authors: hanein s. J Allergy Clin Immunol. 2021 Feb;147(2):734-737. doi: 10.1016/j.jaci.2020.05.046. Epub 2020 Jun 10. J Allergy Clin Immunol. 2021. PMID: 32531373 No abstract available.
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM. Fares-Taie L, et al. Among authors: hanein s. Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9. Am J Hum Genet. 2013. PMID: 23312594 Free PMC article.
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.
Guffroy A, Mourot-Cottet R, Gérard L, Gies V, Lagresle C, Pouliet A, Nitschké P, Hanein S, Bienvenu B, Chanet V, Donadieu J, Gardembas M, Karmochkine M, Nove-Josserand R, Martin T, Poindron V, Soulas-Sprauel P, Rieux-Laucat F, Fieschi C, Oksenhendler E, André-Schmutz I, Korganow AS; DEFI study group. Guffroy A, et al. Among authors: hanein s. J Clin Immunol. 2017 Oct;37(7):715-726. doi: 10.1007/s10875-017-0434-2. Epub 2017 Aug 26. J Clin Immunol. 2017. PMID: 28842786
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.
Charbit-Henrion F, Parlato M, Hanein S, Duclaux-Loras R, Nowak J, Begue B, Rakotobe S, Bruneau J, Fourrage C, Alibeu O, Rieux-Laucat F, Lévy E, Stolzenberg MC, Mazerolles F, Latour S, Lenoir C, Fischer A, Picard C, Aloi M, Dias JA, Hariz MB, Bourrier A, Breuer C, Breton A, Bronsky J, Buderus S, Cananzi M, Coopman S, Crémilleux C, Dabadie A, Dumant-Forest C, Gurkan OE, Fabre A, Fischer A, Diaz MG, Gonzalez-Lama Y, Goulet O, Guariso G, Gurcan N, Homan M, Hugot JP, Jeziorski E, Karanika E, Lachaux A, Lewindon P, Lima R, Magro F, Major J, Malamut G, Mas E, Mattyus I, Mearin LM, Melek J, Navas-Lopez VM, Paerregaard A, Pelatan C, Pigneur B, Pais IP, Rebeuh J, Romano C, Siala N, Strisciuglio C, Tempia-Caliera M, Tounian P, Turner D, Urbonas V, Willot S, Ruemmele FM, Cerf-Bensussan N. Charbit-Henrion F, et al. Among authors: hanein s. J Crohns Colitis. 2018 Aug 29;12(9):1104-1112. doi: 10.1093/ecco-jcc/jjy068. J Crohns Colitis. 2018. PMID: 29788237 Free PMC article.
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: hanein s. PLoS One. 2018 Oct 26;13(10):e0205826. doi: 10.1371/journal.pone.0205826. eCollection 2018. PLoS One. 2018. PMID: 30365510 Free PMC article.
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.
Hadjadj J, Aladjidi N, Fernandes H, Leverger G, Magérus-Chatinet A, Mazerolles F, Stolzenberg MC, Jacques S, Picard C, Rosain J, Fourrage C, Hanein S, Zarhrate M, Pasquet M, Abou Chahla W, Barlogis V, Bertrand Y, Pellier I, Colomb Bottollier E, Fouyssac F, Blouin P, Thomas C, Cheikh N, Dore E, Pondarre C, Plantaz D, Jeziorski E, Millot F, Garcelon N, Ducassou S, Perel Y, Leblanc T, Neven B, Fischer A, Rieux-Laucat F; members of the French Reference Center for Pediatric Autoimmune Cytopenia (CEREVANCE). Hadjadj J, et al. Among authors: hanein s. Blood. 2019 Jul 4;134(1):9-21. doi: 10.1182/blood-2018-11-887141. Epub 2019 Apr 2. Blood. 2019. PMID: 30940614 Free article.
Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study.
Charbit-Henrion F, Parlato M, Hanein S, Duclaux-Loras R, Nowak J, Begue B, Rakotobe S, Bruneau J, Fourrage C, Alibeu O, Rieux-Laucat F, Lévy E, Stolzenberg MC, Mazerolles F, Latour S, Lenoir C, Fischer A, Picard C, Aloi M, Dias JA, Hariz MB, Bourrier A, Breuer C, Breton A, Bronsky J, Buderus S, Cananzi M, Coopman S, Crémilleux C, Dabadie A, Dumant-Forest C, Gurkan OE, Fabre A, Fischer A, Diaz MG, Gonzalez-Lama Y, Goulet O, Guariso G, Gurcan N, Homan M, Hugot JP, Jeziorski E, Karanika E, Lachaux A, Lewindon P, Lima R, Magro F, Major J, Malamut G, Mas E, Mattyus I, Mearin LM, Melek J, Navas-Lopez VM, Paerregaard A, Pelatan C, Pigneur B, Pais IP, Rebeuh J, Romano C, Siala N, Strisciuglio C, Tempia-Caliera M, Tounian P, Turner D, Urbonas V, Willot S, Ruemmele FM, Cerf-Bensussan N. Charbit-Henrion F, et al. Among authors: hanein s. J Crohns Colitis. 2021 Mar 5;15(3):517-518. doi: 10.1093/ecco-jcc/jjaa164. J Crohns Colitis. 2021. PMID: 32895718 Free PMC article. No abstract available.
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.
Perrault I, Hanein S, Gérard X, Mounguengue N, Bouyakoub R, Zarhrate M, Fourrage C, Jabot-Hanin F, Bocquet B, Meunier I, Zanlonghi X, Kaplan J, Rozet JM. Perrault I, et al. Among authors: hanein s. Genes (Basel). 2021 Feb 18;12(2):287. doi: 10.3390/genes12020287. Genes (Basel). 2021. PMID: 33670832 Free PMC article.
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.
Stoupa A, Al Hage Chehade G, Chaabane R, Kariyawasam D, Szinnai G, Hanein S, Bole-Feysot C, Fourrage C, Nitschke P, Thalassinos C, Pinto G, Mnif M, Baron S, De Kerdanet M, Reynaud R, Barat P, Hachicha M, Belguith N, Polak M, Carré A. Stoupa A, et al. Among authors: hanein s. Front Endocrinol (Lausanne). 2021 Feb 22;11:545339. doi: 10.3389/fendo.2020.545339. eCollection 2020. Front Endocrinol (Lausanne). 2021. PMID: 33692749 Free PMC article.
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Perrault I, et al. Among authors: hanein s. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503633 Free PMC article.
60 results