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

Year Number of Results
2002 1
2003 1
2007 1
2008 1
2009 5
2010 2
2011 4
2012 5
2013 7
2014 5
2015 3
2017 2
2018 4
2019 3
2020 2
2021 2
2023 4
2024 1

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43 results

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Page 1
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M, Le Roy A, Pacault M, Schmitt L, Garrec C, Maaziz N, Myllykoski M, Rimbert A, Karaghiannis V, Aral B, Catherwood M, Airaud F, Mansour-Hendili L, Hoogewijs D, Peroni E, Idriss S, Lesieur V, Caillaud A, Si-Tayeb K, Chariau C, Gaignerie A, Rab M, Haferlach T, Meggendorfer M, Bézieau S, Benetti A, Casadevall N, Hirsch P, Rose C, Wemeau M, Galacteros F, Cassinat B, Bellosillo B, Bento C, Van Wijk R, Petrides PE, Randi ML, McMullin MF, Koivunen P, Girodon F, Gardie B; ECYT-3 consortium. Delamare M, et al. Among authors: aral b. Haematologica. 2023 Nov 1;108(11):3068-3085. doi: 10.3324/haematol.2023.282913. Haematologica. 2023. PMID: 37317877 Free PMC article.
Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Maaziz N, Garrec C, Airaud F, Bobée V, Contentin N, Cayssials E, Rimbert A, Aral B, Bézieau S, Gardie B, Girodon F. Maaziz N, et al. Among authors: aral b. Genes (Basel). 2023 May 11;14(5):1066. doi: 10.3390/genes14051066. Genes (Basel). 2023. PMID: 37239426 Free PMC article.
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Thevenon J, Safraou H, Besnard T, Goldenberg A, Cogné B, Isidor B, Delanne J, Sorlin A, Moutton S, Fradin M, Dubourg C, Gorce M, Bonneau D, El Chehadeh S, Debray FG, Doco-Fenzy M, Uguen K, Chatron N, Aral B, Marle N, Kuentz P, Boland A, Olaso R, Deleuze JF, Sanlaville D, Callier P, Philippe C, Thauvin-Robinet C, Faivre L, Vitobello A. Colin E, et al. Among authors: aral b. Front Cell Dev Biol. 2023 Feb 28;11:1021920. doi: 10.3389/fcell.2023.1021920. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36926521 Free PMC article.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, Delamare M, Rab M, Bézieau S, Cassinat B, Galacteros F, Gimenez-Roqueplo AP, Burnichon N, Cario H, Van Wijk R, Bento C, Girodon F, Hoogewijs D, Gardie B. Karaghiannis V, et al. Among authors: aral b. Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698. Haematologica. 2023. PMID: 36700397 Free PMC article.
Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis.
Filser M, Giansily-Blaizot M, Grenier M, Monedero Alonso D, Bouyer G, Pérès L, Egée S, Aral B, Airaud F, Da Costa L, Picard V, Cougoul P, Palach M, Béziau S, Garrec C, Aguilar-Martinez P, Gardie B, Girodon F. Filser M, et al. Among authors: aral b. Blood. 2021 Apr 1;137(13):1828-1832. doi: 10.1182/blood.2020008424. Blood. 2021. PMID: 33181827 Free article. No abstract available.
Diagnosis of exon 12-positive polycythemia vera rescued by NGS.
Geay A, Aral B, Bourgeois V, Martin P, Airaud F, Garrec C, Bézieau S, Gardie B, Girodon F. Geay A, et al. Among authors: aral b. Clin Case Rep. 2020 Mar 21;8(5):790-792. doi: 10.1002/ccr3.2720. eCollection 2020 May. Clin Case Rep. 2020. PMID: 32477518 Free PMC article.
Low incidence of EPOR mutations in idiopathic erythrocytosis.
Filser M, Aral B, Airaud F, Chauveau A, Bruce A, Polfrit Y, Thiebaut A, Gauthier M, Le Maréchal C, Lippert E, Béziau S, Garrec C, Gardie B, Girodon F. Filser M, et al. Among authors: aral b. Haematologica. 2021 Jan 1;106(1):299-301. doi: 10.3324/haematol.2019.244160. Haematologica. 2021. PMID: 32165487 Free PMC article. No abstract available.
Impact of interferon on a triple positive polycythemia vera.
Campario H, Mosca M, Aral B, Bourgeois V, Martin P, Brustel A, Filser M, Marzac C, Plo I, Girodon F. Campario H, et al. Among authors: aral b. Leukemia. 2020 Apr;34(4):1210-1212. doi: 10.1038/s41375-019-0636-0. Epub 2019 Nov 14. Leukemia. 2020. PMID: 31728058 No abstract available.
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.
Duplomb L, Rivière J, Jego G, Da Costa R, Hammann A, Racine J, Schmitt A, Droin N, Capron C, Gougerot-Pocidalo MA, Dubrez L, Aral B, Lafon A, Edery P, Ghoumid J, Blair E, El Chehadeh-Djebbar S, Carmignac V, Thevenon J, Guy J, Girodon F, Bastie JN, Delva L, Faivre L, Thauvin-Robinet C, Solary E. Duplomb L, et al. Among authors: aral b. J Mol Med (Berl). 2019 May;97(5):633-645. doi: 10.1007/s00109-019-01754-4. Epub 2019 Mar 7. J Mol Med (Berl). 2019. PMID: 30843084
43 results