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Page 1
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: garrec c. Haematologica. 2021 Jan 1;106(1):299-301. doi: 10.3324/haematol.2019.244160. Haematologica. 2021. PMID: 32165487 Free PMC article. No abstract available.
Gene panel sequencing in idiopathic erythrocytosis.
Girodon F, Airaud F, Garrec C, Bézieau S, Gardie B. Girodon F, et al. Among authors: garrec c. Haematologica. 2017 Jan;102(1):e30. doi: 10.3324/haematol.2016.158337. Haematologica. 2017. PMID: 28040788 Free PMC article. No abstract available.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B. Lenglet M, et al. Among authors: garrec c. Blood. 2018 Aug 2;132(5):469-483. doi: 10.1182/blood-2018-03-838235. Epub 2018 Jun 11. Blood. 2018. PMID: 29891534 Free article.
High HFE mutation incidence in idiopathic erythrocytosis.
Burlet B, Bourgeois V, Buriller C, Aral B, Airaud F, Garrec C, Bézieau S, Gardie B, Girodon F. Burlet B, et al. Among authors: garrec c. Br J Haematol. 2019 May;185(4):794-795. doi: 10.1111/bjh.15631. Epub 2018 Nov 8. Br J Haematol. 2019. PMID: 30407617 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: garrec c. 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.
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: garrec c. Blood. 2021 Apr 1;137(13):1828-1832. doi: 10.1182/blood.2020008424. Blood. 2021. PMID: 33181827 Free article. No abstract available.
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.
Pierre-Noël E, Airaud F, Cauchin E, Garrec C, Ricordeau I, Michon C, Kerdraon O, Bezieau S, Abadie C. Pierre-Noël E, et al. Among authors: garrec c. Fam Cancer. 2022 Jul;21(3):319-324. doi: 10.1007/s10689-021-00274-w. Epub 2021 Sep 14. Fam Cancer. 2022. PMID: 34519923
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: garrec c. Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698. Haematologica. 2023. PMID: 36700397 Free PMC article.
24 results