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Page 1
Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura.
Moatti-Cohen M, Garrec C, Wolf M, Boisseau P, Galicier L, Azoulay E, Stepanian A, Delmas Y, Rondeau E, Bezieau S, Coppo P, Veyradier A; French Reference Center for Thrombotic Microangiopathies. Moatti-Cohen M, et al. Among authors: garrec c. Blood. 2012 Jun 14;119(24):5888-97. doi: 10.1182/blood-2012-02-408914. Epub 2012 Apr 30. Blood. 2012. PMID: 22547583 Free article.
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.
ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome.
Joly BS, Boisseau P, Roose E, Stepanian A, Biebuyck N, Hogan J, Provot F, Delmas Y, Garrec C, Vanhoorelbeke K, Coppo P, Veyradier A; French Reference Center for Thrombotic Microangiopathies. Joly BS, et al. Among authors: garrec c. Thromb Haemost. 2018 Nov;118(11):1902-1917. doi: 10.1055/s-0038-1673686. Epub 2018 Oct 12. Thromb Haemost. 2018. PMID: 30312976
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.
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.
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: garrec c. Haematologica. 2023 Nov 1;108(11):3068-3085. doi: 10.3324/haematol.2023.282913. Haematologica. 2023. PMID: 37317877 Free PMC article.
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.
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: garrec c. Genes (Basel). 2023 May 11;14(5):1066. doi: 10.3390/genes14051066. Genes (Basel). 2023. PMID: 37239426 Free PMC article.
26 results