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Page 1
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
van Dijk MJ, van Oirschot BA, Stam-Slob MC, Waanders E, van der Zwaag B, van Beers EJ, Jans JJM, van der Linden PW, Torregrosa Diaz JM, Gardie B, Girodon F, Schots R, Thielen N, van Wijk R. van Dijk MJ, et al. Among authors: gardie b. Br J Haematol. 2023 Jan;200(2):249-255. doi: 10.1111/bjh.18485. Epub 2022 Sep 30. Br J Haematol. 2023. PMID: 36177683 Free PMC article. Review.
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro ML, McMullin MF, Cario H; ECE-Consortium; Chauveau A, Gimenez-Roqueplo AP, Bressac-de-Paillerets B, Altindirek D, Lorenzo F, Lambert F, Dan H, Gad-Lapiteau S, Catarina Oliveira A, Rossi C, Fraga C, Taradin G, Martin-Nuñez G, Vitória H, Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques da Costa R, Beshara S, Ben-Ami T, Ugo V; ECE-Consortium. Bento C, et al. Among authors: gardie b. Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22. Hum Mutat. 2014. PMID: 24115288
Gene panel sequencing in idiopathic erythrocytosis.
Girodon F, Airaud F, Garrec C, Bézieau S, Gardie B. Girodon F, et al. Among authors: gardie b. 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: gardie b. 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: gardie b. 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.
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: gardie 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.
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: gardie 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.
51 results