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Year Number of Results
1997 1
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2002 2
2007 1
2008 2
2010 2
2011 4
2012 2
2013 3
2014 4
2015 3
2016 1
2017 3
2018 4
2019 2
2020 6
2021 4
2022 5
2023 5
2024 4

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52 results

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Page 1
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefèvre S, Perrier-Trudova V, Rustin P, Barrois M, Slama A, Avril MF, Bessis D, Caron O, Caux F, Collignon P, Coupier I, Cremin C, Dollfus H, Dugast C, Escudier B, Faivre L, Field M, Gilbert-Dussardier B, Janin N, Leport Y, Leroux D, Lipsker D, Malthieu F, McGilliwray B, Maugard C, Méjean A, Mortemousque I, Plessis G, Poppe B, Pruvost-Balland C, Rooker S, Roume J, Soufir N, Steinraths M, Tan MH, Théodore C, Thomas L, Vabres P, Van Glabeke E, Meric JB, Verkarre V, Lenoir G, Joulin V, Deveaux S, Cusin V, Feunteun J, Teh BT, Bressac-de Paillerets B, Richard S; French National Cancer Institute "Inherited predisposition to kidney cancer" network. Gardie B, et al. J Med Genet. 2011 Apr;48(4):226-34. doi: 10.1136/jmg.2010.085068. Epub 2011 Mar 12. J Med Genet. 2011. PMID: 21398687 Free article.
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: gardie b. Haematologica. 2023 Nov 1;108(11):3068-3085. doi: 10.3324/haematol.2023.282913. Haematologica. 2023. PMID: 37317877 Free PMC article.
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.
The role of PHD2 mutations in the pathogenesis of erythrocytosis.
Gardie B, Percy MJ, Hoogewijs D, Chowdhury R, Bento C, Arsenault PR, Richard S, Almeida H, Ewing J, Lambert F, McMullin MF, Schofield CJ, Lee FS. Gardie B, et al. Hypoxia (Auckl). 2014 Jul 1;2:71-90. doi: 10.2147/HP.S54455. eCollection 2014. Hypoxia (Auckl). 2014. PMID: 27774468 Free PMC article. Review.
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.
Von Hippel-Lindau: how a rare disease illuminates cancer biology.
Richard S, Gardie B, Couvé S, Gad S. Richard S, et al. Among authors: gardie b. Semin Cancer Biol. 2013 Feb;23(1):26-37. doi: 10.1016/j.semcancer.2012.05.005. Epub 2012 May 30. Semin Cancer Biol. 2013. PMID: 22659535 Review.
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.
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.
52 results