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Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.
Iolascon A, Russo R, Esposito MR, Asci R, Piscopo C, Perrotta S, Fénéant-Thibault M, Garçon L, Delaunay J. Iolascon A, et al. Among authors: feneant thibault m. Haematologica. 2010 May;95(5):708-15. doi: 10.3324/haematol.2009.014985. Epub 2009 Dec 16. Haematologica. 2010. PMID: 20015893 Free PMC article.
Congenital dyserythropoietic anemias.
Tchernia G, Bader-Meunier B, Beauchamp-Nicoud A, Cynober T, Fénéant-Thibault M, Delaunay J. Tchernia G, et al. Hematol J. 2004;5 Suppl 3:S191-4. doi: 10.1038/sj.thj.6200451. Hematol J. 2004. PMID: 15190307 Review. No abstract available.
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Albuisson J, Murthy SE, Bandell M, Coste B, Louis-Dit-Picard H, Mathur J, Fénéant-Thibault M, Tertian G, de Jaureguiberry JP, Syfuss PY, Cahalan S, Garçon L, Toutain F, Simon Rohrlich P, Delaunay J, Picard V, Jeunemaitre X, Patapoutian A. Albuisson J, et al. Among authors: feneant thibault m. Nat Commun. 2013;4:1884. doi: 10.1038/ncomms2899. Nat Commun. 2013. PMID: 23695678 Free PMC article.
Usefulness of the eosin-5'-maleimide cytometric method as a first-line screening test for the diagnosis of hereditary spherocytosis: comparison with ektacytometry and protein electrophoresis.
Girodon F, Garçon L, Bergoin E, Largier M, Delaunay J, Fénéant-Thibault M, Maynadié M, Couillaud G, Moreira S, Cynober T. Girodon F, et al. Among authors: feneant thibault m. Br J Haematol. 2008 Feb;140(4):468-70. doi: 10.1111/j.1365-2141.2007.06944.x. Epub 2007 Dec 19. Br J Haematol. 2008. PMID: 18162119 Free article. No abstract available.
Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis.
Baklouti F, Morinière M, Haj-Khélil A, Fénéant-Thibault M, Gruffat H, Couté Y, Ninot A, Guitton C, Delaunay J. Baklouti F, et al. Among authors: feneant thibault m. Blood Cells Mol Dis. 2011 Oct 15;47(3):158-65. doi: 10.1016/j.bcmd.2011.07.001. Epub 2011 Aug 11. Blood Cells Mol Dis. 2011. PMID: 21839655
18 results