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Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B. Ducamp S, et al. Among authors: matthes t. Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21309041
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, Grandchamp B, May A. Kannengiesser C, et al. Among authors: matthes t. Haematologica. 2011 Jun;96(6):808-13. doi: 10.3324/haematol.2010.039164. Epub 2011 Mar 10. Haematologica. 2011. PMID: 21393332 Free PMC article.
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C, Le Rouzic MA, Leblanc T, Fouyssac F, Leverger G, Hessissen L, Marlin S, Bourrat E, Fahd M, Raffoux E, Vannier JP, Jäkel N, Knoefler R, Triolo V, Pasquet M, Bayart S, Thuret I, Lutz P, Vermylen C, Touati M, Rose C, Matthes T, Isidor B, Kannengiesser C, Ducassou S. Fouquet C, et al. Among authors: matthes t. Br J Haematol. 2019 Nov;187(4):530-542. doi: 10.1111/bjh.16100. Epub 2019 Jul 23. Br J Haematol. 2019. PMID: 31338833 Free article.
Accurate classification of plasma cell dyscrasias is achieved by combining artificial intelligence and flow cytometry.
Clichet V, Harrivel V, Delette C, Guiheneuf E, Gautier M, Morel P, Assouan D, Merlusca L, Beaumont M, Lebon D, Caulier A, Marolleau JP, Matthes T, Vergez F, Garçon L, Boyer T. Clichet V, et al. Among authors: matthes t. Br J Haematol. 2022 Mar;196(5):1175-1183. doi: 10.1111/bjh.17933. Epub 2021 Nov 3. Br J Haematol. 2022. PMID: 34730236
[Sideroblastic anemias].
Matthes T. Matthes T. Ther Umsch. 2006 Jan;63(1):25-33. doi: 10.1024/0040-5930.63.1.25. Ther Umsch. 2006. PMID: 16450732 Review. German.
131 results