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Page 1
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.
Estève C, Roman C, DeLeusse C, Baravalle M, Bertaux K, Blanc F, Bourgeois P, Bresson V, Cano A, Coste ME, Delteil C, Lacoste C, Loosveld M, De Paula AM, Monnier AS, Secq V, Levy N, Badens C, Fabre A. Estève C, et al. Among authors: loosveld m. Eur J Med Genet. 2021 Oct;64(10):104294. doi: 10.1016/j.ejmg.2021.104294. Epub 2021 Aug 3. Eur J Med Genet. 2021. PMID: 34352414
A mutation in the Gardos channel is associated with hereditary xerocytosis.
Rapetti-Mauss R, Lacoste C, Picard V, Guitton C, Lombard E, Loosveld M, Nivaggioni V, Dasilva N, Salgado D, Desvignes JP, Béroud C, Viout P, Bernard M, Soriani O, Vinti H, Lacroze V, Feneant-Thibault M, Thuret I, Guizouarn H, Badens C. Rapetti-Mauss R, et al. Among authors: loosveld m. Blood. 2015 Sep 10;126(11):1273-80. doi: 10.1182/blood-2015-04-642496. Epub 2015 Jul 6. Blood. 2015. PMID: 26148990 Free article.
Early morphological diagnosis of Farber disease.
Nivaggioni V, Cano A, Arnoux I, Michel G, Loosveld M. Nivaggioni V, et al. Among authors: loosveld m. Br J Haematol. 2016 Oct;175(2):189. doi: 10.1111/bjh.14265. Epub 2016 Jul 29. Br J Haematol. 2016. PMID: 27471081 Free article. No abstract available.
Detection of unstable haemoglobin variants with Sysmex XN-10.
Combaluzier S, Loosveld M, Nivaggioni V. Combaluzier S, et al. Among authors: loosveld m. Int J Lab Hematol. 2023 Apr;45(2):e21-e23. doi: 10.1111/ijlh.13967. Epub 2022 Sep 16. Int J Lab Hematol. 2023. PMID: 36113870 No abstract available.
GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis.
Saultier P, Cabantous S, Puceat M, Peiretti F, Bigot T, Saut N, Bordet JC, Canault M, van Agthoven J, Loosveld M, Payet-Bornet D, Potier D, Falaise C, Bernot D, Morange PE, Alessi MC, Poggi M. Saultier P, et al. Among authors: loosveld m. J Thromb Haemost. 2021 Sep;19(9):2287-2301. doi: 10.1111/jth.15412. Epub 2021 Jul 10. J Thromb Haemost. 2021. PMID: 34060193 Free article.
Posttranscriptional deregulation of MYC via PTEN constitutes a major alternative pathway of MYC activation in T-cell acute lymphoblastic leukemia.
Bonnet M, Loosveld M, Montpellier B, Navarro JM, Quilichini B, Picard C, Di Cristofaro J, Bagnis C, Fossat C, Hernandez L, Mamessier E, Roulland S, Morgado E, Formisano-Tréziny C, Dik WA, Langerak AW, Prebet T, Vey N, Michel G, Gabert J, Soulier J, Macintyre EA, Asnafi V, Payet-Bornet D, Nadel B. Bonnet M, et al. Among authors: loosveld m. Blood. 2011 Jun 16;117(24):6650-9. doi: 10.1182/blood-2011-02-336842. Epub 2011 Apr 28. Blood. 2011. PMID: 21527520 Free article.
MYC fails to efficiently shape malignant transformation in T-cell acute lymphoblastic leukemia.
Loosveld M, Bonnet M, Gon S, Montpellier B, Quilichini B, Navarro JM, Crouzet T, Goujart MA, Chasson L, Morgado E, Picard C, Hernandez L, Fossat C, Gabert J, Michel G, Nadel B, Payet-Bornet D. Loosveld M, et al. Genes Chromosomes Cancer. 2014 Jan;53(1):52-66. doi: 10.1002/gcc.22117. Epub 2013 Oct 12. Genes Chromosomes Cancer. 2014. PMID: 24249258
53 results