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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: hermouet s. Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22. Hum Mutat. 2014. PMID: 24115288
Clinical utility gene card for: hereditary thrombocythemia.
Hussein K, Percy M, McMullin MF, Schwarz J, Schnittger S, Porret N, Martinez-Aviles LM, Paricio BB, Giraudier S, Skoda R, Lippert E, Hermouet S, Cario H. Hussein K, et al. Among authors: hermouet s. Eur J Hum Genet. 2014 Feb;22(2). doi: 10.1038/ejhg.2013.117. Epub 2013 Jun 5. Eur J Hum Genet. 2014. PMID: 23736217 Free PMC article. No abstract available.
Molecular diagnostics of myeloproliferative neoplasms.
Langabeer SE, Andrikovics H, Asp J, Bellosillo B, Carillo S, Haslam K, Kjaer L, Lippert E, Mansier O, Oppliger Leibundgut E, Percy MJ, Porret N, Palmqvist L, Schwarz J, McMullin MF, Schnittger S, Pallisgaard N, Hermouet S; MPN&MPNr-EuroNet. Langabeer SE, et al. Among authors: hermouet s. Eur J Haematol. 2015 Oct;95(4):270-9. doi: 10.1111/ejh.12578. Epub 2015 May 18. Eur J Haematol. 2015. PMID: 25951317 Review.
Clonal analysis of deletions on chromosome 20q and JAK2-V617F in MPD suggests that del20q acts independently and is not one of the predisposing mutations for JAK2-V617F.
Schaub FX, Jäger R, Looser R, Hao-Shen H, Hermouet S, Girodon F, Tichelli A, Gisslinger H, Kralovics R, Skoda RC. Schaub FX, et al. Among authors: hermouet s. Blood. 2009 Feb 26;113(9):2022-7. doi: 10.1182/blood-2008-07-167056. Epub 2008 Dec 1. Blood. 2009. PMID: 19047681 Free article.
96 results