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Page 1
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. Mencarelli MA, et al. Among authors: spanhol rosseto a. J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2. J Med Genet. 2010. PMID: 19578037
FOXG1 is responsible for the congenital variant of Rett syndrome.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A. Ariani F, et al. Among authors: spanhol rosseto a. Am J Hum Genet. 2008 Jul;83(1):89-93. doi: 10.1016/j.ajhg.2008.05.015. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571142 Free PMC article.
BRAF inhibitors reverse the unique molecular signature and phenotype of hairy cell leukemia and exert potent antileukemic activity.
Pettirossi V, Santi A, Imperi E, Russo G, Pucciarini A, Bigerna B, Schiavoni G, Fortini E, Spanhol-Rosseto A, Sportoletti P, Mannucci R, Martelli MP, Klein-Hitpass L, Falini B, Tiacci E. Pettirossi V, et al. Among authors: spanhol rosseto a. Blood. 2015 Feb 19;125(8):1207-16. doi: 10.1182/blood-2014-10-603100. Epub 2014 Dec 5. Blood. 2015. PMID: 25480661 Free PMC article. Clinical Trial.
Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype.
Grossmann V, Tiacci E, Holmes AB, Kohlmann A, Martelli MP, Kern W, Spanhol-Rosseto A, Klein HU, Dugas M, Schindela S, Trifonov V, Schnittger S, Haferlach C, Bassan R, Wells VA, Spinelli O, Chan J, Rossi R, Baldoni S, De Carolis L, Goetze K, Serve H, Peceny R, Kreuzer KA, Oruzio D, Specchia G, Di Raimondo F, Fabbiano F, Sborgia M, Liso A, Farinelli L, Rambaldi A, Pasqualucci L, Rabadan R, Haferlach T, Falini B. Grossmann V, et al. Among authors: spanhol rosseto a. Blood. 2011 Dec 1;118(23):6153-63. doi: 10.1182/blood-2011-07-365320. Epub 2011 Oct 19. Blood. 2011. PMID: 22012066 Free article.
The gene mutation landscape of acute myeloid leukemia cell lines and its exemplar use to study the BCOR tumor suppressor.
Pettirossi V, Venanzi A, Spanhol-Rosseto A, Schiavoni G, Santi A, Tasselli L, Naccari M, Pensato V, Pucciarini A, Martelli MP, Drexler H, Falini B, Tiacci E. Pettirossi V, et al. Among authors: spanhol rosseto a. Leukemia. 2023 Feb;37(2):473-477. doi: 10.1038/s41375-022-01788-7. Epub 2023 Jan 12. Leukemia. 2023. PMID: 36635390 No abstract available.