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Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A, Rosano C, Pannone L, Pinna V, Assunto A, Motta M, Ugga L, Daniele P, Mandile R, Mariniello L, Siano MA, Santoro C, Piluso G, Martinelli S, Strisciuglio P, De Luca A, Tartaglia M, Melis D. D'Amico A, et al. Among authors: tartaglia m. Clin Genet. 2021 Nov;100(5):563-572. doi: 10.1111/cge.14040. Epub 2021 Aug 17. Clin Genet. 2021. PMID: 34346503
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
Tartaglia M, Martinelli S, Cazzaniga G, Cordeddu V, Iavarone I, Spinelli M, Palmi C, Carta C, Pession A, Aricò M, Masera G, Basso G, Sorcini M, Gelb BD, Biondi A. Tartaglia M, et al. Blood. 2004 Jul 15;104(2):307-13. doi: 10.1182/blood-2003-11-3876. Epub 2004 Feb 24. Blood. 2004. PMID: 14982869 Free article.
Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia.
Loh ML, Martinelli S, Cordeddu V, Reynolds MG, Vattikuti S, Lee CM, Wulfert M, Germing U, Haas P, Niemeyer C, Beran ME, Strom S, Lübbert M, Sorcini M, Estey EH, Gattermann N, Tartaglia M. Loh ML, et al. Among authors: tartaglia m. Leuk Res. 2005 Apr;29(4):459-62. doi: 10.1016/j.leukres.2004.10.001. Epub 2004 Dec 30. Leuk Res. 2005. PMID: 15725481
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
Tartaglia M, Martinelli S, Iavarone I, Cazzaniga G, Spinelli M, Giarin E, Petrangeli V, Carta C, Masetti R, Aricò M, Locatelli F, Basso G, Sorcini M, Pession A, Biondi A. Tartaglia M, et al. Br J Haematol. 2005 May;129(3):333-9. doi: 10.1111/j.1365-2141.2005.05457.x. Br J Haematol. 2005. PMID: 15842656 Free article.
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: tartaglia m. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.
829 results