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Page 1
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, Zecca M, Scognamiglio F, De Rocco D, Punzo F, Melazzini F, Scianguetta S, Casale M, Marconi C, Pippucci T, Amendola G, Notarangelo LD, Klersy C, Civaschi E, Balduini CL, Savoia A. Noris P, et al. Among authors: scianguetta s. Blood. 2011 Jun 16;117(24):6673-80. doi: 10.1182/blood-2011-02-336537. Epub 2011 Apr 5. Blood. 2011. PMID: 21467542 Free article.
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffredo G, Di Salvo V, Russo G, Casale M, De Rocco D, Grignani C, Cattaneo M, Baronci C, Dragani A, Albano V, Jankovic M, Scianguetta S, Savoia A, Balduini CL. Noris P, et al. Among authors: scianguetta s. Haematologica. 2012 Jan;97(1):82-8. doi: 10.3324/haematol.2011.050682. Epub 2011 Sep 20. Haematologica. 2012. PMID: 21933849 Free PMC article.
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
Perrotta S, Stiehl DP, Punzo F, Scianguetta S, Borriello A, Bencivenga D, Casale M, Nobili B, Fasoli S, Balduzzi A, Cro L, Nytko KJ, Wenger RH, Della Ragione F. Perrotta S, et al. Among authors: scianguetta s. Haematologica. 2013 Oct;98(10):1624-32. doi: 10.3324/haematol.2013.088369. Epub 2013 May 28. Haematologica. 2013. PMID: 23716564 Free PMC article.
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
Santoro C, Pacileo G, Limongelli G, Scianguetta S, Giugliano T, Piluso G, Ragione FD, Cirillo M, Mirone G, Perrotta S. Santoro C, et al. Among authors: scianguetta s. BMC Med Genet. 2014 Apr 26;15:44. doi: 10.1186/1471-2350-15-44. BMC Med Genet. 2014. PMID: 24767283 Free PMC article.
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations.
Perrotta S, Di Iorgi N, Ragione FD, Scianguetta S, Borriello A, Allegri AE, Ferraro M, Santoro C, Napoli F, Calcagno A, Giaccardi M, Cappa M, Salerno MC, Cozzolino D, Maghnie M. Perrotta S, et al. Among authors: scianguetta s. Eur J Endocrinol. 2015 Apr;172(4):461-72. doi: 10.1530/EJE-14-0942. Eur J Endocrinol. 2015. PMID: 25740874
Iron overload enhances human mesenchymal stromal cell growth and hampers matrix calcification.
Borriello A, Caldarelli I, Speranza MC, Scianguetta S, Tramontano A, Bencivenga D, Stampone E, Negri A, Nobili B, Locatelli F, Perrotta S, Oliva A, Della Ragione F. Borriello A, et al. Among authors: scianguetta s. Biochim Biophys Acta. 2016 Jun;1860(6):1211-23. doi: 10.1016/j.bbagen.2016.01.025. Epub 2016 Feb 3. Biochim Biophys Acta. 2016. PMID: 26850692
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