Perrotta S - Search Results

1

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL. Pippucci T, et al. Among authors: perrotta s. Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006. Am J Hum Genet. 2011. PMID: 21211618 Free PMC article.

2

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: perrotta 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.

3

An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.

Savoia A, Del Vecchio M, Totaro A, Perrotta S, Amendola G, Moretti A, Zelante L, Iolascon A. Savoia A, et al. Among authors: perrotta s. Am J Hum Genet. 1999 Nov;65(5):1401-5. doi: 10.1086/302637. Am J Hum Genet. 1999. PMID: 10521306 Free PMC article.

4

Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, Belletti S, Poggi, Iolascon A. Savoia A, et al. Among authors: perrotta s. Blood. 2001 Mar 1;97(5):1330-5. doi: 10.1182/blood.v97.5.1330. Blood. 2001. PMID: 11222377 Free article.

5

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: perrotta 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.

6

Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin.

Savoia A, Noris P, Perrotta S, Punzo F, Rocco DD, Oostra BA, Balduini CL. Savoia A, et al. Among authors: perrotta s. Platelets. 2009 Feb;20(1):72-3. doi: 10.1080/09537100802485129. Platelets. 2009. PMID: 19172527 Free article. No abstract available.

7

A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.

Punzo F, Mientjes EJ, Rohe CF, Scianguetta S, Amendola G, Oostra BA, Bertoli-Avella AM, Perrotta S. Punzo F, et al. Among authors: perrotta s. J Thromb Haemost. 2010 Sep;8(9):2085-7. doi: 10.1111/j.1538-7836.2010.03979.x. J Thromb Haemost. 2010. PMID: 20626622 Free article. No abstract available.

8

Familial dominant thrombocytopenia: clinical, biologic, and molecular studies.

Iolascon A, Perrotta S, Amendola G, Altomare M, Bagnara GP, Del Vecchio ME, Savoia A. Iolascon A, et al. Among authors: perrotta s. Pediatr Res. 1999 Nov;46(5):548-52. doi: 10.1203/00006450-199911000-00010. Pediatr Res. 1999. PMID: 10541317

9

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.

Bluteau D, Balduini A, Balayn N, Currao M, Nurden P, Deswarte C, Leverger G, Noris P, Perrotta S, Solary E, Vainchenker W, Debili N, Favier R, Raslova H. Bluteau D, et al. Among authors: perrotta s. J Clin Invest. 2014 Feb;124(2):580-91. doi: 10.1172/JCI71861. Epub 2014 Jan 16. J Clin Invest. 2014. PMID: 24430186 Free PMC article.

10

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

Punzo F, Bertoli-Avella AM, Scianguetta S, Della Ragione F, Casale M, Ronzoni L, Cappellini MD, Forni G, Oostra BA, Perrotta S. Punzo F, et al. Among authors: perrotta s. Orphanet J Rare Dis. 2011 Dec 30;6:89. doi: 10.1186/1750-1172-6-89. Orphanet J Rare Dis. 2011. PMID: 22208203 Free PMC article.

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