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A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24.
Deglincerti A, De Giorgio R, Cefle K, Devoto M, Pippucci T, Castegnaro G, Panza E, Barbara G, Cogliandro RF, Mungan Z, Palanduz S, Corinaldesi R, Romeo G, Seri M, Stanghellini V. Deglincerti A, et al. Among authors: pippucci t. Eur J Hum Genet. 2007 Aug;15(8):889-97. doi: 10.1038/sj.ejhg.5201844. Epub 2007 May 9. Eur J Hum Genet. 2007. PMID: 17487221
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. 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.
Linkage exclusion in Italian families with hereditary essential tremor.
Novelletto A, Gulli R, Ciotti P, Vitale C, Malaspina P, Blasi P, Pippucci T, Seri M, Cozzolino A, Bilo L, Abbruzzese G, Martinelli P, Bellone E, Barone P, Mandich P. Novelletto A, et al. Among authors: pippucci t. Eur J Neurol. 2011 Sep;18(9):e118-20. doi: 10.1111/j.1468-1331.2011.03458.x. Eur J Neurol. 2011. PMID: 21834898 No abstract available.
EX-HOM (EXome HOMozygosity): a proof of principle.
Pippucci T, Benelli M, Magi A, Martelli PL, Magini P, Torricelli F, Casadio R, Seri M, Romeo G. Pippucci T, et al. Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18. Hum Hered. 2011. PMID: 21849793 Free article.
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
Marconi C, Brunamonti Binello P, Badiali G, Caci E, Cusano R, Garibaldi J, Pippucci T, Merlini A, Marchetti C, Rhoden KJ, Galietta LJ, Lalatta F, Balbi P, Seri M. Marconi C, et al. Among authors: pippucci t. Eur J Hum Genet. 2013 Jun;21(6):613-9. doi: 10.1038/ejhg.2012.224. Epub 2012 Oct 10. Eur J Hum Genet. 2013. PMID: 23047743 Free PMC article.
121 results