Colina M; Pippucci T; Moro MA; Marconi C; Magini P; Ciancio G; Romeo G; Trotta F; Seri M., Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved?, «CLINICAL AND EXPERIMENTAL RHEUMATOLOGY», 2012, 30(3), pp. 451 - 451 [Scientific article]
Pippucci T.; Benelli M.; Magi A.; Martelli P.L.; Magini P.; Torricelli F.; Casadio R.; Seri M.; Romeo G., EX-HOM (EXome-HOMozygosity): a proof of principle, «HUMAN HEREDITY», 2011, 72, pp. 45 - 53 [Scientific article]
Garone C; Pippucci T; Cordelli DM; Zuntini R; Castegnaro G; Marconi C; Graziano C; Marchiani V; Verrotti A; Seri M; Franzoni E., FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype., «DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY», 2011, 53, pp. 958 - 961 [Scientific article]
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., Linkage exclusion in Italian families with hereditary essential tremor., «EUROPEAN JOURNAL OF NEUROLOGY», 2011, 18, pp. 118 - 120 [Scientific article]
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., Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families., «BLOOD», 2011, 117, pp. 6673 - 6680 [Scientific article]
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, Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2, «AMERICAN JOURNAL OF HUMAN GENETICS», 2011, 88, pp. 115 - 120 [Scientific article]
Ferrero G.B.; Baldassarre G.; Panza E.; Valenzise M.; Pippucci T.; Mussa A.; Pepe E.; Seri M.; Silengo M.C., A heritable cause of cleft lip and palate - Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis., «EUROPEAN JOURNAL OF PEDIATRICS», 2010, 169, pp. 223 - 228 [Scientific article]
Pippucci T.; Panza E.; Pompilii E.; Donadio V.; Borreca A.; Babalini C.; Patrono C.; Zuntini R.; Kawarai T.; Bernardi G.; Liguori R.; Romeo G.; Montagna P.; Orlacchio A.; Seri M., Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity., «EUROPEAN JOURNAL OF NEUROLOGY», 2009, 16, pp. 121 - 126 [Scientific article]
Panza E; Pippucci T; Cusano R; Lo Nigro C; Pradella L; Contardi S; Rouleau GA; Stevanin G; Ravazzolo R; Liguori R; Montagna P; Romeo G; Seri M., Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes., «EUROPEAN JOURNAL OF NEUROLOGY», 2008, 15(5), pp. 520 - 524 [Scientific article]
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., A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24., «EUROPEAN JOURNAL OF HUMAN GENETICS», 2007, 15, pp. 889 - 897 [Scientific article]
