Foto del docente

Tommaso Pippucci

Professore a contratto a titolo gratuito

Dipartimento di Farmacia e Biotecnologie

Dipartimento di Scienze Mediche e Chirurgiche

Pubblicazioni

Hildebrand M.S.; Tankard R.; Gazina E.V.; Damiano J.A.; Lawrence K.M.;Dahl H-H. M.; Regan B.M.; Shearer A.E.; Smith R.J.H.; Marini C.; Guerrini R.; Labate A.; Gambardella A.; Tinuper P.; Licchetta L.; Baldassari S.; Bisulli F.; Pippucci T.; Scheffer I.E.; Reid C.A.; Petrou S.; Bahlo M.; Berkovic S.F., PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy, «ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY», 2015, 2, pp. 821 - 830 [articolo]Open Access

Graziano, C; Wischmeijer, A; Pippucci, T; Fusco, C; Diquigiovanni, C; Nõukas, M; Sauk, M; Kurg, A; Rivieri, F; Blau, N; Hoffmann, Gf; Chaubey, A; Schwartz, Ce; Romeo, G; Bonora, E; Garavelli, L; Seri, M., Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant., «GENE», 2015, 559, pp. 144 - 148 [articolo]

Bisulli F;Naldi I;Baldassari S;Magini P;Licchetta L;Castegnaro G;Fabbri M;Stipa C;Ferrari S;Seri M;Gonçalves Silva GE;Tinuper P;Pippucci T, Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31., «EPILEPSIA», 2014, 55, pp. 841 - 848 [articolo]

A. Magi;L. Tattini;F. Palombo;M. Benelli;A. Gialluisi;B. Giusti;R. Abbate;M. Seri;G. F. Gensini;G. Romeo;T. Pippucci, H3M2: detection of runs of homozygosity from whole-exome sequencing data, «BIOINFORMATICS», 2014, 30, pp. 2852 - 2859 [articolo]

Magini P;Bisulli F;Baldassari S;Stipa C;Naldi I;Licchetta L;Menghi V;Tinuper P;Seri M;Pippucci T, LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF)., «EPILEPSY RESEARCH», 2014, 108, pp. 972 - 977 [articolo]

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., A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree., «EUROPEAN JOURNAL OF HUMAN GENETICS», 2013, 21, pp. 613 - 619 [articolo]

T. Pippucci; A. Parmeggiani; F. Palombo; A. Maresca; A. Angius; L. Crisponi; F. Cucca; R. Liguori; M. L. Valentino; M. Seri; V. Carelli, A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy., «PLOS ONE», 2013, 8, Article number: e82154, pp. 1 - 7 [articolo]Open Access

Laura Licchetta; Tommaso Pippucci; Francesca Bisulli; Gaetano Cantalupo; Pamela Magini; Lara Alvisi; Sara Baldassari; Paolo Martinelli; Ilaria Naldi; Nicola Vanni; Rocco Liguori; Marco Seri; Paolo Tinuper, A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype, «EPILEPSIA», 2013, 54, pp. 1298 - 1306 [articolo]

Magi A;Tattini L;Cifola I;D'Aurizio R;Benelli M;Mangano E;Battaglia C;Bonora E;Kurg A;Seri M;Magini P;Giusti B;Romeo G;Pippucci T;De Bellis G;Abbate R;Gensini GF, EXCAVATOR: detecting copy number variants from whole-exome sequencing data., «GENOME BIOLOGY», 2013, 14, pp. 1 - 18 [articolo]

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 [articolo]

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 [articolo]

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 [articolo]

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 [articolo]

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 [articolo]

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 [articolo]

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