Sfoglia per Autore
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24.
2007 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.
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes.
2008 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.
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.
2009 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.
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.
2010 Ferrero G.B.; Baldassarre G.; Panza E.; Valenzise M.; Pippucci T.; Mussa A.; Pepe E.; Seri M.; Silengo M.C.
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
2011 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.
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
2011 Garone C; Pippucci T; Cordelli DM; Zuntini R; Castegnaro G; Marconi C; Graziano C; Marchiani V; Verrotti A; Seri M; Franzoni E.
EX-HOM (EXome-HOMozygosity): a proof of principle
2011 Pippucci T.; Benelli M.; Magi A.; Martelli P.L.; Magini P.; Torricelli F.; Casadio R.; Seri M.; Romeo G.
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
2011 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
Linkage exclusion in Italian families with hereditary essential tremor.
2011 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.
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved?
2012 Colina M; Pippucci T; Moro MA; Marconi C; Magini P; Ciancio G; Romeo G; Trotta F; Seri M.
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
2013 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.
EXCAVATOR: detecting copy number variants from whole-exome sequencing data.
2013 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
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
2013 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 pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype
2013 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
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF).
2014 Magini P;Bisulli F;Baldassari S;Stipa C;Naldi I;Licchetta L;Menghi V;Tinuper P;Seri M;Pippucci T
H3M2: detection of runs of homozygosity from whole-exome sequencing data
2014 A. Magi;L. Tattini;F. Palombo;M. Benelli;A. Gialluisi;B. Giusti;R. Abbate;M. Seri;G. F. Gensini;G. Romeo;T. Pippucci
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31.
2014 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
Epilepsy with auditory features: A heterogeneous clinico-molecular disease
2015 Pippucci, T.; Licchetta, L.; Baldassari, S.; Palombo, F.; Menghi, V.; D'Aurizio, R.; Leta, C.; Stipa, C.; Boero, G.; D'Orsi, G.; Magi, A.; Scheffer, I.; Seri, M.; Tinuper, P.; Bisulli, F.
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction.
2015 Bonora, E; Bianco, F; Cordeddu, L; Bamshad, M; Francescatto, L; Dowless, D; Stanghellini, V; Cogliandro, Rf; Lindberg, G; Mungan, Z; Cefle, K; Ozcelik, T; Palanduz, S; Ozturk, S; Gedikbasi, A; Gori, A; Pippucci, T; Graziano, C; Volta, U; Caio, G; Barbara, G; D'Amato, M; Seri, M; Katsanis, N; Romeo, G; De Giorgio, R.
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
2015 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.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| 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; Cog...liandro RF; Mungan Z; Palanduz S; Corinaldesi R; Romeo G; Seri M; Stanghellini V. | 2007-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. | Panza E; Pippucci T; Cusano R; Lo Nigro C; Pradella L; Contardi S; Rouleau GA; Stevanin G; Ravazz...olo R; Liguori R; Montagna P; Romeo G; Seri M. | 2008-01-01 | EUROPEAN JOURNAL OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
| Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. | 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. | 2009-01-01 | EUROPEAN JOURNAL OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
| 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. | Ferrero G.B.; Baldassarre G.; Panza E.; Valenzise M.; Pippucci T.; Mussa A.; Pepe E.; Seri M.; Si...lengo M.C. | 2010-01-01 | EUROPEAN JOURNAL OF PEDIATRICS | - | 1.01 Articolo in rivista | - |
| 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. | 2011-01-01 | BLOOD | - | 1.01 Articolo in rivista | - |
| FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. | Garone C; Pippucci T; Cordelli DM; Zuntini R; Castegnaro G; Marconi C; Graziano C; Marchiani V; V...errotti A; Seri M; Franzoni E. | 2011-01-01 | DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | - | 1.01 Articolo in rivista | - |
| EX-HOM (EXome-HOMozygosity): a proof of principle | Pippucci T.; Benelli M.; Magi A.; Martelli P.L.; Magini P.; Torricelli F.; Casadio R.; Seri M.; R...omeo G. | 2011-01-01 | HUMAN HEREDITY | - | 1.01 Articolo in rivista | - |
| 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 | 2011-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| 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. | 2011-01-01 | EUROPEAN JOURNAL OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
| Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved? | Colina M; Pippucci T; Moro MA; Marconi C; Magini P; Ciancio G; Romeo G; Trotta F; Seri M. | 2012-01-01 | CLINICAL AND EXPERIMENTAL RHEUMATOLOGY | - | 1.01 Articolo in rivista | - |
| 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. | 2013-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| EXCAVATOR: detecting copy number variants from whole-exome sequencing data. | Magi A;Tattini L;Cifola I;D'Aurizio R;Benelli M;Mangano E;Battaglia C;Bonora E;Kurg A;Seri M;Magi...ni P;Giusti B;Romeo G;Pippucci T;De Bellis G;Abbate R;Gensini GF | 2013-01-01 | GENOME BIOLOGY | - | 1.01 Articolo in rivista | - |
| A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. |
T. Pippucci; A. Parmeggiani; F. Palombo; A. Maresca; A. Angius; L. Crisponi; F. Cucca; R. Liguor...i; M. L. Valentino; M. Seri; V. Carelli |
2013-01-01 | PLOS ONE | - | 1.01 Articolo in rivista | journal.pone.0082154.PDF |
| A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype | Laura Licchetta; Tommaso Pippucci; Francesca Bisulli; Gaetano Cantalupo; Pamela Magini; Lara Alvi...si; Sara Baldassari; Paolo Martinelli; Ilaria Naldi; Nicola Vanni; Rocco Liguori; Marco Seri; Paolo Tinuper | 2013-01-01 | EPILEPSIA | - | 1.01 Articolo in rivista | - |
| LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). | Magini P;Bisulli F;Baldassari S;Stipa C;Naldi I;Licchetta L;Menghi V;Tinuper P;Seri M;Pippucci T | 2014-01-01 | EPILEPSY RESEARCH | - | 1.01 Articolo in rivista | - |
| H3M2: detection of runs of homozygosity from whole-exome sequencing data | A. Magi;L. Tattini;F. Palombo;M. Benelli;A. Gialluisi;B. Giusti;R. Abbate;M. Seri;G. F. Gensini;G.... Romeo;T. Pippucci | 2014-01-01 | BIOINFORMATICS | - | 1.01 Articolo in rivista | - |
| Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. | 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 | 2014-01-01 | EPILEPSIA | - | 1.01 Articolo in rivista | - |
| Epilepsy with auditory features: A heterogeneous clinico-molecular disease | Pippucci, T.; Licchetta, L.; Baldassari, S.; Palombo, F.; Menghi, V.; D'Aurizio, R.; Leta, C.; St...ipa, C.; Boero, G.; D'Orsi, G.; Magi, A.; Scheffer, I.; Seri, M.; Tinuper, P.; Bisulli, F. | 2015-01-01 | NEUROLOGY. GENETICS | - | 1.01 Articolo in rivista | PIPPUCCI_2015_NEUROL GENET_EPILEPSY WITH AUDITORY FEATURES.pdf; Additional Files.zip |
| Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. | Bonora, E; Bianco, F; Cordeddu, L; Bamshad, M; Francescatto, L; Dowless, D; Stanghellini, V; Cogl...iandro, Rf; Lindberg, G; Mungan, Z; Cefle, K; Ozcelik, T; Palanduz, S; Ozturk, S; Gedikbasi, A; Gori, A; Pippucci, T; Graziano, C; Volta, U; Caio, G; Barbara, G; D'Amato, M; Seri, M; Katsanis, N; Romeo, G; De Giorgio, R. | 2015-01-01 | GASTROENTEROLOGY | - | 1.01 Articolo in rivista | nihms653594.pdf; NIHMS653594-supplement-01.pdf |
| Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. | 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. | 2015-01-01 | GENE | - | 1.01 Articolo in rivista | - |
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