Sfoglia per Autore
Linkage analysis in informative families for the identification of disease genes in the post-genoma era | L{'}analisi di linkage in famiglie informative per l{'}identificazione di geni malattia nell{'}era post-genoma
2001 Cusano, R.; Lo Nigro, C.; Panza, E.; Marini, M.; Bolino, A.; Lerone, M.; Silengo, M.; Ravazzolo, R.; Seri, M.
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness
2003 Seri M.; Pecci A.; Di Bari F.; Cusano R.; Savino M.; Panza E.; Nigro A.; Noris P.; Gangarossa S.; Rocca B.; Gresele P.; Bizzaro N.; Malatesta P.; Koivisto P.A.; Longo I.; Musso R.; Pecoraro C.; Iolascon A.; Magrini U.; Rodriguez Soriano J.; Renieri A.; Ghiggeri G.M.; Ravazzolo R.; Balduini C.L.; Savoia A.
Application of a fluorescent PCR method for molecular diagnosis of posttransplant lymphoproliferative disorders on routine tissue sections.
2005 Gruppioni, E; Corti, B; Altimari, A; Gabusi, E; Panza, E; Grazi, GL; Pinna, AD; De Ruvo, N; Fiorentino, M; Grigioni, WF; D'Errico-Grigioni, A.
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia.
2006 Pizza F.; Donadio V.; Avoni P.; Panza E.; Sangiorgi S.; Seri M.; Carelli V.; Montagna P.; Liguori R.
Molecular genetics of human enteric neuropathies.
2007 Panza E; Seri M; Barbara G; Castegnaro G; Romeo G; Stanghellini V; Corinaldesi R; De Giorgio R.
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p.
2007 L. Longo; E. Panza; F. Schena; M. Seri; M. Devoto; G. Romeo; C. Bini; G. Pappalardo; G.P. Tonini; P. Perri.
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.
2007 E. Panza; G. Gimelli; M. Passalacqua; A. Cohen; S. Gimelli; S. Giglio; C. Ghezzi; B. Sparatore; B. Heye; O. Zuffardi; E. Rugarli; T. Meitinger; G. Romeo; R. Ravazzolo; M. Seri.
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.
Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines.
2008 Panza E; Marini M; Pecci A; Giacopelli F; Bozzi V; Seri M; Balduini C; Ravazzolo R.
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
2008 Pecci A; Panza E; Pujol-Moix N; Klersy C; Di Bari F; Bozzi V; Gresele P; Lethagen S; Fabris F; Dufour C; Granata A; Doubek M; Pecoraro C; Koivisto PA; Heller PG; Iolascon A; Alvisi P; Schwabe D; De Candia E; Rocca B; Russo U; Ramenghi U; Noris P; Seri M; Balduini CL; Savoia A.
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.
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.
2009 Graziano C; Carone S; Panza E; Marino F; Magini P; Romeo G; Pession 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.
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.
2010 Brussino A.; Vaula G.; Cagnoli C.; Panza E.; Seri M.; Di Gregorio E.; Scappaticci S.; Camanini S.; Daniele D.; Bradac G.B.; Pinessi L.; Cavalieri S.; Grosso E.; Migone N.; Brusco A.
Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
2010 Savoia A.; De Rocco D.; Panza E.; Bozzi V.; Scandellari R.; Loffredo G.; Mumford A.; Heller P.G.; Noris P.; De Groot M.R.; Giani M.; Freddi P.; Scognamiglio F.; Riondino S.; Pujol-Moix N.; Fabris F.; Seri M.; Balduini C.L.; Pecci A.
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.
2010 Pecci A.; Panza E.; De Rocco D.; Pujol-Moix N.; Girotto G.; Podda L.; Paparo C.; Bozzi V.; Pastore A.; Balduini CL.; Seri M.; Savoia A.
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells
2011 Pecci A.; Bozzi V.; Panza E.; Barozzi S.; Gruppi C.; Seri M.; Balduini C.L.
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.
2011 Pecci A; Bozzi V; Panza E; Barozzi S; Gruppi C; Seri M; Balduini CL.
Genetics of human enteric neuropathies.
2012 Panza E; Knowles CH; Graziano C; Thapar N; Burns AJ; Seri M; Stanghellini V; De Giorgio R.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Linkage analysis in informative families for the identification of disease genes in the post-genoma era | L{'}analisi di linkage in famiglie informative per l{'}identificazione di geni malattia nell{'}era post-genoma | Cusano, R.; Lo Nigro, C.; Panza, E.; Marini, M.; Bolino, A.; Lerone, M.; Silengo, M.; Ravazzolo, ...R.; Seri, M. | 2001-01-01 | GASLINI GENOVA | - | 1.01 Articolo in rivista | - |
| MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness | Seri M.; Pecci A.; Di Bari F.; Cusano R.; Savino M.; Panza E.; Nigro A.; Noris P.; Gangarossa S.;... Rocca B.; Gresele P.; Bizzaro N.; Malatesta P.; Koivisto P.A.; Longo I.; Musso R.; Pecoraro C.; Iolascon A.; Magrini U.; Rodriguez Soriano J.; Renieri A.; Ghiggeri G.M.; Ravazzolo R.; Balduini C.L.; Savoia A. | 2003-01-01 | MEDICINE | - | 1.01 Articolo in rivista | - |
| Application of a fluorescent PCR method for molecular diagnosis of posttransplant lymphoproliferative disorders on routine tissue sections. | Gruppioni, E; Corti, B; Altimari, A; Gabusi, E; Panza, E; Grazi, GL; Pinna, AD; De Ruvo, N; Fiore...ntino, M; Grigioni, WF; D'Errico-Grigioni, A. | 2005-01-01 | DIAGNOSTIC MOLECULAR PATHOLOGY | - | 1.01 Articolo in rivista | - |
| Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. | Pizza F.; Donadio V.; Avoni P.; Panza E.; Sangiorgi S.; Seri M.; Carelli V.; Montagna P.; Liguori R. | 2006-01-01 | NEUROLOGICAL SCIENCES | - | 4.02 Riassunto (Abstract) | - |
| Molecular genetics of human enteric neuropathies. | Panza E; Seri M; Barbara G; Castegnaro G; Romeo G; Stanghellini V; Corinaldesi R; De Giorgio R. | 2007-01-01 | NEUROGASTROENTEROLOGY AND MOTILITY | - | 4.02 Riassunto (Abstract) | - |
| Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. | L. Longo; E. Panza; F. Schena; M. Seri; M. Devoto; G. Romeo; C. Bini; G. Pappalardo; G.P. Tonini;... P. Perri. | 2007-01-01 | HUMAN HEREDITY | - | 1.01 Articolo in rivista | - |
| The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. | E. Panza; G. Gimelli; M. Passalacqua; A. Cohen; S. Gimelli; S. Giglio; C. Ghezzi; B. Sparatore; B.... Heye; O. Zuffardi; E. Rugarli; T. Meitinger; G. Romeo; R. Ravazzolo; M. Seri. | 2007-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | - |
| 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 | - |
| Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines. | Panza E; Marini M; Pecci A; Giacopelli F; Bozzi V; Seri M; Balduini C; Ravazzolo R. | 2008-01-01 | PATHOGENETICS | - | 1.01 Articolo in rivista | - |
| Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. | Pecci A; Panza E; Pujol-Moix N; Klersy C; Di Bari F; Bozzi V; Gresele P; Lethagen S; Fabris F; Du...four C; Granata A; Doubek M; Pecoraro C; Koivisto PA; Heller PG; Iolascon A; Alvisi P; Schwabe D; De Candia E; Rocca B; Russo U; Ramenghi U; Noris P; Seri M; Balduini CL; Savoia A. | 2008-01-01 | HUMAN MUTATION | - | 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 | - |
| Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. | Graziano C; Carone S; Panza E; Marino F; Magini P; Romeo G; Pession A; Seri M. | 2009-01-01 | BLOOD | - | 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 | - |
| A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. | Brussino A.; Vaula G.; Cagnoli C.; Panza E.; Seri M.; Di Gregorio E.; Scappaticci S.; Camanini S....; Daniele D.; Bradac G.B.; Pinessi L.; Cavalieri S.; Grosso E.; Migone N.; Brusco A. | 2010-01-01 | EUROPEAN JOURNAL OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
| Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. | Savoia A.; De Rocco D.; Panza E.; Bozzi V.; Scandellari R.; Loffredo G.; Mumford A.; Heller P.G.;... Noris P.; De Groot M.R.; Giani M.; Freddi P.; Scognamiglio F.; Riondino S.; Pujol-Moix N.; Fabris F.; Seri M.; Balduini C.L.; Pecci A. | 2010-01-01 | THROMBOSIS AND HAEMOSTASIS | - | 1.01 Articolo in rivista | - |
| MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. | Pecci A.; Panza E.; De Rocco D.; Pujol-Moix N.; Girotto G.; Podda L.; Paparo C.; Bozzi V.; Pastor...e A.; Balduini CL.; Seri M.; Savoia A. | 2010-01-01 | EUROPEAN JOURNAL OF HAEMATOLOGY | - | 1.01 Articolo in rivista | - |
| Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells | Pecci A.; Bozzi V.; Panza E.; Barozzi S.; Gruppi C.; Seri M.; Balduini C.L. | 2011-01-01 | THROMBOSIS AND HAEMOSTASIS | - | 1.01 Articolo in rivista | - |
| Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. | Pecci A; Bozzi V; Panza E; Barozzi S; Gruppi C; Seri M; Balduini CL. | 2011-01-01 | THROMBOSIS AND HAEMOSTASIS | - | 1.01 Articolo in rivista | - |
| Genetics of human enteric neuropathies. | Panza E; Knowles CH; Graziano C; Thapar N; Burns AJ; Seri M; Stanghellini V; De Giorgio R. | 2012-01-01 | PROGRESS IN NEUROBIOLOGY | - | 1.01 Articolo in rivista | - |
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