PANZA, EMANUELE
PANZA, EMANUELE
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Ricercatori a tempo determinato
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.
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 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.
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism
2016 Panza, Emanuele; Escamilla-Honrubia, Juan M; Marco-Marín, Clara; Gougeard, Nadine; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Németh, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente; Seri, Marco
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.
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.
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.
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.
Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone
2020 Avnet S.; Lemma S.; Errani C.; Falzetti L.; Panza E.; Columbaro M.; Nanni C.; Baldini N.
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
2023 Rossi C.; Ramadan S.; Evangelisti C.; Ferrari S.; Accadia M.; Toydemir R.M.; Panza E.
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions
2018 Dugan, Sarah L.; Panza, Emanuele; Openshaw, Amanda; Botto, Lorenzo D.; Camacho, Jose A.; Toydemir, Reha M.
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.
Genetics of human enteric neuropathies.
2012 Panza E; Knowles CH; Graziano C; Thapar N; Burns AJ; Seri M; Stanghellini V; De Giorgio R.
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.
Hereditary spastic paraplegia is a common phenotypic finding in ARG1 deficiency, P5CS deficiency and HHH syndrome: Three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism
2019 Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways
2022 Panza, Emanuele; Meyyazhagan, Arun; Orlacchio, Antonio
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.
Molecular genetics of human enteric neuropathies.
2007 Panza E; Seri M; Barbara G; Castegnaro G; Romeo G; Stanghellini V; Corinaldesi R; De Giorgio R.
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.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| 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 | - |
| 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 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 | - |
| ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism | Panza, Emanuele; Escamilla-Honrubia, Juan M; Marco-Marín, Clara; Gougeard, Nadine; De Michele, Gi...useppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Németh, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente; Seri, Marco | 2016-01-01 | BRAIN | - | 1.04 Replica / breve intervento (e simili) | - |
| 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 | - |
| 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 | - |
| 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) | - |
| 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 | - |
| Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone | Avnet S.; Lemma S.; Errani C.; Falzetti L.; Panza E.; Columbaro M.; Nanni C.; Baldini N. | 2020-01-01 | BONE | - | 1.01 Articolo in rivista | - |
| Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome | Rossi C.; Ramadan S.; Evangelisti C.; Ferrari S.; Accadia M.; Toydemir R.M.; Panza E. | 2023-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | Front Gen 2023.pdf; front.zip |
| Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions | Dugan, Sarah L.; Panza, Emanuele; Openshaw, Amanda; Botto, Lorenzo D.; Camacho, Jose A.; Toydemir..., Reha M. | 2018-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| 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 | - |
| 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 | - |
| 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 | - |
| Hereditary spastic paraplegia is a common phenotypic finding in ARG1 deficiency, P5CS deficiency and HHH syndrome: Three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism | Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri | 2019-01-01 | FRONTIERS IN NEUROLOGY | - | 1.01 Articolo in rivista | FNEUR 2019.pdf |
| Hereditary spastic paraplegia: Genetic heterogeneity and common pathways | Panza, Emanuele; Meyyazhagan, Arun; Orlacchio, Antonio | 2022-01-01 | EXPERIMENTAL NEUROLOGY | - | 1.01 Articolo in rivista | - |
| 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 | - |
| 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) | - |
| 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 | - |