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 family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations., «EUROPEAN JOURNAL OF NEUROLOGY», 2010, 17, pp. 541 - 549 [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]
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., Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder., «THROMBOSIS AND HAEMOSTASIS», 2010, 103, pp. 826 - 832 [Scientific article]
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., MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype., «EUROPEAN JOURNAL OF HAEMATOLOGY», 2010, 84, pp. 291 - 297 [Scientific article]
Graziano C; Carone S; Panza E; Marino F; Magini P; Romeo G; Pession A; Seri M., Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation., «BLOOD», 2009, 114, pp. 1655 - 1657 [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]
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., Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease., «HUMAN MUTATION», 2008, 29(3), pp. 409 - 417 [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]
Panza E; Marini M; Pecci A; Giacopelli F; Bozzi V; Seri M; Balduini C; Ravazzolo R., Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines., «PATHOGENETICS», 2008, 1(1), pp. 1 - 5 [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]
L. Longo; E. Panza; F. Schena; M. Seri; M. Devoto; G. Romeo; C. Bini; G. Pappalardo; G.P. Tonini; P. Perri., Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p., «HUMAN HEREDITY», 2007, 63(3-4), pp. 205 - 211 [Scientific article]
Panza E; Seri M; Barbara G; Castegnaro G; Romeo G; Stanghellini V; Corinaldesi R; De Giorgio R., Molecular genetics of human enteric neuropathies., in: , «NEUROGASTROENTEROLOGY AND MOTILITY», 2007, 19-supplement 3, pp. 17 - 17 (atti di: 21st international symposium on neurogastroenterology and motility, Jeju, Korea, September, 2-5) [Abstract]
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., 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., «INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE», 2007, 19, pp. 429 - 435 [Scientific article]
Pizza F.; Donadio V.; Avoni P.; Panza E.; Sangiorgi S.; Seri M.; Carelli V.; Montagna P.; Liguori R., Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia., in: , «NEUROLOGICAL SCIENCES», 2006, 27, pp. S156 - S156 (atti di: XXXVII Congress of the Italian Neurological Society, Bari, 14-18 ottobre 2006) [Abstract]
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., Application of a fluorescent PCR method for molecular diagnosis of posttransplant lymphoproliferative disorders on routine tissue sections., «DIAGNOSTIC MOLECULAR PATHOLOGY», 2005, 14, pp. 170 - 176 [Scientific article]
