GRAZIANO, CLAUDIO

GRAZIANO, CLAUDIO  

DIP. MEDICINA INTERNA, CARDIOANGIOLOGIA, EPATOLOGIA (attivo dal 01/01/1900 al 12/02/2008)  

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Risultati 1 - 20 di 27 (tempo di esecuzione: 0.035 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? Mucciolo, M; Magini, P; Marozza, A; Mongelli, P; Mencarelli, Ma; Hayek, G; Tavalazzi, F; Mari, F; Seri, M; Renieri, A; Graziano, C. 2014-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 1.01 Articolo in rivista -
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. Graziano C; David M; Magini P; Superti-Furga A; Seri M. 2012-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 1.01 Articolo in rivista -
Aortic arch geometry predicts outcome in patients with Loeys–Dietz syndrome independent of the causative gene Mariucci E.; Spinardi L.; Stagni S.; Graziano C.; Lovato Luigi; Pacini D.; Di Marco L.; Careddu L.; Angeli E.; Ciuca C.; Wischmeijer Anita; Gargiulo G.; Donti Andrea 2020-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 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 -
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts Milev, Miroslav P.; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F. E.; Al-Deri, Noraldin; Cordelli, Duccio Maria; Haack, Tobias B.; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovanna; Van Gassen, Koen L. I.; Zschocke, Johannes; Fauth, Christine; Mayr, Johannes A.; Sacher, Michael; Van Hasselt, Peter M. 2018-01-01 JOURNAL OF MEDICAL GENETICS - 1.01 Articolo in rivista -
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano 2019-01-01 GENE - 1.01 Articolo in rivista -
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration Magini, Pamela; Poscente, Monica; Ferrari, Simona; Vargiolu, Manuela; Bacchelli, Elena; Graziano, Claudio; Wischmeijer, Anita; Turchetti, Daniela; Malaspina, Elisabetta; Marchiani, Valentina; Cordelli, Duccio Maria; Franzoni, Emilio; Romeo, Giovanni; Seri, Marco 2015-01-01 MOLECULAR CYTOGENETICS - 1.01 Articolo in rivista Magini P et al Recombinant X Chromosome.pdf
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature Graziano, Claudio; Gusson, Elena; Severi, Giulia; Isidori, Federica; Wischmeijer, Anita; Brugnara, Milena; Seri, Marco; Rossi, Cesare 2017-01-01 OPHTHALMIC GENETICS - 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; Verrotti A; Seri M; Franzoni E. 2011-01-01 DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY - 1.01 Articolo in rivista -
Fanconi-Bickel syndrome: a mild form associated with GLUT2 mutation F.Baronio; R.Santer; I.Bettocchi; C.Graziano; J.Bergmann; M.Bal; D.Rinaldini; A.Cassio 2012-01-01 JOURNAL OF INHERITED METABOLIC DISEASE - 4.02 Riassunto (Abstract) -
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. Doimo M; Desbats MA; Baldoin MC; Lenzini E; Basso G; Murphy E; Graziano C; Seri M; Burlina A; Sartori G; Trevisson E; Salviati L. 2013-01-01 HUMAN MUTATION - 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 -
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations Morgan, Anna; Lenarduzzi, Stefania; Cappellani, Stefania; Pecile, Vanna; Morgutti, Marcello; Orzan, Eva; Ghiselli, Sara; Ambrosetti, Umberto; Brumat, Marco; Gajendrarao, Poornima; La Bianca, Martina; Faletra, Flavio; Grosso, Enrico; Sirchia, Fabio; Sensi, Alberto; Graziano, Claudio; Seri, Marco; Gasparini, Paolo; Girotto, Giorgia 2018-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista -
Kidney transplant in fabry disease: A revision of the literature Capelli I.; Aiello V.; Gasperoni L.; Comai G.; Corradetti V.; Ravaioli M.; Biagini E.; Graziano C.; La Manna G 2020-01-01 MEDICINA - 1.01 Articolo in rivista Capelli I et al_Medicina 2020.pdf
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population Morgan A.; Lenarduzzi S.; Spedicati B.; Cattaruzzi E.; Murru F.M.; Pelliccione G.; Mazza D.; Zollino M.; Graziano C.; Ambrosetti U.; Seri M.; Faletra F.; Girotto G. 2020-01-01 GENES - 1.01 Articolo in rivista -
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. Bonora E;Graziano C;Minopoli F;Bacchelli E;Magini P;Diquigiovanni C;Lomartire S;Bianco F;Vargiolu M;Parchi P;Marasco E;Mantovani V;Rampoldi L;Trudu M;Parmeggiani A;Battaglia A;Mazzone L;Tortora G;Maestrini E;Seri M;Romeo G;IMGSAC 2014-01-01 EMBO MOLECULAR MEDICINE - 1.01 Articolo in rivista Bonora.pdf
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; 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. 2015-01-01 GASTROENTEROLOGY - 1.01 Articolo in rivista nihms653594.pdfNIHMS653594-supplement-01.pdf
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer Severi, Giulia; Bernardini, Laura; Briuglia, Silvana; Bigoni, Stefania; Buldrini, Barbara; Magini, Pamela; Dentici, Maria L.; Cordelli, Duccio M.; Arrigo, Teresa; Franzoni, Emilio; Fini, Sergio; Italyankina, Eleonora; Loddo, Italia; Novelli, Antonio; Graziano, Claudio* 2016-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 1.01 Articolo in rivista -
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study D'Amore, Angelica; Tessa, Alessandra; Casali, Carlo; Dotti, Maria Teresa; Filla, Alessandro; Silvestri, Gabriella; Antenora, Antonella; Astrea, Guja; Barghigiani, Melissa; Battini, Roberta; Battisti, Carla; Bruno, Irene; Cereda, Cristina; Dato, Clemente; Di Iorio, Giuseppe; Donadio, Vincenzo; Felicori, Monica; Fini, Nicola; Fiorillo, Chiara; Gallone, Salvatore; Gemignani, Federica; Gigli, Gian Luigi; Graziano, Claudio; Guerrini, Renzo; Gurrieri, Fiorella; Kariminejad, Ariana; Lieto, Maria; Marques LourenḈo, Charles; Malandrini, Alessandro; Mandich, Paola; Marcotulli, Christian; Mari, Francesco; Massacesi, Luca; Melone, Maria A B; Mignarri, Andrea; Milone, Roberta; Musumeci, Olimpia; Pegoraro, Elena; Perna, Alessia; Petrucci, Antonio; Pini, Antonella; Pochiero, Francesca; Pons, Maria Roser; Ricca, Ivana; Rossi, Salvatore; Seri, Marco; Stanzial, Franco; Tinelli, Francesca; Toscano, Antonio; Valente, Mariarosaria; Federico, Antonio; Rubegni, Anna; Santorelli, Filippo Maria 2018-01-01 FRONTIERS IN NEUROLOGY - 1.01 Articolo in rivista fneur-09-00981.pdf4322723.zip
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing Bonora, Elena; Bianco, Francesca; Stanzani, Agnese; Diquigiovanni, Chiara; Rinaldi, Rita; D'Angelo, Roberto; Cogliandro, ROSANNA FRANCESCA; Smith, Joshua D.; Nickerson, Deborah; Bamshad, Mike; Assadi, Ghazaleh; Clavenzani, Paolo; Lindberg, Greger; D'Amato, Mauro; Graziano, Claudio; Stanghellini, Vincenzo; Seri, Marco; DE GIORGIO, Roberto 2017-01-01 GASTROENTEROLOGY - 1.06 Abstract in rivista -