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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 32 (tempo di esecuzione: 0.032 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 -
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 -
A regional audit system for stillbirth: A way to better understand the phenomenon Po G.; Monari F.; Zanni F.; Grandi G.; Lupi C.; Facchinetti F.; Mancini L.; Lugli L.; Lanzoni C.;... Sgarbi L.; Chiossi C.; Ricchieri F.; Roberta C.; Contiero R.; Garani G.; Pedriali M.; Rossi S.; Fini S.; Di Bartolo M.; Radi D.; Vancini A.; Donati A.; Guadalupi E.; Righetti F.; Salerno A.; Cocchi G.; Morandi R.; Gabrielli L.; Graziano C.; Seri M.; Caprara G.; Mario S.N.C.; Fantuz F.; Ferlini F.; Righi E.; Silvestrini D.; Foschi F.; Fieni S.; Frusca T.; Ferretti A.; Galli L.; Magnani C.; Silini E.; Balduzzi L.; Bellini M.; Rodolfi A.M.; Sgarabotto M.P.; Fragni G.; Comitini G.; Bonasoni M.P.; Fioroni L.; Rozzi C.; Tuzio A.; Vito I.; Mammoliti P.; De Ambrosi E.; Ricci M.; Bandini A.; Belosi C.; Muratori C.; Zago S.; Turci A.; Vitarelli M. 2019-01-01 BMC PREGNANCY AND CHILDBIRTH - 1.01 Articolo in rivista baloon.pdf
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 -
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield Giulia Olivucci, Giulia Severi, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Claudio Graz...iano, Marco seri, Pamela Magini 2023-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.06 Abstract 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
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 -
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; Sar...tori 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; Orza...n, 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 -
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations Hirsch, Naama; Dahan, Idit; D'haene, Eva; Avni, Matan; Vergult, Sarah; Vidal-García, Marta; Magin...i, Pamela; Graziano, Claudio; Severi, Giulia; Bonora, Elena; Nardone, Anna Maria; Brancati, Francesco; Fernández-Jaén, Alberto; Rory, Olson J; Hallgrímsson, Benedikt; Birnbaum, Ramon Y 2022-01-01 GENOME RESEARCH - 1.01 Articolo in rivista Genome Res.-2022-Hirsch-1242-53.pdf; suppl.zip
High prevalence of arterial dissection in patients with Loeys-Dietz syndrome and cerebral aneurysm Spinardi, Luca; Mariucci, Elisabetta; Vornetti, Gianfranco; Stagni, Silvia; Graziano, Claudio; Fa...ccioli, Luca; Pastore Trossello, Marco; Donti, Andrea 2020-01-01 VASCULAR MEDICINE - 1.01 Articolo in rivista -
Increased intracranial arterial tortuosity is associated with worse cardiovascular outcome in patients with Loeys-Dietz syndrome Vornetti, Gianfranco; Spinardi, Luca; Mariucci, Elisabetta; Graziano, Claudio; Baroni, Maria Chia...ra; Faccioli, Luca; Donti, Andrea 2022-01-01 JOURNAL OF CLINICAL NEUROSCIENCE - 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.; Zoll...ino M.; Graziano C.; Ambrosetti U.; Seri M.; Faletra F.; Girotto G. 2020-01-01 GENES - 1.01 Articolo in rivista genes-11-01237.pdf