GRAZIANO, CLAUDIO
Dettaglio
GRAZIANO, CLAUDIO
EX-DIP. MEDICINA INTERNA, CARDIOANGIOLOGIA, EPATOLOGIA-(1900/2008)
Pubblicazioni
Risultati 1 - 20 di 25 (tempo di esecuzione: 0.002 secondi).
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File | |
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1 | 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 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | 1.01 Articolo in rivista | - | |
2 | 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 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | 1.01 Articolo in rivista | - | |
3 | 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 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | 1.01 Articolo in rivista | - | |
4 | 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 | BLOOD | 1.01 Articolo in rivista | - | |
5 | 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 | JOURNAL OF MEDICAL GENETICS | 1.01 Articolo in rivista | - | |
6 | 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 | GENE | 1.01 Articolo in rivista | - | |
7 | 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 | MOLECULAR CYTOGENETICS | 1.01 Articolo in rivista | ||
8 | 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 | OPHTHALMIC GENETICS | 1.01 Articolo in rivista | - | |
9 | 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 | DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | 1.01 Articolo in rivista | - | |
10 | 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 | JOURNAL OF INHERITED METABOLIC DISEASE | 4.02 Riassunto (Abstract) | - | |
11 | 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 | HUMAN MUTATION | 1.01 Articolo in rivista | - | |
12 | Genetics of human enteric neuropathies. | Panza E; Knowles CH; Graziano C; Thapar N; Burns AJ; Seri M; Stanghellini V; De Giorgio R. | 2012 | PROGRESS IN NEUROBIOLOGY | 1.01 Articolo in rivista | - | |
13 | 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 | FRONTIERS IN GENETICS | 1.01 Articolo in rivista | - | |
14 | 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 | MEDICINA | 1.01 Articolo in rivista | ||
15 | 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 | EMBO MOLECULAR MEDICINE | 1.01 Articolo in rivista | ||
16 | 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; Cogl...iandro, 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 | GASTROENTEROLOGY | 1.01 Articolo in rivista | - | |
17 | 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 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | 1.01 Articolo in rivista | - | |
18 | 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; Silv...estri, 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 | FRONTIERS IN NEUROLOGY | 1.01 Articolo in rivista | - | |
19 | Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing | Bonora, Elena; Bianco, Francesca; Stanzani, Agnese; Diquigiovanni, Chiara; Rinaldi, Rita; D'Angel...o, 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 | GASTROENTEROLOGY | 1.06 Abstract in rivista | - | |
20 | Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes | Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Shen, Gu; Coban Akdemir, Zeynep; Eldomery, Mohamma...d K.; Posey, Jennifer E.; Jhangiani, Shalini N.; Rosenfeld, Jill A.; Cho, Megan T.; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M.; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A.; Smith, Joshua D.; Mclaughlin, Heather M.; Eng, Christine M.; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V.; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M.; Lotze, Timothy E.; Boerwinkle, Eric; Gibbs, Richard A.; Hickey, Scott E.; Graham, Brett H.; Yang, Yaping; Buhas, Daniela; Martin, Donna M.; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J.; Lupski, James R. | 2016 | AMERICAN JOURNAL OF HUMAN GENETICS | 1.01 Articolo in rivista | - |