BONORA, ELENA

BONORA, ELENA  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

Docenti di ruolo di IIa fascia  

Mostra records
Risultati 1 - 20 di 114 (tempo di esecuzione: 0.102 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. Bacchelli E;Ceroni F;Pinto D;Lomartire S;Giannandrea M;D'Adamo P;Bonora E;Parchi P;Tancredi R;Bat...taglia A;Maestrini E 2014-01-01 JOURNAL OF NEURODEVELOPMENTAL DISORDERS - 1.01 Articolo in rivista 1866-1955-6-17.pdf
A germline mutation in the POT1 gene is a candidate for familial non-medullary thyroid cancer Srivastava A.; Miao B.; Skopelitou D.; Kumar V.; Kumar A.; Paramasivam N.; Bonora E.; Hemminki K....; Forsti A.; Bandapalli O.R. 2020-01-01 CANCERS - 1.01 Articolo in rivista cancers-12-01441-v2POT1.pdfcancers-12-01441-s001.zip
A Greek Family with a Follicular Variant of Familial Papillary Thyroid Carcinoma: TCO, MNG1, fPTC/PRN, and NMTC1 Excluded as Susceptibility Loci Tsilchorozidou T; Vafiadou E; Yovos JG; Romeo G; McKay J; Lesueur F; Bonora E 2005-01-01 THYROID - 1.01 Articolo in rivista -
A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors Cecilia Evangelisti;Dario de Biase;Ivana Kurelac;Claudio Ceccarelli;Holger Prokisch;Thomas Meitin...ger;Paola Caria;Roberta Vanni;Giovanni Romeo;Giovanni Tallini;Giuseppe Gasparre;Elena Bonora 2015-01-01 BMC CANCER - 1.01 Articolo in rivista 12885_2015_Article_1122.pdf
A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder. Graziano C, Despang P, Palombo F, Severi G, Posar A, Cassio A, Pippucci T, Isidori F, Matthes J, ...Bonora E. 2021-01-01 JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS - 1.01 Articolo in rivista s10803-020-04551-y.pdf231308c7-61b5-43e5-befd-365842d292a9.pdf
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism Diquigiovanni C.; Bergamini C.; Diaz R.; Liparulo I.; Bianco F.; Masin L.; Baldassarro V.A.; Rizz...ardi N.; Tranchina A.; Buscherini F.; Wischmeijer A.; Pippucci T.; Scarano E.; Cordelli D.M.; Fato R.; Seri M.; Paracchini S.; Bonora E. 2019-01-01 FASEB JOURNAL - 1.01 Articolo in rivista -
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells. G.Gasparre; L. Iommarini; A.M. Porcelli; M. Lang; G.G. Ferri; I.Kurelac; E. Mariani; L.F. Pennisi...; E. Pasquini; G. Pasquinelli; A. Ghelli; E. Bonora; C. Ceccarelli; M. Rugolo; N. Salfi; G. Romeo; V. Carelli. 2009-01-01 HUMAN MUTATION - 1.01 Articolo in rivista -
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene Bacchelli, Elena; Loi, Eleonora; Cameli, Cinzia; Moi, Loredana; Benedetti, Ana Florencia Vega; Bl...ois, Sylvain; Fadda, Antonio; Bonora, Elena; Mattu, Sandra; Fadda, Roberta; Chessa, Rita; Maestrini, Elena; Doneddu, Giuseppe; Zavattari, Patrizia 2019-01-01 JOURNAL OF CLINICAL MEDICINE - 1.01 Articolo in rivista Bacchelli_CAPG_ jcm19.pdf
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. Lamb J.A.; Barnby G.; Bonora E.; Sykes N.; Bacchelli E.; Blasi F.; Maestrini E.; Broxholme J.; Tz...enova J.; Weeks D.; Bailey A.J.; Monaco A.P.; International Molecular Genetic Study of Autism Consortium (IMGSAC). 2005-01-01 JOURNAL OF MEDICAL GENETICS - 1.01 Articolo in rivista -
Analysis of reelin as a candidate gene for autism Bonora E.; Beyer K.S.; Lamb J.A.; Parr J.R.; Klauck S.M.; Benner A.; Paolucci M.; Abbott A.; Rago...ussis I.; Poustka A.; Bailey A.J.; Monaco A.P. 2003-01-01 MOLECULAR PSYCHIATRY - 1.01 Articolo in rivista -
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways C. Evangelisti;F. Bianco;L. M. Pradella;A. Puliti;A. Goldoni;I. Sbrana;M. Rossi;M. Vargiolu;M. Se...ri;G. Romeo;V. Stanghellini;R. de Giorgio;E. Bonora 2012-01-01 NEUROGASTROENTEROLOGY AND MOTILITY - 1.01 Articolo in rivista -
Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer. Raitila A; Georgitsi M; Bonora E; Vargiolu M; Tuppurainen K; Mäkinen MJ; Vierimaa O; Salmela PI; ...Launonen V; Vahteristo P; Aaltonen LA; Romeo G; Karhu A. 2009-01-01 JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION - 1.01 Articolo in rivista -
Association of the interleukin-4/interleukin-4 receptor genetic variants with hand osteoathrtitis. Vargiolu M.; Silvestri T.; Bonora E.; Dolzani P.; Pulsatelli L.; Punzi L.; Fioravanti A.; Facchin...i A.; Romeo G.; Meliconi R. 2008-01-01 OSTEOARTHRITIS AND CARTILAGE - 4.02 Riassunto (Abstract) -
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy Bonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Be...rgamini, Christian; Ullah, Farid; Isidori, Federica; Liparulo, Irene; Diquigiovanni, Chiara; Masin, Luca; Rizzardi, Nicola; Cratere, Mariapia Giuditta; Boschetti, Elisa; Papa, Valentina; Maresca, Alessandra; Cenacchi, Giovanna; Casadio, Rita; Martelli, Pierluigi; Matera, Ivana; Ceccherini, Isabella; Fato, Romana; Raiola, Giuseppe; Arrigo, Serena; Signa, Sara; Sementa, Angela Rita; Severino, Mariasavina; Striano, Pasquale; Fiorillo, Chiara; Goto, Tsuyoshi; Uchino, Shumpei; Oyazato, Yoshinobu; Nakamura, Hisayoshi; Mishra, Sushil K; Yeh, Yu-Sheng; Kato, Takema; Nozu, Kandai; Tanboon, Jantima; Morioka, Ichiro; Nishino, Ichizo; Toda, Tatsushi; Goto, Yu-Ichi; Ohtake, Akira; Kosaki, Kenjiro; Yamaguchi, Yoshiki; Nonaka, Ikuya; Iijima, Kazumoto; Mimaki, Masakazu; Kurahashi, Hiroki; Raams, Anja; MacInnes, Alyson; Alders, Mariel; Engelen, Marc; Linthorst, Gabor; de Koning, Tom; den Dunnen, Wilfred; Dijkstra, Gerard; van Spaendonck, Karin; van Gent, Dik C; Aronica, Eleonora M; Picco, Paolo; Carelli, Valerio; Seri, Marco; Katsanis, Nicholas; Duijkers, Floor A M; Taniguchi-Ikeda, Mariko; De Giorgio, Roberto 2021-01-01 BRAIN - 1.01 Articolo in rivista -
BRAF exon 15 mutations in papillary carcinoma and adjacent thyroid parenchyma: A search for the early molecular events associated with tumor development Acquaviva G.; de Biase D.; Diquigiovanni C.; Argento C.M.; De Leo A.; Bonora E.; Rhoden K.J.; Pes...sion A.; Tallini G. 2020-01-01 CANCERS - 1.01 Articolo in rivista ATYP&BRAFdef.pdf
C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes. Yin L.; Puliti A.; Bonora E.; Evangelisti C.; Conti V.; Tong WM.; Medard JJ.; Lavoué MF.; Forey N....; Wang LC.; Manié S.; Morel G.; Raccurt M.; Wang ZQ.; Romeo G. 2007-01-01 INTERNATIONAL JOURNAL OF CANCER - 1.01 Articolo in rivista -
Calcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and Pathologies Bianca De Nicolo, Erica Cataldi-Stagetti, Chiara Diquigiovanni, Elena Bonora 2023-01-01 ANTIOXIDANTS - 1.01 Articolo in rivista -
Calcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and PathologiesCalcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and Pathologies Bianca De Nicolo, Erica Cataldi-Stagetti, Chiara Diquigiovanni, Elena Bonora 2023-01-01 ANTIOXIDANTS - 1.01 Articolo in rivista antioxidants-12-00353-v2.pdf
Clinical and Pathological Features of Severe Gut Dysmotility Bianco, Francesca; Bonora, Elena; Lattanzio, Giulia; Clavenzani, Paolo; Guarino, Matteo; Mazzoni,... Maurizio; Baldassarro, Vito Antonio; Lorenzini, Luca; Caio, Giacomo; Stanghellini, Vincenzo; Sternini, Catia; Farrugia, Gianrico; Giardino, Luciana; Calza, Laura; De Giorgio, Roberto 2022-01-01 - Springer 2.01 Capitolo / saggio in libro -
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma Gasparre G.; Hervouet E.; de Laplanche E.; Demont J.; Pennisi L.F.; Colombel M.; Mège-Lechevallie...r F.; Scoazec J.Y.; Bonora E.; Smeets R.; Smeitink J.; Lazar V.; Lespinasse J.; Giraud S.; Godinot C.; Romeo G.; Simonnet H. 2008-01-01 HUMAN MOLECULAR GENETICS - 1.01 Articolo in rivista -