BONORA, ELENA

BONORA, ELENA  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

Docenti di ruolo di IIa fascia  

Mostra records
Risultati 1 - 20 di 100 (tempo di esecuzione: 0.041 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 -
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 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 -
Correlations between Molecular Alterations, Histopathological Characteristics, and Poor Prognosis in Esophageal Adenocarcinoma Arianna Orsini, Luca Mastracci, Isotta Bozzarelli, Anna Ferrari, Federica Isidori, Roberto Fiocca..., Marialuisa Lugaresi, Antonietta D’Errico, Deborah Malvi, Erica Cataldi-Stagetti, Paola Spaggiari, Anna Tomezzoli, Luca Albarello, Ari Ristimäki, Luca Bottiglieri, Kausilia K. Krishnadath, Riccardo Rosati, Uberto Fumagalli Romario, Giovanni De Manzoni, Jari Räsänen, Giovanni Martinelli, Sandro Mattioli, Elena Bonora, EACSGE Consortium 2023-01-01 CANCERS - 1.01 Articolo in rivista cancers-15-01408.pdfcancers-15-01408-s001.zip
Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help? Zuntini, Roberta; Ferrari, Simona; Bonora, Elena; Buscherini, Francesco; Bertonazzi, Benedetta; G...rippa, Mina; Godino, Lea; Miccoli, Sara; Turchetti, Daniela* 2018-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista fgene-09-00378.pdf