BONORA, ELENA
BONORA, ELENA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Docenti di ruolo di IIa fascia
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder.
2014 Bacchelli E;Ceroni F;Pinto D;Lomartire S;Giannandrea M;D'Adamo P;Bonora E;Parchi P;Tancredi R;Battaglia A;Maestrini E
A germline mutation in the POT1 gene is a candidate for familial non-medullary thyroid cancer
2020 Srivastava A.; Miao B.; Skopelitou D.; Kumar V.; Kumar A.; Paramasivam N.; Bonora E.; Hemminki K.; Forsti A.; Bandapalli O.R.
A Greek Family with a Follicular Variant of Familial Papillary Thyroid Carcinoma: TCO, MNG1, fPTC/PRN, and NMTC1 Excluded as Susceptibility Loci
2005 Tsilchorozidou T; Vafiadou E; Yovos JG; Romeo G; McKay J; Lesueur F; Bonora E
A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors
2015 Cecilia Evangelisti;Dario de Biase;Ivana Kurelac;Claudio Ceccarelli;Holger Prokisch;Thomas Meitinger;Paola Caria;Roberta Vanni;Giovanni Romeo;Giovanni Tallini;Giuseppe Gasparre;Elena Bonora
A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder.
2021 Graziano C, Despang P, Palombo F, Severi G, Posar A, Cassio A, Pippucci T, Isidori F, Matthes J, Bonora E.
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism
2019 Diquigiovanni C.; Bergamini C.; Diaz R.; Liparulo I.; Bianco F.; Masin L.; Baldassarro V.A.; Rizzardi N.; Tranchina A.; Buscherini F.; Wischmeijer A.; Pippucci T.; Scarano E.; Cordelli D.M.; Fato R.; Seri M.; Paracchini S.; Bonora E.
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.
2009 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.
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
2019 Bacchelli, Elena; Loi, Eleonora; Cameli, Cinzia; Moi, Loredana; Benedetti, Ana Florencia Vega; Blois, Sylvain; Fadda, Antonio; Bonora, Elena; Mattu, Sandra; Fadda, Roberta; Chessa, Rita; Maestrini, Elena; Doneddu, Giuseppe; Zavattari, Patrizia
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.
2005 Lamb J.A.; Barnby G.; Bonora E.; Sykes N.; Bacchelli E.; Blasi F.; Maestrini E.; Broxholme J.; Tzenova J.; Weeks D.; Bailey A.J.; Monaco A.P.; International Molecular Genetic Study of Autism Consortium (IMGSAC).
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways
2012 C. Evangelisti;F. Bianco;L. M. Pradella;A. Puliti;A. Goldoni;I. Sbrana;M. Rossi;M. Vargiolu;M. Seri;G. Romeo;V. Stanghellini;R. de Giorgio;E. Bonora
Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer.
2009 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.
Association of the interleukin-4/interleukin-4 receptor genetic variants with hand osteoathrtitis.
2008 Vargiolu M.; Silvestri T.; Bonora E.; Dolzani P.; Pulsatelli L.; Punzi L.; Fioravanti A.; Facchini A.; Romeo G.; Meliconi R.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
2021 Bonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Bergamini, 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
BRAF exon 15 mutations in papillary carcinoma and adjacent thyroid parenchyma: A search for the early molecular events associated with tumor development
2020 Acquaviva G.; de Biase D.; Diquigiovanni C.; Argento C.M.; De Leo A.; Bonora E.; Rhoden K.J.; Pession A.; Tallini G.
C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes.
2007 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.
Calcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and PathologiesCalcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and Pathologies
2023 Bianca De Nicolo, Erica Cataldi-Stagetti, Chiara Diquigiovanni, Elena Bonora
Clinical and Pathological Features of Severe Gut Dysmotility
2022 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
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma
2008 Gasparre G.; Hervouet E.; de Laplanche E.; Demont J.; Pennisi L.F.; Colombel M.; Mège-Lechevallier F.; Scoazec J.Y.; Bonora E.; Smeets R.; Smeitink J.; Lazar V.; Lespinasse J.; Giraud S.; Godinot C.; Romeo G.; Simonnet H.
Correlations between Molecular Alterations, Histopathological Characteristics, and Poor Prognosis in Esophageal Adenocarcinoma
2023 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
Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help?
2018 Zuntini, Roberta; Ferrari, Simona; Bonora, Elena; Buscherini, Francesco; Bertonazzi, Benedetta; Grippa, Mina; Godino, Lea; Miccoli, Sara; Turchetti, Daniela*
| 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.pdf; cancers-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.pdf; 231308c7-61b5-43e5-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.pdf; cancers-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 |