Sfoglia per Autore
The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma
2014 Bonora, Elena; Rizzato, Cosmeri; Diquigiovanni, Chiara; Oudot-Mellakh, Tiphaine; Campa, Daniele; Vargiolu, Manuela; Guedj, Mickaël; Mckay, James D.; Romeo, Giovanni; Canzian, Federico; Lesueur, Fabienne
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.
2014 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
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
2015 Graziano, C; Wischmeijer, A; Pippucci, T; Fusco, C; Diquigiovanni, C; Nõukas, M; Sauk, M; Kurg, A; Rivieri, F; Blau, N; Hoffmann, Gf; Chaubey, A; Schwartz, Ce; Romeo, G; Bonora, E; Garavelli, L; Seri, M.
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing
2017 Bonora, Elena; Bianco, Francesca; Stanzani, Agnese; Diquigiovanni, Chiara; Rinaldi, Rita; D'Angelo, 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
Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family
2018 Kumar, Abhishek*; Bandapalli, Obul Reddy; Paramasivam, Nagarajan; Giangiobbe, Sara; Diquigiovanni, Chiara; Bonora, Elena; Eils, Roland; Schlesner, Matthias; Hemminki, Kari; Försti, Asta
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer
2018 Diquigiovanni, Chiara; Bergamini, Christian; Evangelisti, Cecilia; Isidori, Federica; Vettori, Andrea; Tiso, Natascia; Argenton, Francesco; Costanzini, Anna; Iommarini, Luisa; Anbunathan, Hima; Pagotto, Uberto; Repaci, Andrea; Babbi, Giulia; Casadio, Rita; Lenaz, Giorgio; Rhoden, Kerry J.; Porcelli, Anna Maria; Fato, Romana; Bowcock, Anne; Seri, Marco; Romeo, Giovanni; Bonora, Elena
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.
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.
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer
2021 Srivastava, Aayushi; Giangiobbe, Sara; Skopelitou, Diamanto; Miao, Beiping; Paramasivam, Nagarajan; Diquigiovanni, Chiara; Bonora, Elena; Hemminki, Kari; Försti, Asta; Bandapalli, Obul Reddy
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
Genetics of familial non-medullary thyroid carcinoma (FNMTC)
2021 Diquigiovanni C.; Bonora E.
Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility
2021 Bianco F.; Lattanzio G.; Lorenzini L.; Diquigiovanni C.; Mazzoni M.; Clavenzani P.; Calza L.; Giardino L.; Sternini C.; Bonora E.; De Giorgio R.
Calcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and Pathologies
2023 Bianca De Nicolo, Erica Cataldi-Stagetti, Chiara Diquigiovanni, Elena Bonora
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
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
2023 Diquigiovanni C.; Rizzardi N.; Kampmeier A.; Liparulo I.; Bianco F.; De Nicolo B.; Cataldi-Stagetti E.; Cuna E.; Severi G.; Seri M.; Bertrand M.; Haack T.B.; Marina A.D.; Braun F.; Fato R.; Kuechler A.; Bergamini C.; Bonora E.
Omics Technologies Improving Breast Cancer Research and Diagnostics
2023 Orsini, Arianna; Diquigiovanni, Chiara; Bonora, Elena
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
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The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma | Bonora, Elena; Rizzato, Cosmeri; Diquigiovanni, Chiara; Oudot-Mellakh, Tiphaine; Campa, Daniele; ...Vargiolu, Manuela; Guedj, Mickaël; Mckay, James D.; Romeo, Giovanni; Canzian, Federico; Lesueur, Fabienne | 2014-01-01 | INTERNATIONAL JOURNAL OF CANCER | - | 1.01 Articolo in rivista | - |
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 | 2014-01-01 | EMBO MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | Bonora.pdf |
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. | Graziano, C; Wischmeijer, A; Pippucci, T; Fusco, C; Diquigiovanni, C; Nõukas, M; Sauk, M; Kurg, A...; Rivieri, F; Blau, N; Hoffmann, Gf; Chaubey, A; Schwartz, Ce; Romeo, G; Bonora, E; Garavelli, L; Seri, M. | 2015-01-01 | GENE | - | 1.01 Articolo in rivista | - |
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 | 2017-01-01 | GASTROENTEROLOGY | - | 1.06 Abstract in rivista | - |
Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family | Kumar, Abhishek*; Bandapalli, Obul Reddy; Paramasivam, Nagarajan; Giangiobbe, Sara; Diquigiovanni..., Chiara; Bonora, Elena; Eils, Roland; Schlesner, Matthias; Hemminki, Kari; Försti, Asta | 2018-01-01 | SCIENTIFIC REPORTS | - | 1.01 Articolo in rivista | Scirep2018_Article_29952.pdf |
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer | Diquigiovanni, Chiara; Bergamini, Christian; Evangelisti, Cecilia; Isidori, Federica; Vettori, An...drea; Tiso, Natascia; Argenton, Francesco; Costanzini, Anna; Iommarini, Luisa; Anbunathan, Hima; Pagotto, Uberto; Repaci, Andrea; Babbi, Giulia; Casadio, Rita; Lenaz, Giorgio; Rhoden, Kerry J.; Porcelli, Anna Maria; Fato, Romana; Bowcock, Anne; Seri, Marco; Romeo, Giovanni; Bonora, Elena | 2018-01-01 | INTERNATIONAL JOURNAL OF CANCER | - | 1.01 Articolo in rivista | int journal cancer.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 | - |
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 |
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer | Srivastava, Aayushi; Giangiobbe, Sara; Skopelitou, Diamanto; Miao, Beiping; Paramasivam, Nagaraja...n; Diquigiovanni, Chiara; Bonora, Elena; Hemminki, Kari; Försti, Asta; Bandapalli, Obul Reddy | 2021-01-01 | FRONTIERS IN ENDOCRINOLOGY | - | 1.01 Articolo in rivista | fendo-12-600682.pdf |
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 | - |
Genetics of familial non-medullary thyroid carcinoma (FNMTC) | Diquigiovanni C.; Bonora E. | 2021-01-01 | CANCERS | - | 1.01 Articolo in rivista | cancers-13-02178-v2.pdf |
Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility | Bianco F.; Lattanzio G.; Lorenzini L.; Diquigiovanni C.; Mazzoni M.; Clavenzani P.; Calza L.; Gia...rdino L.; Sternini C.; Bonora E.; De Giorgio R. | 2021-01-01 | EUROPEAN JOURNAL OF HISTOCHEMISTRY | - | 1.01 Articolo in rivista | ejh-65-s1-3289 (1).pdf |
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 |
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q | Diquigiovanni C.; Rizzardi N.; Kampmeier A.; Liparulo I.; Bianco F.; De Nicolo B.; Cataldi-Staget...ti E.; Cuna E.; Severi G.; Seri M.; Bertrand M.; Haack T.B.; Marina A.D.; Braun F.; Fato R.; Kuechler A.; Bergamini C.; Bonora E. | 2023-01-01 | OPEN BIOLOGY | - | 1.01 Articolo in rivista | diquigiovanni-et-al-2023-mutant-spart-causes-defects-in-mitochondrial-protein-import-and-bioenergetics-reversed-by.pdf |
Omics Technologies Improving Breast Cancer Research and Diagnostics | Orsini, Arianna; Diquigiovanni, Chiara; Bonora, Elena | 2023-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | - | 1.01 Articolo in rivista | - |
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