ISIDORI, FEDERICA
ISIDORI, FEDERICA
DIPARTIMENTO DI MEDICINA SPECIALISTICA, DIAGNOSTICA E SPERIMENTALE (attivo dal 28/10/2011 al 31/12/2022)
Dottorandi
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction
2024 Pettenuzzo, Ilaria; Carli, Sara; Sánchez-Cuesta, Ana; Isidori, Federica; Montanari, Francesca; Grippa, Mina; Lanzoni, Giulia; Ambrosetti, Irene; Di Pisa, Veronica; Cordelli, Duccio Maria; Mondardini, Maria Cristina; Pippucci, Tommaso; Ragni, Luca; Cenacchi, Giovanna; Costa, Roberta; Lima, Mario; Capristo, Maria Antonietta; Tropeano, Concetta Valentina; Caporali, Leonardo; Carelli, Valerio; Brunelli, Elena; Maffei, Monica; Ahmed Sheikhmaye, Hodman; Fetta, Anna; Brea-Calvo, Gloria; Garone, Caterina
Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-obstruction
2024 Diquigiovanni, Chiara; Rizzardi, Nicola; Cataldi-Stagetti, Erica; Gozzellino, Livia; Isidori, Federica; Valenti, Francesca; Orsini, Arianna; Astolfi, Annalisa; Giangregorio, Tania; Pironi, Loris; Boschetti, Elisa; Arrigo, Serena; Maresca, Alessandra; Magnoni, Penelope; Costanzini, Anna; Carelli, Valerio; Taniguchi-Ikeda, Mariko; Fato, Romana; Bergamini, Christian; DE GIORGIO, Roberto; Bonora, Elena
miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma
2024 Bozzarelli, Isotta; Orsini, Arianna; Isidori, Federica; Mastracci, Luca; Malvi, Deborah; Lugaresi, Marialuisa; Fittipaldi, Silvia; Gozzellino, Livia; Astolfi, Annalisa; Räsänen, Jari; D’Errico, Antonia; Rosati, Riccardo; Fiocca, Roberto; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro
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
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.
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
Rasal1 and ros1 gene variants in hereditary breast cancer
2020 Isidori F.; Bozzarelli I.; Ferrari S.; Godino L.; Innella G.; Turchetti D.; Bonora E.
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations
2020 Isidori, Federica; Bozzarelli, Isotta; Mastracci, Luca; Malvi, Deborah; Lugaresi, Marialuisa; Molinari, Chiara; Söderström, Henna; Räsänen, Jari; D'Errico, Antonia; Fiocca, Roberto; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
2019 Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Graziano C.
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report
2018 Isidori, Federica; Malvi, Deborah; Fittipaldi, Silvia; Forcato, Claudio; Bozzarelli, Isotta; Sala, Claudia; Raulli, Giovanni; D'Errico, Antonia; Fiorentino, Michelangelo; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro; Lugaresi, Maria Luisa; Castellani, Gastone; Fiocca, Roberto; Mastracci, Luca; Räsänen, Jari; Söderström, Henna
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 de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature
2017 Graziano, Claudio; Gusson, Elena; Severi, Giulia; Isidori, Federica; Wischmeijer, Anita; Brugnara, Milena; Seri, Marco; Rossi, Cesare
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role
2017 Tortora, Giada; Anita, Wischmeijer; Berretta, Paolo; Alfonsi, Jacopo; Di Marco, Luca; Barbieri, Andrea; Marconi, Caterina; Isidori, Federica; Rossi, Cesare; Leone, Ornella; Di Bartolomeo, Roberto; Seri, Marco; Pacini, Davide
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction | Pettenuzzo, Ilaria; Carli, Sara; Sánchez-Cuesta, Ana; Isidori, Federica; Montanari, Francesca; Gr...ippa, Mina; Lanzoni, Giulia; Ambrosetti, Irene; Di Pisa, Veronica; Cordelli, Duccio Maria; Mondardini, Maria Cristina; Pippucci, Tommaso; Ragni, Luca; Cenacchi, Giovanna; Costa, Roberta; Lima, Mario; Capristo, Maria Antonietta; Tropeano, Concetta Valentina; Caporali, Leonardo; Carelli, Valerio; Brunelli, Elena; Maffei, Monica; Ahmed Sheikhmaye, Hodman; Fetta, Anna; Brea-Calvo, Gloria; Garone, Caterina | 2024-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | 420 COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.pdf; 41431_2024_1615_MOESM3_ESM.docx; 41431_2024_1615_MOESM2_ESM.docx |
| Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-obstruction | Diquigiovanni, Chiara; Rizzardi, Nicola; Cataldi-Stagetti, Erica; Gozzellino, Livia; Isidori, Fed...erica; Valenti, Francesca; Orsini, Arianna; Astolfi, Annalisa; Giangregorio, Tania; Pironi, Loris; Boschetti, Elisa; Arrigo, Serena; Maresca, Alessandra; Magnoni, Penelope; Costanzini, Anna; Carelli, Valerio; Taniguchi-Ikeda, Mariko; Fato, Romana; Bergamini, Christian; DE GIORGIO, Roberto; Bonora, Elena | 2024-01-01 | GASTROENTEROLOGY | - | 1.01 Articolo in rivista | Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction.pdf |
| miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma | Bozzarelli, Isotta; Orsini, Arianna; Isidori, Federica; Mastracci, Luca; Malvi, Deborah; Lugaresi..., Marialuisa; Fittipaldi, Silvia; Gozzellino, Livia; Astolfi, Annalisa; Räsänen, Jari; D’Errico, Antonia; Rosati, Riccardo; Fiocca, Roberto; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro | 2024-01-01 | CANCERS | - | 1.01 Articolo in rivista | cancers-16-00591Bozzarelli.pdf; cancers-16-00591-s001.zip |
| 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 |
| 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 |
| 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 | - |
| Rasal1 and ros1 gene variants in hereditary breast cancer | Isidori F.; Bozzarelli I.; Ferrari S.; Godino L.; Innella G.; Turchetti D.; Bonora E. | 2020-01-01 | CANCERS | - | 1.01 Articolo in rivista | cancers-12-02539-v2.pdf; cancers-12-02539-s001.pdf |
| Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations | Isidori, Federica; Bozzarelli, Isotta; Mastracci, Luca; Malvi, Deborah; Lugaresi, Marialuisa; Mol...inari, Chiara; Söderström, Henna; Räsänen, Jari; D'Errico, Antonia; Fiocca, Roberto; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro | 2020-01-01 | CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY | - | 1.01 Articolo in rivista | Targeted_Sequencing_of_Sorted_Esophageal.14.pdf; ct9-11-e00202-s004.docx; ct9-11-e00202-s001.jpg; ct9-11-e00202-s002.pdf; ct9-11-e00202-s003.pdf; ct9-11-e00202-s005.pdf |
| HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype | Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Grazi...ano C. | 2019-01-01 | CYTOGENETIC AND GENOME RESEARCH | - | 1.01 Articolo in rivista | - |
| Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report | Isidori, Federica; Malvi, Deborah; Fittipaldi, Silvia; Forcato, Claudio; Bozzarelli, Isotta; Sala..., Claudia; Raulli, Giovanni; D'Errico, Antonia; Fiorentino, Michelangelo; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro; Lugaresi, Maria Luisa; Castellani, Gastone; Fiocca, Roberto; Mastracci, Luca; Räsänen, Jari; Söderström, Henna | 2018-01-01 | BMC CANCER | - | 1.01 Articolo in rivista | Isidori2018.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 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 | 2017-01-01 | OPHTHALMIC GENETICS | - | 1.01 Articolo in rivista | - |
| Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role | Tortora, Giada; Anita, Wischmeijer; Berretta, Paolo; Alfonsi, Jacopo; Di Marco, Luca; Barbieri, A...ndrea; Marconi, Caterina; Isidori, Federica; Rossi, Cesare; Leone, Ornella; Di Bartolomeo, Roberto; Seri, Marco; Pacini, Davide | 2017-01-01 | INTERACTIVE CARDIOVASCULAR AND THORACIC SURGERY | - | 1.01 Articolo in rivista | - |