ISIDORI, FEDERICA

ISIDORI, FEDERICA  

DIPARTIMENTO DI MEDICINA SPECIALISTICA, DIAGNOSTICA E SPERIMENTALE (attivo dal 28/10/2011 al 31/12/2022)  

Dottorandi  

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Risultati 1 - 12 di 12 (tempo di esecuzione: 0.02 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
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 -
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
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 -
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 -
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
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
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 -
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.pdfcancers-16-00591-s001.zip
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
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.pdfcancers-12-02539-s001.pdf
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 -
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.pdfct9-11-e00202-s004.docxct9-11-e00202-s001.jpgct9-11-e00202-s002.pdfct9-11-e00202-s003.pdfct9-11-e00202-s005.pdf