DIQUIGIOVANNI, CHIARA

DIQUIGIOVANNI, CHIARA  

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Titolo Autore(i) Anno Periodico Editore Tipo File
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
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
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 -
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
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
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 -
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 -
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
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 -
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