DIQUIGIOVANNI, CHIARA
DIQUIGIOVANNI, CHIARA
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism
2019-01-01 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
2020-01-01 Acquaviva G.; de Biase D.; Diquigiovanni C.; Argento C.M.; De Leo A.; Bonora E.; Rhoden K.J.; Pession A.; Tallini G.
Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family
2018-01-01 Kumar A.; Bandapalli O.R.; Paramasivam N.; Giangiobbe S.; Diquigiovanni C.; Bonora E.; Eils R.; Schlesner M.; Hemminki K.; Forsti A.
Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.
2014-01-01 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; IMGSAC, Maestrini E, Seri M, Romeo G.
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer
2018-01-01 Diquigiovanni C.; Bergamini C.; Evangelisti C.; Isidori F.; Vettori A.; Tiso N.; Argenton F.; Costanzini A.; Iommarini L.; Anbunathan H.; Pagotto U.; Repaci A.; Babbi G.; Casadio R.; Lenaz G.; Rhoden K.J.; Porcelli A.M.; Fato R.; Bowcock A.; Seri M.; Romeo G.; Bonora E.
Syndromic intellectual disability: A new phenotype caused by an 2 aromatic amino acid decarboxylase gene (DDC) variant
2015-01-01 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.
The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma.
2014-01-01 Bonora E1, Rizzato C, Diquigiovanni C, Oudot-Mellakh T, Campa D, Vargiolu M, Guedj M; NMTC Consortium, McKay JD, Romeo G, Canzian F, Lesueur F.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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. | |
| Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family | 2018 | Kumar A.; Bandapalli O.R.; Paramasivam N.; Giangiobbe S.; Diquigiovanni C.; Bonora E.; Eils R.; Schlesner M.; Hemminki K.; Forsti A. | |
| 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; IMGSAC, Maestrini E, Seri M, Romeo G. | |
| Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer | 2018 | Diquigiovanni C.; Bergamini C.; Evangelisti C.; Isidori F.; Vettori A.; Tiso N.; Argenton F.; Costanzini A.; Iommarini L.; Anbunathan H.; Pagotto U.; Repaci A.; Babbi G.; Casadio R.; Lenaz G.; Rhoden K.J.; Porcelli A.M.; Fato R.; Bowcock A.; Seri M.; Romeo G.; Bonora E. | |
| Syndromic intellectual disability: A new phenotype caused by an 2 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. | |
| The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma. | 2014 | Bonora E1, Rizzato C, Diquigiovanni C, Oudot-Mellakh T, Campa D, Vargiolu M, Guedj M; NMTC Consortium, McKay JD, Romeo G, Canzian F, Lesueur F. |