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Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.
Sagna T, Bonora E, Ouedraogo MNL, Fusco D, Zoure AA, Bisseye C, Djigma F, Kafando JG, Zongo N, Douamba Z, Obiri-Yeboah D, Turchetti D, Pietra V, Lompo OM, Ouedraogo C, Seri M, Simpore J. Sagna T, et al. Among authors: bonora e. Biomol Concepts. 2019 Jun 11;10(1):120-127. doi: 10.1515/bmc-2019-0015. Biomol Concepts. 2019. PMID: 31203256
RASAL1 and ROS1 Gene Variants in Hereditary Breast Cancer.
Isidori F, Bozzarelli I, Ferrari S, Godino L, Innella G, Turchetti D, Bonora E. Isidori F, et al. Among authors: bonora e. Cancers (Basel). 2020 Sep 7;12(9):2539. doi: 10.3390/cancers12092539. Cancers (Basel). 2020. PMID: 32906649 Free PMC article.
The RET51/FKBP52 complex and its involvement in Parkinson disease.
Fusco D, Vargiolu M, Vidone M, Mariani E, Pennisi LF, Bonora E, Capellari S, Dirnberger D, Baumeister R, Martinelli P, Romeo G. Fusco D, et al. Among authors: bonora e. Hum Mol Genet. 2010 Jul 15;19(14):2804-16. doi: 10.1093/hmg/ddq181. Epub 2010 May 4. Hum Mol Genet. 2010. PMID: 20442138
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. Graziano C, et al. Among authors: bonora e. Gene. 2015 Apr 1;559(2):144-8. doi: 10.1016/j.gene.2015.01.026. Epub 2015 Jan 14. Gene. 2015. PMID: 25597765
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report.
Isidori F, Malvi D, Fittipaldi S, Forcato C, Bozzarelli I, Sala C, Raulli G, D'Errico A, Fiorentino M, Seri M, Krishnadath KK, Bonora E, Mattioli S; EAC-BAGH group. Isidori F, et al. Among authors: bonora e. BMC Cancer. 2018 Sep 12;18(1):889. doi: 10.1186/s12885-018-4789-4. BMC Cancer. 2018. PMID: 30208867 Free PMC article.
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways.
Evangelisti C, Bianco F, Pradella LM, Puliti A, Goldoni A, Sbrana I, Rossi M, Vargiolu M, Seri M, Romeo G, Stanghellini V, de Giorgio R, Bonora E. Evangelisti C, et al. Among authors: bonora e. Neurogastroenterol Motil. 2012 Oct;24(10):e497-508. doi: 10.1111/j.1365-2982.2012.01998.x. Epub 2012 Aug 16. Neurogastroenterol Motil. 2012. PMID: 22897442
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.
Ciavarella M, Miccoli S, Prossomariti A, Pippucci T, Bonora E, Buscherini F, Palombo F, Zuntini R, Balbi T, Ceccarelli C, Bazzoli F, Ricciardiello L, Turchetti D, Piazzi G. Ciavarella M, et al. Among authors: bonora e. Eur J Hum Genet. 2018 Mar;26(3):387-395. doi: 10.1038/s41431-017-0086-y. Epub 2018 Jan 24. Eur J Hum Genet. 2018. PMID: 29367705 Free PMC article.
496 results