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Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.
Disciglio V, Devecchi A, Palumbo O, Carella M, Penso D, Milione M, Valle G, Pierotti MA, Vitellaro M, Bertario L, Canevari S, Signoroni S, De Cecco L. Disciglio V, et al. Chin J Cancer. 2016 Jun 7;35(1):51. doi: 10.1186/s40880-016-0115-1. Chin J Cancer. 2016. PMID: 27267075 Free PMC article.
Identification of a gene expression driven progression pathway in myxoid liposarcoma.
De Cecco L, Negri T, Brich S, Mauro V, Bozzi F, Dagrada G, Disciglio V, Sanfilippo R, Gronchi A, D'Incalci M, Casali PG, Canevari S, Pierotti MA, Pilotti S. De Cecco L, et al. Among authors: disciglio v. Oncotarget. 2014 Aug 15;5(15):5965-77. doi: 10.18632/oncotarget.2023. Oncotarget. 2014. PMID: 25115389 Free PMC article.
A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma.
Frigerio S, Disciglio V, Manoukian S, Peissel B, Della Torre G, Maurichi A, Collini P, Pasini B, Gotti G, Ferrari A, Rivoltini L, Massimino M, Rodolfo M. Frigerio S, et al. Among authors: disciglio v. BMC Med Genet. 2014 May 17;15:59. doi: 10.1186/1471-2350-15-59. BMC Med Genet. 2014. PMID: 24884915 Free PMC article.
Investigation of modifier genes within copy number variations in Rett syndrome.
Artuso R, Papa FT, Grillo E, Mucciolo M, Yasui DH, Dunaway KW, Disciglio V, Mencarelli MA, Pollazzon M, Zappella M, Hayek G, Mari F, Renieri A, Lasalle JM, Ariani F. Artuso R, et al. Among authors: disciglio v. J Hum Genet. 2011 Jul;56(7):508-15. doi: 10.1038/jhg.2011.50. Epub 2011 May 19. J Hum Genet. 2011. PMID: 21593744 Free PMC article.
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. Disciglio V, et al. Am J Med Genet A. 2014 Jul;164A(7):1666-76. doi: 10.1002/ajmg.a.36513. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700646
Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort.
Pantaleo A, Forte G, Cariola F, Valentini AM, Fasano C, Sanese P, Grossi V, Buonadonna AL, De Marco K, Lepore Signorile M, Guglielmi AF, Manghisi A, Gigante G, Armentano R, Disciglio V, Simone C. Pantaleo A, et al. Among authors: disciglio v. Cancers (Basel). 2023 Oct 19;15(20):5061. doi: 10.3390/cancers15205061. Cancers (Basel). 2023. PMID: 37894428 Free PMC article.
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
Epistolato MC, Disciglio V, Livide G, Berchialla P, Mencarelli MA, Marozza A, Amenduni M, Hadjistilianou T, De Francesco S, Acquaviva A, Toti P, Cetta F, Ariani F, De Marchi M, Renieri A, Giachino D. Epistolato MC, et al. Among authors: disciglio v. J Hum Genet. 2011 Sep;56(9):685-6. doi: 10.1038/jhg.2011.82. Epub 2011 Aug 4. J Hum Genet. 2011. PMID: 21814224 Free article.
33 results