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Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes.
Forte G, Cariola F, Buonadonna AL, Guglielmi AF, Manghisi A, De Marco K, Grossi V, Fasano C, Lepore Signorile M, Sanese P, Bagnulo R, Resta N, Disciglio V, Simone C. Forte G, et al. Among authors: disciglio v. Genes Dis. 2022 Dec 27;10(4):1187-1189. doi: 10.1016/j.gendis.2022.11.017. eCollection 2023 Jul. Genes Dis. 2022. PMID: 37397536 Free PMC article. No abstract available.
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA.
Livide G, Epistolato MC, Amenduni M, Disciglio V, Marozza A, Mencarelli MA, Toti P, Lazzi S, Hadjistilianou T, De Francesco S, D'Ambrosio A, Renieri A, Ariani F. Livide G, et al. Among authors: disciglio v. Pathol Oncol Res. 2012 Jul;18(3):703-12. doi: 10.1007/s12253-012-9498-8. Epub 2012 Jan 26. Pathol Oncol Res. 2012. PMID: 22278416 Free article.
iPS cells to model CDKL5-related disorders.
Amenduni M, De Filippis R, Cheung AY, Disciglio V, Epistolato MC, Ariani F, Mari F, Mencarelli MA, Hayek Y, Renieri A, Ellis J, Meloni I. Amenduni M, et al. Among authors: disciglio v. Eur J Hum Genet. 2011 Dec;19(12):1246-55. doi: 10.1038/ejhg.2011.131. Epub 2011 Jul 13. Eur J Hum Genet. 2011. PMID: 21750574 Free PMC article.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Ker… See abstract for full author list ➔ Jacquemont S, et al. Among authors: disciglio v. Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406. Nature. 2011. PMID: 21881559 Free PMC article.
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA. Bijlsma EK, et al. Among authors: disciglio v. Eur J Med Genet. 2012 Jun;55(6-7):404-13. doi: 10.1016/j.ejmg.2012.02.009. Epub 2012 Mar 29. Eur J Med Genet. 2012. PMID: 22522176 Free PMC article.
FOXO3 on the Road to Longevity: Lessons From SNPs and Chromatin Hubs.
Sanese P, Forte G, Disciglio V, Grossi V, Simone C. Sanese P, et al. Among authors: disciglio v. Comput Struct Biotechnol J. 2019 Jun 13;17:737-745. doi: 10.1016/j.csbj.2019.06.011. eCollection 2019. Comput Struct Biotechnol J. 2019. PMID: 31303978 Free PMC article. Review.
Targeting SMYD3 to Sensitize Homologous Recombination-Proficient Tumors to PARP-Mediated Synthetic Lethality.
Sanese P, Fasano C, Buscemi G, Bottino C, Corbetta S, Fabini E, Silvestri V, Valentini V, Disciglio V, Forte G, Lepore Signorile M, De Marco K, Bertora S, Grossi V, Guven U, Porta N, Di Maio V, Manoni E, Giannelli G, Bartolini M, Del Rio A, Caretti G, Ottini L, Simone C. Sanese P, et al. Among authors: disciglio v. iScience. 2020 Oct 7;23(10):101604. doi: 10.1016/j.isci.2020.101604. eCollection 2020 Oct 23. iScience. 2020. PMID: 33205017 Free PMC article.
33 results