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Page 1
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.
Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M, Manzini MC, Battaglia R, Marozzi A, Vegetti W, Dalprà L, Crosignani PG, Ginelli E, Nappi R, Bernabini S, Bruni V, Torricelli F, Zuffardi O, Toniolo D. Bione S, et al. Among authors: ricotti r. Hum Reprod. 2004 Dec;19(12):2759-66. doi: 10.1093/humrep/deh502. Epub 2004 Sep 30. Hum Reprod. 2004. PMID: 15459172
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. Raffaele Di Barletta M, et al. Among authors: ricotti r. Am J Hum Genet. 2000 Apr;66(4):1407-12. doi: 10.1086/302869. Epub 2000 Mar 16. Am J Hum Genet. 2000. PMID: 10739764 Free PMC article.
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D. Vytopil M, et al. Among authors: ricotti r. J Med Genet. 2003 Dec;40(12):e132. doi: 10.1136/jmg.40.12.e132. J Med Genet. 2003. PMID: 14684700 Free PMC article. No abstract available.
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M. Kuschal C, et al. Among authors: ricotti r. Am J Hum Genet. 2016 Apr 7;98(4):627-42. doi: 10.1016/j.ajhg.2016.02.008. Epub 2016 Mar 17. Am J Hum Genet. 2016. PMID: 26996949 Free PMC article.
Super-telomeres in transformed human fibroblasts.
Chiodi I, Belgiovine C, Zongaro S, Ricotti R, Horard B, Lossani A, Focher F, Gilson E, Giulotto E, Mondello C. Chiodi I, et al. Among authors: ricotti r. Biochim Biophys Acta. 2013 Aug;1833(8):1885-93. doi: 10.1016/j.bbamcr.2013.03.030. Epub 2013 Apr 6. Biochim Biophys Acta. 2013. PMID: 23570868 Free article.
78 results