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Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy.
Biagini E, Olivotto I, Iascone M, Parodi MI, Girolami F, Frisso G, Autore C, Limongelli G, Cecconi M, Maron BJ, Maron MS, Rosmini S, Formisano F, Musumeci B, Cecchi F, Iacovoni A, Haas TS, Bacchi Reggiani ML, Ferrazzi P, Salvatore F, Spirito P, Rapezzi C. Biagini E, et al. Among authors: cecconi m. Am J Cardiol. 2014 Sep 1;114(5):769-76. doi: 10.1016/j.amjcard.2014.05.065. Epub 2014 Jun 19. Am J Cardiol. 2014. PMID: 25037680
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
Cecconi M, Parodi MI, Formisano F, Spirito P, Autore C, Musumeci MB, Favale S, Forleo C, Rapezzi C, Biagini E, Davì S, Canepa E, Pennese L, Castagnetta M, Degiorgio D, Coviello DA. Cecconi M, et al. Int J Mol Med. 2016 Oct;38(4):1111-24. doi: 10.3892/ijmm.2016.2732. Epub 2016 Sep 7. Int J Mol Med. 2016. PMID: 27600940 Free PMC article.
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.
Madia F, Gennaro E, Cecconi M, Buti D, Capovilla G, Dalla Bernardina B, Elia M, Ferrari A, Fontana E, Gaggero R, Giannotta M, Giordano L, Granata T, La Selva L, Luisa Lispi M, Santucci M, Vanadia F, Veggiotti P, Vigliano P, Viri M, Dagna Bricarelli F, Bianchi A, Zara F. Madia F, et al. Among authors: cecconi m. Epilepsy Res. 2003 Mar;53(3):196-200. doi: 10.1016/s0920-1211(03)00022-6. Epilepsy Res. 2003. PMID: 12694927
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Cecconi M, et al. Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492. Am J Med Genet A. 2005. PMID: 15742365
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey.
Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S, Bellini C, Neri G, Martinoli E, Simi P, Dalprà L, Genuardi M, Dagna-Bricarelli F, Calzolari E. Sensi A, et al. Among authors: cecconi m. Prenat Diagn. 2004 Aug;24(8):647-52. doi: 10.1002/pd.962. Prenat Diagn. 2004. PMID: 15305356
567 results