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Page 1
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.
Morales F, Couto JM, Higham CF, Hogg G, Cuenca P, Braida C, Wilson RH, Adam B, del Valle G, Brian R, Sittenfeld M, Ashizawa T, Wilcox A, Wilcox DE, Monckton DG. Morales F, et al. Among authors: braida c. Hum Mol Genet. 2012 Aug 15;21(16):3558-67. doi: 10.1093/hmg/dds185. Epub 2012 May 16. Hum Mol Genet. 2012. PMID: 22595968
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG. Braida C, et al. Hum Mol Genet. 2010 Apr 15;19(8):1399-412. doi: 10.1093/hmg/ddq015. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080938
(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families.
Rodríguez M, Camejo C, Bertoni B, Braida C, Rodríguez MM, Brais B, Medici M, Roche L. Rodríguez M, et al. Among authors: braida c. Neuromuscul Disord. 2005 Feb;15(2):185-90. doi: 10.1016/j.nmd.2004.10.012. Epub 2005 Jan 11. Neuromuscul Disord. 2005. PMID: 15694141
Problem-based learning for in-service training on breastfeeding in Friuli Venezia Giulia, Italy.
Pessa Valente E, Cattaneo A, Sola MV, Travan L, Quintero Romero S, Milinco M, Decorti C, Giornelli R, Braida C, Dalmin P, Giangreco M, Ronfani L; FVG Working Group for Instructional Design on Breastfeeding Training. Pessa Valente E, et al. Among authors: braida c. Int Breastfeed J. 2021 Nov 27;16(1):89. doi: 10.1186/s13006-021-00439-4. Int Breastfeed J. 2021. PMID: 34838079 Free PMC article.
Underreporting of congenital rubella in Italy, 2010-2014.
Giambi C, Bella A, Filia A, Del Manso M, Nacca G, Declich S, Rota MC; Regional contact points for rubella. Giambi C, et al. Eur J Pediatr. 2017 Jul;176(7):955-962. doi: 10.1007/s00431-017-2935-7. Epub 2017 May 28. Eur J Pediatr. 2017. PMID: 28551878
14 results