Marchina E, Gambera A, Spinelli E, Clerici P, Scagliola P, Sartori E, et al. Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. Fertil Steril. 2009;91:932.e7-932.e11 pubmed publisher
..Clinical and endocrinologic data are reported. This is a new rare case of a single nucleotide insertion affecting the SRY gene in 46,XY females with sex reversal. This new mutation should be considered in genetic counseling. ..
Marchina E, Misasi S, Bozzato A, Ferraboli S, Agosti C, Rozzini L, et al. Gene expression profile in fibroblasts of Huntington's disease patients and controls. J Neurol Sci. 2014;337:42-6 pubmed publisher
..Validation of the differential expressions at the protein level is required to ascertain if this cell type can be considered a suitable model for the identification of HD biomarkers. ..