Search Results - "Frusconi, S."

Prenatal diagnosis of haemophilia B: the Italian experience by Belvini, D., Salviato, R., Acquila, M., Bicocchi, M. P., Frusconi, S., Garagiola, I., Sanna, V., Santacroce, R., Rocino, A., Tagariello, G.

“…Summary This article describes prenatal diagnosis (PND) of haemophilia B (HB) within the framework of Italian haemophilia centres and genetics laboratories…”
Get full text

P2731Genetic ancestry analysis of the Italian founder population carrying the cardiac amyloidosis-causing variant Val122Ile in the transthyretin gene by Cappelli, F, Mazzarotto, F, Frusconi, S, Contini, E, Polimanti, R, Buxbaum, J, Martone, R, Morini, S, Taborchi, G, Bartolini, S, Olivotto, I, Pelo, E, Di Mario, C, Perfetto, F

“…Abstract Background Transthyretin amyloidosis is a life-threatening disorder caused by the deposition of TTR amyloid in various tissues and organs. The most…”
Get full text

Forensic genetics in NGS era: New frontiers for massively parallel typing by Iozzi, S., Carboni, I., Contini, E., Pescucci, C., Frusconi, S., Nutini, A.L., Torricelli, F., Ricci, U.

“…Next generation sequencing (NGS) represents the newest approach for massive DNA sequencing. Although this innovative approach is a well-established point in…”
Get full text

Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany by Torricelli, Francesca, Girolami, Francesca, Olivotto, Iacopo, Passerini, Ilaria, Frusconi, Sabrina, Vargiu, Daniela, Richard, Pascale, Cecchi, Franco

“…The prevalence and clinical profile of cardiac troponin T gene mutations were evaluated in 150 consecutive patients with hypertrophic cardiomyopathy from the…”
Get full text

Improvement of low-density microelectronic array technology to characterize 14 mutations/single-nucleotide polymorphisms from several human genes on a large scale by FRUSCONI, Sabrina, GIUSTI, Betti, ROSSI, Luciana, BERNABINI, Sara, POGGI, Filippo, GIOTTI, Irene, ABBATE, Rosanna, PEPE, Guglielmina, TORRICELLI, Francesca

Get full text

Clinical, pathological and molecular genetic studies in an Italian family affected by hereditary amyloidosis by Pelo, E., Frusconi, S., Pizzi, A., Sbernini, F., Torricelli, F., Mahjneh, L., Marconi, G.

Get full text