Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics

Autor: Claudio Rapezzi, Eloisa Arbustini, Manuela Agozzino, Maurizio Melis, Filippo Mangione, Annarita Colucci, Alexandra Smirnova, Riccardo Borroni, Elena Biagini, M Molinaro, Jagat Narula, Maurizia Rasura, Valentina Favalli, Alessandra Serio, Nupoor Narula, Antonello Ganau, Daniela Concolino, Maria Teresa Di Mascio, Antonia Nucera, GianPietro Sechi, Clelia Caspani, Camilla Vassallo, Carlo Pellegrini, Eliana Disabella, Umberto Scoditti, Marilena Tagliani, Calogero Giordano, Pamela Cassini, Massimiliano Marini, Carmela Giorgianni, Elena Antoniazzi, Anna Scarabotto, Donata Guidetti, Takahide Kodama, Marina Diomedi, Michelangelo Mancuso, Danilo Toni, Marialuisa Zedde, Luigi Tavazzi, Maurizia Grasso, Laura Scelsi, Lorenzo Giuliani, Laura Fancellu, Stefania Piga, Monica Concardi, Stefano Ghio

Publikováno v: Journal of the American College of Cardiology. 68:1037-1050

Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hyper

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16a4e8606ce7f344ebb0ee8fb8c29aa3
https://doi.org/10.1016/j.jacc.2016.05.090

Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting

Autor: Manuela Agozzino, Riccardo Borroni, I Puccio, Maurizia Grasso, Monica Concardi, Eloisa Arbustini, Clelia Caspani, Calogero Giordano, Sara Grassi, Marta Diegoli

Publikováno v: Journal of Cutaneous Pathology. 41:308-315

Glomuvenous malformations (OMIM 138000) are hamartomas presenting in childhood as multiple, bluish papules and nodules in the skin, which are characterized histopathologically by irregular vascular spaces surrounded by typical glomus cells. Glomuveno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::82df0c670fb9db32e6b7cd9138375711
https://doi.org/10.1111/cup.12283

Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting

Autor: Riccardo G, Borroni, Sara, Grassi, Monica, Concardi, Ignazio, Puccio, Calogero, Giordano, Manuela, Agozzino, Clelia, Caspani, Maurizia, Grasso, Marta, Diegoli, Eloisa, Arbustini

Glomuvenous malformations (OMIM 138000) are hamartomas presenting in childhood as multiple, bluish papules and nodules in the skin, which are characterized histopathologically by irregular vascular spaces surrounded by typical glomus cells. Glomuveno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::186c3f12a1235749787198407fc9d60c
http://hdl.handle.net/11573/1109812

Short- and long-term effects of silver nanoparticles on human microvascular endothelial cells.

Autor: Castiglioni S; Sara Castiglioni, Clelia Caspani, Alessandra Cazzaniga, Jeanette AM Maier, Dipartimento di Scienze Biomediche e Cliniche Luigi Sacco, Università di Milano, Milano 20157, Italy., Caspani C; Sara Castiglioni, Clelia Caspani, Alessandra Cazzaniga, Jeanette AM Maier, Dipartimento di Scienze Biomediche e Cliniche Luigi Sacco, Università di Milano, Milano 20157, Italy., Cazzaniga A; Sara Castiglioni, Clelia Caspani, Alessandra Cazzaniga, Jeanette AM Maier, Dipartimento di Scienze Biomediche e Cliniche Luigi Sacco, Università di Milano, Milano 20157, Italy., Maier JA; Sara Castiglioni, Clelia Caspani, Alessandra Cazzaniga, Jeanette AM Maier, Dipartimento di Scienze Biomediche e Cliniche Luigi Sacco, Università di Milano, Milano 20157, Italy.

Publikováno v: World journal of biological chemistry [World J Biol Chem] 2014 Nov 26; Vol. 5 (4), pp. 457-64.