Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno).

Autor: S Bertolini, D D Patel, D A Coviello, N Lelli, M Ghisellini, R Tiozzo, P Masturzo, N Elicio, B L Knight, S Calandra

Publikováno v: Journal of Lipid Research, Vol 35, Iss 8, Pp 1422-1430 (1994)

A novel mutation of low density lipoprotein (LDL)-receptor gene was found in an Italian family hypercholesterolemia (FH) patient during a screening of 300 FH patients. The proband as well as her daughter were found to be heterozygotes for the mutatio

Externí odkaz: https://doaj.org/article/4d955e3b2e7d44ba939b339a602bb512

Posters * Reproductive Genetics (PGD/PGS)

Autor: A. Crippa, M. C. Magli, F. Robles, A. Capoti, A. P. Ferraretti, L. Gianaroli, A. Gallina, E. Bonaparte, M. Moretti, G. M. Colpi, F. Nerva, G. Contalbi, L. Vacalluzzo, S. Tabano, F. R. Grati, G. Gazzano, S. M. Sirchia, G. Simoni, M. Miozzo, A. Handyside, A. Gabriel, A. R. Thornhill, E. Clemente, C. Reitter, N. Affara, D. K. Griffin, M. Macek, P. Feldmar, H. Kluckova, M. Hrehorcak, J. Diblik, P. Paulasova, M. Turnovec, S. Vilimova, L. Fontes, L. Haddad, E. Borges, A. Iaconelli, D. P. A. F. Braga, A. M. Vianna-Morgante, A. Komsky, E. Kasterstein, D. Komarovsky, O. Bern, B. Maslansky, T. Kaplan, A. Raziel, S. Friedler, Y. Gidoni, I. Ben-Ami, R. Ron-El, D. Strassburger, R. Maggiulli, D. Monahan, Q. V. Neri, J. C. Y. Hu, Z. Rosenwaks, G. D. Palermo, C. Beyazyurek, G. C. Ekmekci, H. A. Tac, N. Ajredin, O. Verlinsky, F. Fiorentino, S. Kahraman, M. Camp, L. Hesters, M. Le Lorc'h, R. Frydman, S. Romana, N. Frydman, J. Perez Sanz, R. Matorras, J. Arluzea, Y. Romin, J. Bilbao, N. Gonzalez-Santiago, K. Manova-Todorova, A. Koff, J. M. Rivera-Pomar, C. de la Hoz-Torres, L. Xanthopoulou, H. Ghevaria, A. Mantzouratou, P. Serhal, A. Doshi, J. D. Delhanty, Y. Ye, Y. Qian, F. Jin, S. Munne, C. Gutierrez, C. Wagner, D. Hill, K. Wiemer, J. Fischer, B. Kaplan, H. Danzer, M. Surrey, M. Opsahl, B. Hladikova, A. Sobek, E. Tkadlec, K. Kyselova, M. Nichi, R. C. S. Figueira, A. S. Setti, S. S. Colturato, C. Rubio, J. Domingo, L. Rodrigo, A. Mercader, M. J. De los Santos, T. Pehlivan, E. Bosch, M. Fernandez, C. Simon, J. Remohi, A. Pellicer, B. Perez-Nevot, A. M. Lendinez, A. R. Palomares, M. Polo, A. Rodriguez, A. Reche, M. Ruiz-Galdon, A. Reyes-Engel, E. A. H. Knauff, H. M. Blauw, K. Kok, C. Wijmenga, B. C. J. M. Fauser, L. Franke, A. Paffoni, V. Paracchini, S. Ferrari, L. Restelli, D. A. Coviello, C. Scarduelli, M. Seia, G. Ragni, N. Aoyama, Y. Takehara, S. Kawachiya, T. Kuroda, N. Kawasaki, R. Yamadera, T. Suzuki, K. Kato, O. Kato, Q. H. Xu, Z. G. Zhang, P. Zhou, Z. L. Wei, D. K. Huang, Q. Xing, Y. X. Cao, P. Fauque, M. A. Ripoche, J. Tost, L. Journot, P. Jouannet, D. Vaiman, L. Dandolo, H. Jammes, A. Hellani, A. Elsheikh, K. K. Abuamero, S. Elakoum, F. Martinez, E. Perez de la Blanca, O. Koutna, T. Cepelak, A. J. R. Sobek

Publikováno v: Human Reproduction. 25:i321-i332

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5e75844115aee0bc92081db91062d2f4
https://doi.org/10.1093/humrep/de.25.s1.534

Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in theTERT gene promoter in a single case of uveal melanoma

Autor: F Nasciuti, R Bandelloni, S Zupo, Silvia Viaggi, Francesco Lanza, Marina Gualco, Adriana Amaro, M Cecconi, D. A. Coviello, Valentina Mirisola, Carlo Mosci, Ulrich Pfeffer, Alessia Isabella Esposito, I Maric, Mauro Truini, M Dono, Giovanna Angelini

Publikováno v: British Journal of Cancer
Europe PubMed Central

Uveal melanoma is the most common primary tumour of the eye with an annual incidence of approximately two cases per million in southern European countries to eight cases in northern European countries (Virgili et al, 2007). Incidence increases with l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35c8b8ac9a0969437a1760eae6c0268d
http://hdl.handle.net/11567/686994

Cell-specific regulation of alpha1(III) and alpha2(V) collagen by TGF-beta1 in tubulointerstitial cell models

Autor: R, Bertelli, F, Valenti, R, Oleggini, G, Caridi, P, Altieri, D A, Coviello, G, Botti, R, Ravazzolo, G M, Ghiggeri

Publikováno v: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 13(3)

TGF-beta1 modulates the cellular expression of extracellular matrix (ECM) in several renal cell systems in vitro and is considered a determinant of ECM accumulation in tubulointerstitial fibrosis.We evaluated the effects of TGF-beta1 on collagen tran

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::19a59a940580766f1a52f5be30679949
https://pubmed.ncbi.nlm.nih.gov/9550630

Anti-hepatitis C virus antibodies and hepatitis C virus viraemia in haemodialysis patients

Autor: A, Picciotto, G, Varagona, G, Gurreri, F, Fiorini, A, Sofia, D A, Coviello, P, Bonanni, G C, Icardi, F, Valle, G, Celle

Publikováno v: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 8(10)

Sera from 82 haemodialysis patients were tested for anti-HCV, HCV-RNA, and HBsAg. Alanine aminotransferase (ALT) activity was monitored weekly for 2 months. Anti-HCV was positive in 31 patients (37.8%), showing different single-peptide patterns. HCV-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::21ac74aaa21287e68efbda64b4560b6a
https://pubmed.ncbi.nlm.nih.gov/8272226