Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ermanno De Paoli Vitali"'
Autor:
Ugo Vertolli, Josef Nachtigal, Augusto Antonello, Ermanno De Paoli Vitali, R. Graziotto, Michele Piva, Riccardo Zagatti, Franca Anglani, Angela D'Angelo, Enrica Tosetto, Carmelo Cascone, Giovanni Gambaro, L. Artifoni, L. Citron, Federico Nalesso, Antonio Lupo, Piero Conz, Roberto Dell'Aquila
Publikováno v:
Journal of Human Genetics. 51:25-30
Dent’s disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f288167a68b4a6cbe5ebc1f52315d917
https://doi.org/10.1007/s10038-005-0317-x
https://doi.org/10.1007/s10038-005-0317-x
Publikováno v:
La Radiologia medica. 106(3 Suppl 1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e45d8da4c94ec67fa72ca9ddd0d6aca0
https://pubmed.ncbi.nlm.nih.gov/14710432
https://pubmed.ncbi.nlm.nih.gov/14710432
Autor:
Gianni Cappelli, Ermanno De Paoli Vitali, Costantina La Torre, Giuseppina Augello, Laura del Senno, Monica Garbo, Roberta Piva, Letizia Penolazzi, Simone Savelli, Gianluca Aguiari, A Bozza
Publikováno v:
Human mutation. 16(5)
Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder mostly characterized by cyst formation in kidney tubules. The majority of ADPKD cases is caused by mutations in the PKD1 gene, but no prevalent mutation has been reported. By h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c25b35ad3af0a91a71c0a566e39a4f5
https://pubmed.ncbi.nlm.nih.gov/11058904
https://pubmed.ncbi.nlm.nih.gov/11058904
Autor:
Fabiola Micheletti, Giuseppina Augello, Laura del Senno, Stefan Somlo, Elisa Manzati, Yiqiang Cai, Ermanno De Paoli Vitali, Letizia Penolazzi, David Reynolds, Gianni Cappelli, Gianluca Aguiari, Roberta Piva
Publikováno v:
American journal of kidney diseases : the official journal of the National Kidney Foundation. 33(5)
The polycystic kidney disease 2 (PKD2) gene, encoding a 968-amino acid integral membrane protein with six predicted membrane-spanning domains and intracellular NH2 and COOH termini, is mutated in approximately 15% of the cases of autosomal dominant p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee6d8f243af48c21b427d8dad103c787
https://pubmed.ncbi.nlm.nih.gov/10213643
https://pubmed.ncbi.nlm.nih.gov/10213643
Autor:
Ricci, Giorgio, Massimo, Masotti, Ermanno, De Paoli Vitali, Marta, Vedovato, Giuliano, Zanotti
Publikováno v:
European Journal of Haematology; Sep1990, Vol. 45 Issue 3, p178-179, 2p
Autor:
Tosetto, Enrica1, Graziotto, Romina1, Artifoni, Lina1, Nachtigal, Josef2, Cascone, Carmelo3, Conz, Piero4, Piva, Michele5, Dell’Aquila, Roberto6, De Paoli Vitali, Ermanno7, Citron, Lorenzo8, Nalesso, Federico8, Antonello, Augusto8, Vertolli, Ugo8, Zagatti, Riccardo8, Lupo, Antonio9, D’Angelo, Angela8, Anglani, Franca1, Gambaro, Giovanni9,10 giovanni.gambaro@univr.it
Publikováno v:
Journal of Human Genetics. Jan2006, Vol. 51 Issue 1, p25-30. 6p. 1 Chart.
Autor:
De Paoli Vitali, E., Guglielmini, C., Casoni, I., Vedovato, M., Gilli, P., Farinelli, A., Salvatorelli, G., Conconi, F.
Publikováno v:
International Journal of Sports Medicine; 1988, Vol. 9 Issue 2, p99-101, 3p