Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Silvia Zezlina"'
Autor:
Sergio Crovella, Antonio Amoroso, Silvia Zezlina, Doroti Pirulli, Laura Vatta, Dario Roccatello, Andrea Spanò, Michele Boniotto, Licia Peruzzi, Francesco Scolari, Marcello Morgutti, Silvana Savoldi, Laura Bertola
Publikováno v:
ResearcherID
Scopus-Elsevier
Scopus-Elsevier
Background. IgA nephropathy (IgAN) occurs sporadically in unrelated individuals. Several different polymorphic genes have been investigated in recent years in order to demonstrate their possible association with IgAN. Three recent, different studies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::274e9af48fcebc851507d3bd3d84e027
https://doi.org/10.1093/ndt/16.4.759
https://doi.org/10.1093/ndt/16.4.759
Autor:
Martino Marangella, Fiorella Florian, Sergio Crovella, Patricia Momigliano-Richiardi, M. Lessi, Doroti Pirulli, Silvana Savoldi, Silvia Zezlina, Mara Giordano, Antonio Amoroso, Daniela Puzzer, Andrea Spanò, Michele Boniotto
Publikováno v:
Scopus-Elsevier
ResearcherID
ResearcherID
Primary hyperoxaluria type 1 is an autosomal recessive disorder of glyoxylate metabolism, caused by a deficiency of alanine:glyoxylate aminotransferase, which is encoded by a single copy gene (AGXT). The aim of this research was to standardize denatu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dfcd8963eba6841cd5c684496699af2
https://pubmed.ncbi.nlm.nih.gov/11699734
https://pubmed.ncbi.nlm.nih.gov/11699734
Autor:
Giuseppe Cazzato, A. Gemma, Silvia Zezlina, N. Carraro, Ante Jurjević, L. Bonfigli, Doroti Pirulli, Sergio Crovella, Fabrizio Zanconati, G. Masè, M. Rolfo, S. Ros, Juraj Sepčić, Michele Boniotto, Antonio Amoroso
Publikováno v:
ResearcherID
Background: amyotrophic lateral sclerosis(ALS)is a progressive neurological disorder. The mutation of Cu/Zn superoxide dismutase gene(SOD1) are responsible for familial ALS.We investigated a large family of Istro-Rumanian origin characterized by an a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a05bdf5730b0b35523780de2ab854f5
http://hdl.handle.net/2318/1672390
http://hdl.handle.net/2318/1672390
Autor:
Palomba E, Sergio Crovella, Antonio Amoroso, Gabriella Scarlatti, Laura Vatta, Andrea Spanò, Pier-Angelo Tovo, Michele Boniotto, Silvia Zezlina, Doroti Pirulli
Publikováno v:
Scopus-Elsevier
We investigated the polymorphisms of the promoter region of the MBL2 gene, which codifies for the Mannose-binding protein (MBP). The study population included 90 children with vertically acquired HIV-infection, further divided on the basis of the dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26bd2cd6972cfb145892ee1a504873f0
http://hdl.handle.net/2318/38053
http://hdl.handle.net/2318/38053
Autor:
Tiziana Mongini, Guido Tarone, Silvia Zezlina, I. Ugo, Laura Vatta, Sergio Crovella, Michele Boniotto, Antonio Amoroso, Paola Di Stefano, Laura Palmucci, Doroti Pirulli
Publikováno v:
Human Mutation. 16:180-180
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5a6063dffaa94fb0a442b2222cd4463
https://doi.org/10.1002/1098-1004(200008)16:2<180::aid-humu18>3.0.co
https://doi.org/10.1002/1098-1004(200008)16:2<180::aid-humu18>3.0.co
Autor:
Martino Marangella, Andrea Spanò, Silvana Savoldi, Michele Boniotto, Fiorella Florian, Gina Mazzola, Silvia Zezlina, Daniela Puzzer, Michele Petrarulo, Antonio Amoroso, Doroti Pirulli, Silvia Berutti, Cristina Ferrettini, Sergio Crovella
Publikováno v:
ResearcherID
Scopus-Elsevier
Scopus-Elsevier
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder that is caused by a deficiency of alanine: glyoxylate aminotransferase (AGT), which is encoded by a single copy gene (AGXT). Molecular diagnosis was used in conjunction with clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c163e1b7342d39c90e240c39f31651
https://www.ncbi.nlm.nih.gov/pubmed/11562405
https://www.ncbi.nlm.nih.gov/pubmed/11562405