Výsledky vyhledávání - "Daniela Puzzer"

Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12

Autor: Andrea Ballabio, Rosario Maiorca, Gian Marco Ghiggeri, Gianluca Caridi, Maurizio De Fusco, Francesco Scolari, Paolo Aridon, Daniela Puzzer, Giorgio Casari, Antonio Amoroso

Publikováno v: The American Journal of Human Genetics. 64:1655-1660

Summary Autosomal dominant medullary cystic disease (ADMCKD) is an interstitial nephropathy that has morphologic and clinical features similar to autosomal recessive nephronophthisis. The typical renal dysfunction associated with ADMCKD results mainl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15969089f522eb3e7092449cd4a8fa93
https://doi.org/10.1086/302414

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Detection of AGXT bgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1

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

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

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Gene symbol: AGXT. Disease: primary hyperoxaluria type I

Autor: S. Crovella, Gina Mazzola, Doroti Pirulli, Fiorella Florian, Daniela Puzzer, Cristina Ferrettini, L. Ferri, Martino Marangella, Antonio Amoroso

Publikováno v: Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2b1a2f6839a5ab4f2a38a2a23d51c2f
https://pubmed.ncbi.nlm.nih.gov/10394939

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Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus

Autor: Gianluca Caridi, Antonio Amoroso, Battista Fabio Viola, Gian Marco Ghiggeri, Rosanna Gusmano, Nicola Bossini, Silvana Savoldi, Regina Tardanico, Daniela Puzzer, Valerio Vizzardi, Prati E, Giorgio Casari, Francesco Scolari, Rosario Maiorca, B. Valzorio

Publikováno v: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 13(10)

failure. The exclusion of linkage to the NPH1 locus suggests the existence of an MCD responsible locus, Background. The nephronophthisis‐medullary cystic disease (NPH/MCD) complex represents a heterogen- still to be mapped. eous group of hereditary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75b55d29b91724245447d7b17e5306fe
https://pubmed.ncbi.nlm.nih.gov/9794556

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AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria

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

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

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Flexibility of melting temperature assay for rapid detection of insertions, deletions, and single-point mutations of the AGXT gene responsible for type 1 primary hyperoxaluria

Autor: Sergio Crovella, Doroti Pirulli, Daniela Puzzer, Antonio Amoroso, Andrea Spanò, Michele Boniotto

Publikováno v: ResearcherID
Scopus-Elsevier

Primary hyperoxaluria type 1 (PH1; OMIM 259900) is a rare autosomal recessive disorder characterized by impaired hepatic detoxification of glyoxylate. PH1 is caused by a deficiency of alanine:glyoxylate aminotransferase (AGT; EC 2.6.1.44), which cata

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9feb6fb517270589489c769ecb7761
https://www.ncbi.nlm.nih.gov/pubmed/11067824

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Rapid method for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert syndrome

Autor: Patricia Momigliano-Richiardi, Daniela Puzzer, Claudio Tiribelli, Doroti Pirulli, Mara Giordano, Antonio Amoroso, Sergio Crovella, Igino Rigato

Publikováno v: Scopus-Elsevier

Gilbert syndrome (GS) is an inherited form of chronic mild unconjugated hyperbilirubinemia (1)(2)(3), although many patients do not have a clear family history (4). Hepatic glucuronidation of bilirubin is catalyzed by isoenzyme 1A1 of UDP-glucuronosy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c94f542cfeb7e9e5279a05d775958d
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033961560&partnerID=MN8TOARS

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