Mario De Marchi - Publications

Analysis of BCLI, N363S and ER22/23EK Polymorphisms of the Glucocorticoid Receptor Gene in Adrenal Incidentalomas.

Journal: PloS one

Published: April 26, 2016

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.

Journal: Journal of nephrology

Published: October 04, 2015

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.

Journal: Cerebellum (London, England)

Published: May 23, 2015

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.

Journal: Cell reports

Published: April 23, 2015

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.

Journal: Scientific reports

Published: May 15, 2014

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: May 02, 2012

Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates

Journal: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia

Published: April 28, 2012

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

Journal: Kidney international

Published: January 13, 2012