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List of works by Simone Sanna-Cherchi

A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

scientific article published on 14 May 2009

Apolipoprotein E in idiopathic nephrotic syndrome and focal segmental glomerulosclerosis.

scientific article

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 01 April 2019

Circulating anti-actin and anti-ATP synthase antibodies identify a sub-set of patients with idiopathic nephrotic syndrome.

scientific article published in September 2005

Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases

scientific article published on 9 August 2006

Copy-number disorders are a common cause of congenital kidney malformations

scientific article

Cyclosporine in patients with steroid-resistant nephrotic syndrome: an open-label, nonrandomized, retrospective study

scientific article published on September 2004

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

scientific article

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

article

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

scientific article published in November 2017

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

scientific article published in December 2017

Familial forms of nephrotic syndrome.

scientific article published on 09 December 2008

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds

scientific article

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

scientific article

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

scientific article

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

Glomerular clusterin is associated with PKC-α/β regulation and good outcome of membranous glomerulonephritis in humans

scientific article published on 14 June 2006

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

scientific article published on 26 January 2007

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected]

scientific article published on December 2006

Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome.

scientific article published in January 2006

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin

scientific article

Renal outcome in patients with congenital anomalies of the kidney and urinary tract.

scientific article

Risk of meningomyelocele mediated by the common 22q11.2 deletion

scientific article published on 02 May 2024

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 21 December 2018

The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.

scientific article

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

scientific article published on 30 March 2020

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