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A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population

artículo científico publicado en 2017

A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy

artículo científico publicado en 2012

C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.

artículo científico

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

artículo científico publicado en 2007

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidn

artículo científico publicado en 2009

Epistatic role of the MYH9/APOL1 region on familial hematuria genes

artículo científico publicado en 2013

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria

article

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees

artículo científico publicado en 2011

Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.

artículo científico publicado en 2010

Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing

artículo científico publicado en 2014

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

artículo científico publicado en 2010

Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.

artículo científico publicado en 2015

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