Lista de obras -

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 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.

artículo científico publicado en 2008

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

artículo científico publicado en 2007

COL4A3/COL4A4Mutations Link Familial Hematuria and Focal Segmental Glomerulosclerosis. Glomerular Epithelium Destruction via Basement Membrane Thinning?

scientific article published on 01 January 2008

Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

artículo científico publicado en 2015

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

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

artículo científico publicado en 2015

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

Molecular genetics of familial hematuric diseases

artículo científico publicado en 2013

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome

artículo científico publicado en 2008

The role of molecular genetics in diagnosing familial hematuria(s).

artículo científico publicado en 2011

Lista de obras de

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

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

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

COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.

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

COL4A3/COL4A4Mutations Link Familial Hematuria and Focal Segmental Glomerulosclerosis. Glomerular Epithelium Destruction via Basement Membrane Thinning?

Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

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

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

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

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

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

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

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

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

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

Molecular genetics of familial hematuric diseases

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome

The role of molecular genetics in diagnosing familial hematuria(s).