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RAAS inhibition and the course of Alport syndrome

Pharmacological research, 2016-05, Vol.107, p.205-210

2016

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

Journal of the American Society of Nephrology, 2007-11, Vol.18 (11), p.3004-3016

2007

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Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees

Clinical journal of the American Society of Nephrology, 2011-06, Vol.6 (6), p.1436-1446

2011

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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

PloS one, 2014-12, Vol.9 (12), p.e115015-e115015

2014

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COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

BMC nephrology, 2018-05, Vol.19 (1), p.114-114, Article 114

2018

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

PloS one, 2012-02, Vol.7 (2), p.e31021-e31021

2012

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Genetic Variation of DKK3 May Modify Renal Disease Severity in ADPKD

Journal of the American Society of Nephrology, 2010-09, Vol.21 (9), p.1510-1520

2010

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

PloS one, 2013-03, Vol.8 (3), p.e57925-e57925

2013

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COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis

Kidney international, 2015-04, Vol.87 (4), p.859-859

2015

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COL4A3/COL4A4 Mutations Link Familial Hematuria and Focal Segmental Glomerulosclerosis. Glomerular Epithelium Destruction via Basement Membrane Thinning?

Connective Tissue Research, 2008-01, Vol.49 (3-4), p.283-288

2008

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Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

Journal of the American Society of Nephrology, 2003-05, Vol.14 (5), p.1164-1174

2003

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Molecular genetics of familial hematuric diseases

Nephrology, dialysis, transplantation, 2013-12, Vol.28 (12), p.2946-2960

2013

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

Nephron (2015), 2015-01, Vol.130 (4), p.271-280

2015

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

Pediatric nephrology (Berlin, West), 2012-08, Vol.27 (8), p.1221-1231

2012

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Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families

Kidney international, 2002-10, Vol.62 (4), p.1385-1394

2002

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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 kidney disease from focal segmental glomerulosclerosis

Nephrology, dialysis, transplantation, 2009-09, Vol.24 (9), p.2721-2729

2009

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A family with the branchio‐oto‐renal syndrome: clinical and genetic correlations

Nephrology, dialysis, transplantation, 2002-06, Vol.17 (6), p.1014-1018

2002

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On ‘Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations’

Kidney international, 2013-02, Vol.83 (2), p.331-331

2013

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

Pediatric nephrology (Berlin, West), 2012-04, Vol.27 (4), p.675-679

2012

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

Nephron (2015), 2015-01, Vol.130 (3), p.200-212

2015

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Modification of the enzyme mismatch cleavage method using T7 endonuclease I and silver staining

BioTechniques, 2004-05, Vol.36 (5), p.758-760

2004

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Autosomal dominant polycystic kidney disease—type 2. Ultrasound, genetic and clinical correlations

Nephrology, dialysis, transplantation, 2000-02, Vol.15 (2), p.205-211

2000

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

Advances in experimental medicine and biology, 2013-01, Vol.735, p.189

2013

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RAAS inhibition and the course of Alport syndrome

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

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

Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees

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

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

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

Genetic Variation of DKK3 May Modify Renal Disease Severity in ADPKD

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

COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis

COL4A3/COL4A4 Mutations Link Familial Hematuria and Focal Segmental Glomerulosclerosis. Glomerular Epithelium Destruction via Basement Membrane Thinning?

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

Molecular genetics of familial hematuric diseases

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

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

Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families

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 kidney disease from focal segmental glomerulosclerosis

A family with the branchio‐oto‐renal syndrome: clinical and genetic correlations

On ‘Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations’

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

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

Modification of the enzyme mismatch cleavage method using T7 endonuclease I and silver staining

Autosomal dominant polycystic kidney disease—type 2. Ultrasound, genetic and clinical correlations

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

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