C. Deltas

E. Frangou, K. Kyriacou, C. Deltas, 2019, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

K. Dahan, C. Antignac, M. Wolf, 2015, Kidney international.

Mitral Valve Prolapse and Out-of-Hospital Cardiac Arrest: A Case Report and Literature Review

C. Deltas, M. Ioannides, P. Avraamides, 2022 .

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

M. Lee, E. Khusnutdinova, Á. Carracedo, 2016, PloS one.

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

M. Zacchia, P. Byers, M. Gregory, 2021, European Journal of Human Genetics.

Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1.

K. Dahan, T. Fehr, D. Gale, 2020, Kidney international.

Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review

C. Deltas, A. Matthaiou, Tsielestina Poulli, 2020, Clinical kidney journal.

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

M. Christie, D. Wedge, N. López-Bigas, 2022, American journal of human genetics.

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

K. Voskarides, A. Pierides, C. Deltas, 2015, Nephron.

Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes

K. Voskarides, D. Gale, A. Pierides, 2013, PloS one.

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes.

K. Tory, C. Shaw-Smith, A. Jakubowska, 2020, Kidney international.

Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches.

K. Voskarides, C. Deltas, 2009, The Journal of molecular diagnostics : JMD.

RAAS inhibition and the course of Alport syndrome.

A. Pierides, C. Deltas, I. Savva, 2016, Pharmacological research.

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.

A. Jakubowska, E. Ziętkiewicz, M. Szczepańska, 2020, Kidney international.

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

K. Voskarides, A. Pierides, C. Deltas, 2011, Pediatric Nephrology.

Lack of association between endothelial nitric oxide synthase gene polymorphisms and risk of premature coronary artery disease in the Greek population

G. Dedoussis, P. Nastos, K. Lamnissou, 2008, Acta cardiologica.

Evidence for activation of the unfolded protein response in collagen IV nephropathies.

H. Dweep, N. Gretz, K. Voskarides, 2014, Journal of the American Society of Nephrology : JASN.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

B. Blumenstiel, K. Hodaňová, O. Viklicky, 2018, Journal of the American Society of Nephrology : JASN.

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

J. Kelsoe, P. Kimmel, A. Mégarbané, 2014, Clinical journal of the American Society of Nephrology : CJASN.

Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1.

A. Pierides, C. Deltas, C. Stavrou, 2003, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Familial Mediterranean fever associated pyrin mutations in Greece

D. Mavrogianni, C. Deltas, A. Tzioufas, 2003, Annals of the rheumatic diseases.

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

Jie Ding, D. Crockett, R. Cotton, 2014, Pediatric Nephrology.

Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies.

C. Deltas, L. Perin, O. Gross, 2014, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome

C. Deltas, Stavros Nikolaou, 2022, Genes.

Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population

K. Voskarides, C. Deltas, S. Chrysanthou, 2014, BMC Research Notes.

RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2

C. Deltas, G. Portides, L. Phylactou, 2011, Journal of endocrinological investigation.

Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation.

T. Passalaris, C. Deltas, N. Skordis, 2004, Genetic testing.

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

T. Pippucci, K. Voskarides, C. Deltas, 2018, European journal of medical genetics.

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

K. Voskarides, A. Pierides, C. Deltas, 2015, Genetic testing and molecular biomarkers.

X‐linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5

K. Voskarides, A. Pierides, C. Deltas, 2012, Clinical genetics.

Founder Mutations in the ATP6V1B1 GeneExplain Most Cypriot Cases of Distal Renal Tubular Acidosis: First Prenatal Diagnosis

K. Voskarides, A. Pierides, C. Deltas, 2010, Nephron Clinical Practice.

Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece

E. Frangou, C. Deltas, A. Papagianni, 2022, Genes.

Thin basement membrane lesion is not only a collagen IV nephropathy: Don't underestimate "decorative" additions to collagens.

C. Deltas, 2022, Kidney international.

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

K. Voskarides, A. Pierides, C. Deltas, 2008, Genetic testing.

Molecular genetics of familial hematuric diseases.

K. Voskarides, A. Pierides, C. Deltas, 2013, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.

K. Voskarides, A. Pierides, C. Deltas, 2013, Hippokratia.

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

K. Voskarides, A. Pierides, C. Deltas, 2013, Kidney international.

Full Reviews Molecular genetics of familial hematuric diseases With blog commentary

K. Voskarides, A. Pierides, C. Deltas, 2013 .

Genotype–phenotype correlation in X‐linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5

P. Koupepidou, C. Deltas, M. Pieri, 2012, Clinical genetics.

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.

K. Kyriacou, K. Voskarides, A. Pierides, 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

K. Voskarides, A. Pierides, C. Deltas, 2015, Nephron.

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

K. Voskarides, A. Pierides, C. Deltas, 2012, Pediatric Nephrology.

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

A. Pierides, C. Deltas, 2015, Kidney international.

The Power of Molecular Genetics in Establishing the Diagnosis and Offering Prenatal Testing: The Case for Alport Syndrome

K. Voskarides, A. Pierides, C. Deltas, 2012 .

Altered metabolic pathways in clear cell renal cell carcinoma: A meta-analysis and validation study focused on the deregulated genes and their associated networks

Ioanna Zouvani, Apostolos Zaravinos, Myrtani Pieri, 2014, Oncoscience.

Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology.

C. Sismani, C. Deltas, P. Patsalis, 1997, Genetic counseling.

Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy

A. Gnirke, E. Lander, T. Golub, 2019, Cell.

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

F. Kronenberg, B. Paulweber, T. Benzing, 2017, PloS one.

New miRNA Profiles Accurately Distinguish Renal Cell Carcinomas and Upper Tract Urothelial Carcinomas from the Normal Kidney

C. Deltas, G. Lambrou, A. Zaravinos, 2014, PloS one.

RETproto-oncogenemutationsarerestrictedtocodon618 inCypriotfamilieswithmultipleendocrineneoplasia2

C. Deltas, G. Portides, L. Phylactou, 2011 .

A mathematical model of the unfolded protein stress response reveals the decision mechanism for recovery, adaptation and apoptosis

Kamil Erguler, Myrtani Pieri, Constantinos Deltas, 2013, BMC Systems Biology.

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

K. Voskarides, A. Pierides, C. Deltas, 2008, Connective tissue research.

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

K. Kyriacou, K. Voskarides, A. Pierides, 2007, Journal of the American Society of Nephrology : JASN.

Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities.

C. Sismani, C. Koufaris, C. Deltas, 2015, Gene.

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek‐Cypriots, with emphasis on dehydration as presenting symptom

M. Tzetis, E. Kanavakis, C. Deltas, 2007, Clinical genetics.

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

Ann M. Johnson, P. S. St George-Hyslop, E. Coto, 2003, Journal of the American Society of Nephrology : JASN.

A miR-1207-5p Binding Site Polymorphism Abolishes Regulation of HBEGF and Is Associated with Disease Severity in CFHR5 Nephropathy

Harsh Dweep, Norbert Gretz, Kamil Erguler, 2012, PloS one.

Genetic variation of DKK3 may modify renal disease severity in ADPKD.

A. Paterson, M. Laakso, E. Coto, 2010, Journal of the American Society of Nephrology : JASN.

CNVs-microRNAs Interactions Demonstrate Unique Characteristics in the Human Genome. An Interspecies in silico Analysis

H. Dweep, N. Gretz, K. Voskarides, 2013, PloS one.

Identifi Cation of a Mutation in Complement Factor H-related Protein 5 in Patients of Cypriot Origin with Glomerulonephritis

Frcp, K. Kyriacou, A. Hadjisavvas, 2022 .

A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

K. Voskarides, C. Deltas, A. Zaravinos, 2014, Journal of Genetics.

Nephrogenetics and Nephrodiagnostics: Contemporary Molecular Approaches in the Genomics Era

C. Deltas, 2018 .

Omega‐3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model

C. Deltas, E. Prokopiou, P. Kolovos, 2018, Experimental eye research.

The 2019 and 2021 International Workshops on Alport Syndrome

Jie Ding, D. Gale, H. Kai, 2022, European Journal of Human Genetics.

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.

K. Voskarides, C. Deltas, S. Abdelhak, 2014, Genetic testing and molecular biomarkers.

Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients

C. Deltas, A. Tzioufas, H. Moutsopoulos, 2004, Annals of the rheumatic diseases.

Guidelines for Genetic Testing and Management of Alport Syndrome.

M. Zacchia, P. Byers, M. Gregory, 2021, Clinical journal of the American Society of Nephrology : CJASN.

Cystic diseases of the kidney: molecular biology and genetics.

C. Deltas, Gregory Papagregoriou, 2010, Archives of pathology & laboratory medicine.

Integration of Biobanks in National eHealth Ecosystems Facilitating Long-Term Longitudinal Clinical-Omics Studies and Citizens' Engagement in Research Through eHealthBioR

Athos Antoniades, Apostolos Malatras, Christos N. Schizas, 2021, Frontiers in Digital Health.

Increased number of microRNA target sites in genes encoded in CNV regions. Evidence for an evolutionary genomic interaction.

Harsh Dweep, Norbert Gretz, Carsten Sticht, 2011, Molecular biology and evolution.

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

K. Voskarides, A. Pierides, C. Deltas, 2018, BMC Nephrology.

Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

A. Need, M. Kayikci, M. Caulfield, 2022, Scientific Reports.

Evidence for miR-548c-5p regulation of FOXC2 transcription through a distal genomic target site in human podocytes

H. Dweep, N. Gretz, K. Felekkis, 2019, Cellular and Molecular Life Sciences.

Therapeutic potential of omega-3 fatty acids supplementation in a mouse model of dry macular degeneration

C. Deltas, E. Prokopiou, P. Kolovos, 2017, BMJ Open Ophthalmology.

Frequent COL4 mutations in familial microhematuria accompanied by later‐onset Alport nephropathy due to focal segmental glomerulosclerosis

K. Voskarides, D. Gale, A. Pierides, 2017, Clinical genetics.

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

K. Voskarides, A. Pierides, C. Deltas, 2014, PloS one.

Dynamic monitoring of PD‐L1 and Ki67 in circulating tumor cells of metastatic non‐small cell lung cancer patients treated with pembrolizumab

M. Spiliotaki, C. Deltas, G. Gregoriou, 2022, Molecular oncology.

A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome

P. Ioannou, C. Deltas, K. Stylianou, 2020, Matrix biology plus.

Circulating IgG Levels in SARS-CoV-2 Convalescent Individuals in Cyprus

Andrea C. Kakouri, C. Deltas, Eirini Christaki, 2021, Journal of clinical medicine.

Serum total homocysteine, folate, 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T genotype and subclinical atherosclerosis

A. Nicolaides, M. Griffin, D. Bond, 2009, Expert opinion on therapeutic targets.

Thin basement membrane nephropathy: is there genetic predisposition to more severe disease?

C. Deltas, 2009, Pediatric Nephrology.

ccRCC is fundamentally a metabolic disorder

C. Deltas, A. Zaravinos, 2014, Cell cycle.

Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia

M. Christie, D. Wedge, N. López-Bigas, 2021, bioRxiv.

Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population

K. Voskarides, C. Deltas, S. Chrysanthou, 2014, BMC Research Notes.

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

T. Friede, Jie Ding, Yanqin Zhang, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

K. Voskarides, C. Deltas, A. Zaravinos, 2014, Journal of Genetics.

microRNAs: a newly described class of encoded molecules that play a role in health and disease.

C. Deltas, K. Felekkis, C. Deltas, 2010, Hippokratia.

PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

Patricia A. Gabow, William J. Kimberling, Martijn H. Breuning, 1996, Science.

Full Reviews Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

T. Friede, Jie Ding, Yanqin Zhang, 2017 .

Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus.

A. Pierides, C. Deltas, S. Trygonis, 2004, Genetic testing.

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

D. Gale, C. Deltas, J. Savige, 2023, Genes.

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

K. Voskarides, A. Pierides, C. Deltas, 2013, Advances in experimental medicine and biology.

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2013 .

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2010 .

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

K. Kyriacou, F. Hildebrandt, A. Pierides, 2002, Kidney international.

Genomic classifiers in personalized prostate cancer radiotherapy approaches - a systematic review and future perspectives based on international consensus.

Xiao Zhi Qiu, J. Epstein, T. Wiegel, 2022, International journal of radiation oncology, biology, physics.

Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies.

C. Deltas, L. Perin, O. Gross, 2014, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A mathematical model of the unfolded protein stress response reveals the decision mechanism for recovery , adaptation and apoptosis

C. Deltas, K. Erguler, M. Pieri, 2012 .

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

A. Pierides, C. Deltas, C. Deltas, 2000, Human molecular genetics.

Altered metabolic pathways in clear cell renal cell carcinoma: A meta-analysis and validation study focused on the deregulated genes and their associated networks

C. Deltas, A. Zaravinos, D. Delakas, 2014, Oncoscience.

Prevalence of Genetic Mutations That Predispose to Thrombophilia in a Greek Cypriot Population

A. Nicolaides, K. Angelopoulou, C. Deltas, 2000, Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis.

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

K. Voskarides, A. Pierides, C. Deltas, 2008, Connective tissue research.

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

H. Hennies, F. Hildebrandt, M. Attanasio, 2006, Human Genetics.

Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.

A. Pierides, C. Deltas, A. Eleftheriou, 1998, Human molecular genetics.

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

K. Voskarides, A. Pierides, C. Deltas, 2008, Genetic testing.

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.

A. Pierides, P. Koupepidou, C. Deltas, 1999, Human molecular genetics.