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Digenic inheritance and genetic modifiers

Clinical genetics, 2018-03, Vol.93 (3), p.429-438

Deltas, C.

2018

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

Hippokratia, 2010-01, Vol.14 (4), p.236-240

2010

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

Clinical genetics, 2017-11, Vol.92 (5), p.517-527

2017

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

Nephrology, dialysis, transplantation, 2014-09, Vol.29 Suppl 4 (suppl 4), p.iv124-iv130

2014

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

Clinical genetics, 2012-03, Vol.81 (3), p.240-248

2012

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WCN23-1243 Holistic approach in search for genetic modifiers in thin basement membrane nephropathy

Kidney international reports, 2023-03, Vol.8 (3), p.S250-S250

Deltas, C.

2023

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

Science (American Association for the Advancement of Science), 1996-05, Vol.272 (5266), p.1339-1342

1996

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Germinal and Somatic Mutations in the PKD2 Gene of Renal Cysts in Autosomal Dominant Polycystic Kidney Disease

Human molecular genetics, 1999-03, Vol.8 (3), p.509-513

1999

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POS-435 NEXT GENERATION SEQUENCING IDENTIFIES CANDIDATE GENETIC MODIFIERS POTENTIALLY EXACERBATING KIDNEY DISEASE IN COL4A3/A4 HETEROZYGOUS PATIENTS

Kidney international reports, 2022-02, Vol.7 (2), p.S194-S194

Deltas, C.

2022

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

Human molecular genetics, 2000-02, Vol.9 (3), p.447-452

2000

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Mutations of the human polycystic kidney disease 2 (PKD2) gene

Human mutation, 2001-07, Vol.18 (1), p.13-24

Deltas, C. Constantinou

2001

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Chromosome 1 Localization of a Gene for Autosomal Dominant Medullary Cystic Kidney Disease (ADMCKD)

Human molecular genetics, 1998-05, Vol.7 (5), p.905-911

1998

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Neuroprotective effects of EPA and DHA fatty acids in the DBA/2J hereditary glaucoma mouse model

Acta ophthalmologica (Oxford, England), 2016-10, Vol.94 (S256), p.n/a

2016

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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

Hippokratia, 2013-01, Vol.17 (3), p.207-213

2013

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

Clinical genetics, 2012-09, Vol.82 (3), p.297-299

2012

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Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis

Human genetics, 2000-08, Vol.107 (2), p.115-126

2000

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

Annals of the rheumatic diseases, 2004-04, Vol.63 (4), p.438-443

2004

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Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

Clinical genetics, 2006-02, Vol.69 (2), p.135-144

2006

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

Human genetics, 2006-07, Vol.119 (6), p.649-658

2006

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

Journal of the American Society of Nephrology, 2018-09, Vol.29 (9), p.2418-2431

2018

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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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Genetic diseases and molecular genetics

Nephrology, dialysis, transplantation, 2013-05, Vol.28 (suppl 1), p.i309-i321

2013

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

Journal of endocrinological investigation, 2011-11, Vol.34 (10), p.764-769

2011

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Digenic inheritance and genetic modifiers

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

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

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

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

WCN23-1243 Holistic approach in search for genetic modifiers in thin basement membrane nephropathy

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

Germinal and Somatic Mutations in the PKD2 Gene of Renal Cysts in Autosomal Dominant Polycystic Kidney Disease

POS-435 NEXT GENERATION SEQUENCING IDENTIFIES CANDIDATE GENETIC MODIFIERS POTENTIALLY EXACERBATING KIDNEY DISEASE IN COL4A3/A4 HETEROZYGOUS PATIENTS

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

Mutations of the human polycystic kidney disease 2 (PKD2) gene

Chromosome 1 Localization of a Gene for Autosomal Dominant Medullary Cystic Kidney Disease (ADMCKD)

Neuroprotective effects of EPA and DHA fatty acids in the DBA/2J hereditary glaucoma mouse model

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

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

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis

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

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

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

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

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

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

Molecular genetics of familial hematuric diseases

Genetic diseases and molecular genetics

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

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