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

Nephrology, dialysis, transplantation, 2003-10, Vol.18 (10), p.2165-2169

2003

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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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Discovery of old diseases: the molecular approach

European journal of human genetics : EJHG, 2003-01, Vol.11 (1), p.3-4

Deltas, C Constantinou

2003

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Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1

Human genetics, 1998-12, Vol.103 (6), p.709-717

1998

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

Clinical and applied thrombosis/hemostasis, 2000-04, Vol.6 (2), p.104-107

2000

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Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus

Genetic testing, 2002, Vol.6 (1), p.15-21

2002

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Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

Human genetics, 1996-10, Vol.98 (4), p.437-442

1996

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Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families

European journal of human genetics : EJHG, 2001-09, Vol.9 (9), p.677-684

2001

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A Translation Frameshift Mutation Induced by a Cytosine Insertion in the Polycystic Kidney Disease 2 Gene (PKD2)

Human molecular genetics, 1997-06, Vol.6 (6), p.949-952

1997

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Autosomal dominant medullary cystic kidney disease : evidence of gene locus heterogeneity

Nephrology, dialysis, transplantation, 1998-08, Vol.13 (8), p.1955-1957

1998

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Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1

Molecular and cellular probes, 2001-12, Vol.15 (6), p.357-361

2001

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Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1-and PKD2-linked markers in Cypriot families

Clinical genetics, 1996-07, Vol.50 (1), p.10-18

1996

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New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene : evolution of alleles

Human genetics, 1997-05, Vol.99 (5), p.644-647

1997

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Clinical Aspects of Cystinuria

Contributions to nephrology, 1997-01, Vol.122, p.167-172

1997

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

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

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

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

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

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

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

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis

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

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

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

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

Discovery of old diseases: the molecular approach

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1

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

Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families

A Translation Frameshift Mutation Induced by a Cytosine Insertion in the Polycystic Kidney Disease 2 Gene (PKD2)

Autosomal dominant medullary cystic kidney disease : evidence of gene locus heterogeneity

Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1

Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1-and PKD2-linked markers in Cypriot families

New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene : evolution of alleles

Clinical Aspects of Cystinuria

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