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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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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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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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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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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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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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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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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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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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Mutation analysis of coding sequences for type I procollagen in individuals with low bone density

Journal of bone and mineral research, 1994-06, Vol.9 (6), p.923-932

1994

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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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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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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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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

Nature genetics, 1993-12, Vol.5 (4), p.359-362

1993

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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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Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families

Human genetics, 1995-04, Vol.95 (4), p.416-423

1995

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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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Novel cystic fibrosis mutation associated with mild disease in Cypriot patients

Human genetics, 1994-05, Vol.93 (5), p.529-532

1994

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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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ΔF508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus

Human mutation, 1992, Vol.1 (6), p.503-505

1992

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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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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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Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families

Human mutation, 2000-08, Vol.16 (2), p.176-176

2000

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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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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

Genetic testing, 2004, Vol.8 (3), p.319-324

2004

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

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

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

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

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

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis

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

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

Discovery of old diseases: the molecular approach

Mutation analysis of coding sequences for type I procollagen in individuals with low bone density

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

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

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

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

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

Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families

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

Novel cystic fibrosis mutation associated with mild disease in Cypriot patients

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

ΔF508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus

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

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

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families

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

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

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