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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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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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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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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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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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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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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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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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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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Familial Mediterranean fever associated pyrin mutations in Greece

Annals of the rheumatic diseases, 2003-05, Vol.62 (5), p.479-481

2003

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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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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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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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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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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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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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The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failure

International angiology, 2005-09, Vol.24 (3), p.287

2005

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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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Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region

Genomics (San Diego, Calif.), 2001-03, Vol.72 (3), p.278-284

2001

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

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

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

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

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

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

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

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

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

Familial Mediterranean fever associated pyrin mutations in Greece

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

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

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

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

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

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

The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failure

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

Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region

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

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