Browsing by Subject "Linkage (Genetics)"
Now showing items 1-12 of 12
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Autosomal dominant polycystic kidney disease - Type 2. Ultrasound, genetic and clinical correlations
(2000)Background. Ultrasound, genetic and clinical correlations are available for ADPKD-1, but lacking for ADPKD-2. The present study was carried out to address: (i) the age-related diagnostic usefulness of ultrasound compared ...
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Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot familiesAAA
(2002)Background. Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, ...
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Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD)
(1998)There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease, ...
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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
(1993)Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. A gene defect located on the short arm of chromosome 16 is responsible for the disease in roughly 86% of affected European ...
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COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy
(2007)Mutations in the COL4A3/COL4A4 genes of type IV collagen have been found in ∼40% of cases of thin basement membrane nephropathy, which is characterized by microscopic hematuria and is classically thought to cause proteinuria ...
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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
(1996)Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of the gene, we started a search for ...
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A family with the branchio-oto-renal syndrome: Clinical and genetic correlations
(2002)Background. The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% ...
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Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families
(1995)Polycystic kidney disease is an inherited heterogeneous disorder that affects approximately 1:1000 Europeans. It is characterized mainly by the formation of cysts in the kidney that lead to end-stage renal failure with ...
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Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1
(1998)We describe a large Cypriot family with an interstitial type of nephropathy, inherited as an autosomal dominant trait that led to end stage renal failure between 51 to 78 years of age (mean 62.2 years). Twenty-three people ...
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Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families
(1996)Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. ...
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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
(2001)Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal failure. A gene locus (MCKD1) has been mapped on chromosome 1q21. ...
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