Read more about the article Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
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Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.

Abstract Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for approximately 85% of cases whereas PKD2 on chromosome…

Continue ReadingGerminal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
Read more about the article Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
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Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.

Abstract Loss of heterozygosity (LOH) is a molecular phenomenon that denotes the loss of one of the two alleles at a specific locus. It is frequently associated with tumour suppressor…

Continue ReadingLoss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
Read more about the article An isolate of human immunodeficiency virus type 1 originally classified as subtype I represents a complex mosaic comprising three different group M subtypes (A, G, and I).
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An isolate of human immunodeficiency virus type 1 originally classified as subtype I represents a complex mosaic comprising three different group M subtypes (A, G, and I).

Abstract Full-length reference clones and sequences are currently available for eight human immunodeficiency virus type 1 (HIV-1) group M subtypes (A through H), but none have been reported for subtypes…

Continue ReadingAn isolate of human immunodeficiency virus type 1 originally classified as subtype I represents a complex mosaic comprising three different group M subtypes (A, G, and I).
Read more about the article Geneticization: the Cyprus paradigm.
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Geneticization: the Cyprus paradigm.

Abstract Geneticization is a broad term referring to several related processes such as a spreading tendency to use a genetic model of disease explanation, a growing influence of genetics in…

Continue ReadingGeneticization: the Cyprus paradigm.
Read more about the article Genetic screening and ethics: European perspectives.
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Genetic screening and ethics: European perspectives.

Abstract Analysis and comparison of genetic screening programs shows that the extent of development of programs varies widely across Europe. Regional variations are due not only to genetic disease patterns…

Continue ReadingGenetic screening and ethics: European perspectives.
Read more about the article Global epidemiology of hemoglobin disorders.
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Global epidemiology of hemoglobin disorders.

Abstract Thalassemias and the hemoglobinopathies such as Hemoglobins S, C and E, are now a global problem. They have spread through migration from their native areas in the Mediterranean, Africa…

Continue ReadingGlobal epidemiology of hemoglobin disorders.
Read more about the article Congenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity.
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Congenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity.

Abstract

Continue ReadingCongenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity.
Read more about the article Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.
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Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.

Abstract The presence of Y chromosome sequences in Turner syndrome (TS) patients may predispose them to gonadoblastoma formation with an estimated risk of 15-25%. The aim of this study was…

Continue ReadingDetection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.
Read more about the article Greek Cypriot allele and genotype frequencies for Amplitype PM-DQA1 and D1S80 loci.
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Greek Cypriot allele and genotype frequencies for Amplitype PM-DQA1 and D1S80 loci.

Abstract A sample from the Greek Cypriot population was typed at seven forensically important PCR-based loci: LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, and D1S80. The results showed that all loci…

Continue ReadingGreek Cypriot allele and genotype frequencies for Amplitype PM-DQA1 and D1S80 loci.
Read more about the article Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1.
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Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1.

Abstract 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…

Continue ReadingMedullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1.