Read more about the article Esterases A5-B5 in organophosphate-resistant Culex pipiens from Italy.
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Esterases A5-B5 in organophosphate-resistant Culex pipiens from Italy.

Abstract Culex pipiens mosquitos from Lignano city, Udine province, northeast Italy, were found to carry over-produced non-specific esterases A1, A2-B2 and A4-B4 or A5-B5, detected by starch gel electrophoresis, giving…

Continue ReadingEsterases A5-B5 in organophosphate-resistant Culex pipiens from Italy.
Read more about the article Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.
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Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.

Abstract Familial infantile myasthenia is an autosomal recessive disorder, recently classified as congenital myasthenic syndrome type Ia. Onset of symptoms is at birth to early childhood with significant myasthenic weakness…

Continue ReadingMapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.
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.
Read more about the article Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.
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Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.

Abstract 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,…

Continue ReadingChromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.
Read more about the article Rare beta-thalassemia alleles in the Greek and Greek Cypriot populations.
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Rare beta-thalassemia alleles in the Greek and Greek Cypriot populations.

Abstract

Continue ReadingRare beta-thalassemia alleles in the Greek and Greek Cypriot populations.