Read more about the article Weak evidence for allelic association in the cypriot PKD1 population.
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Weak evidence for allelic association in the cypriot PKD1 population.

Abstract

Continue ReadingWeak evidence for allelic association in the cypriot PKD1 population.
Read more about the article Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.
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Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.

Abstract Cyprus is an island in the eastern Mediterranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although…

Continue ReadingNovel cystic fibrosis mutation associated with mild disease in Cypriot patients.
Read more about the article Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.
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Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.

Abstract 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…

Continue ReadingPresymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.
Read more about the article Genetics-based machine learning for the assessment of certain neuromuscular disorders.
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Genetics-based machine learning for the assessment of certain neuromuscular disorders.

Abstract Clinical electromyography (EMG) provides useful information for the diagnosis of neuromuscular disorders. The utility of artificial neural networks (ANN's) in classifying EMG data trained with backpropagation or Rohonen's self-organizing…

Continue ReadingGenetics-based machine learning for the assessment of certain neuromuscular disorders.
Read more about the article The distribution of the ABO and Rhesus blood groups (phenotype and allele frequencies) in the populations of Cyprus.
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The distribution of the ABO and Rhesus blood groups (phenotype and allele frequencies) in the populations of Cyprus.

Abstract The distribution of ABO and Rhesus blood groups in the populations of Cyprus have been studied in 47,759 individuals (about 8% of the Greek-Cypriot population). The data were classified…

Continue ReadingThe distribution of the ABO and Rhesus blood groups (phenotype and allele frequencies) in the populations of Cyprus.
Read more about the article New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.
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New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.

Abstract The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized…

Continue ReadingNew amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.
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 Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.
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Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.

Abstract DNA and FISH (fluorescence in situ hybridization) analysis were carried out in 12 patients with stigmata of Turner syndrome to determine whether the Supernumerary Marker Chromosome (SMC) found cytogenetically…

Continue ReadingSupernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.