Read more about the article Effects of transmission of Y chromosome AZFc deletions.
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Effects of transmission of Y chromosome AZFc deletions.

Abstract Deletions of specific regions on the Y chromosome cause male infertility. Recent advances in infertility treatment allow Y chromosome deletions to be transmitted to male offspring with the assumption…

Continue ReadingEffects of transmission of Y chromosome AZFc deletions.
Read more about the article Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.
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Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.

Abstract 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, NPHP2 and NPHP3…

Continue ReadingAutosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.
Read more about the article Correlation between morphology, immunohistochemistry and molecular pathology in hereditary and sporadic breast cancer cases.
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Correlation between morphology, immunohistochemistry and molecular pathology in hereditary and sporadic breast cancer cases.

Abstract Breast cancer still represents a serious health problem and is currently the most frequent malignancy in the female population in developed countries. In Cyprus, there are 300 new cases…

Continue ReadingCorrelation between morphology, immunohistochemistry and molecular pathology in hereditary and sporadic breast cancer cases.
Read more about the article Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus.
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Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus.

Abstract Familial Mediterranean Fever (FMF) is an autosomal recessive disease of high prevalence within Mediterranean countries and particularly common in four ethnic populations: Arabs, non-Ashkenazi Jews, Armenians, and Turks. The…

Continue ReadingFamilial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus.
Read more about the article Amyloid myopathy: evidence for mechanical injury to the sarcolemma.
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Amyloid myopathy: evidence for mechanical injury to the sarcolemma.

Abstract Myopathy is a rare clinical manifestation in primary systemic amyloidosis. The clinical phenotype and muscle histology are well described but the pathophysiological mechanisms remain poorly understood. We report a…

Continue ReadingAmyloid myopathy: evidence for mechanical injury to the sarcolemma.
Read more about the article ITS 2 sequences heterogeneity in Phlebotomus sergenti and Phlebotomus similis (Diptera, Psychodidae): possible consequences in their ability to transmit Leishmania tropica.
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ITS 2 sequences heterogeneity in Phlebotomus sergenti and Phlebotomus similis (Diptera, Psychodidae): possible consequences in their ability to transmit Leishmania tropica.

Abstract An intraspecific study on Phlebotomus sergenti, the main and only proven vector of Leishmania tropica among the members of the subgenus Paraphlebotomus was performed. The internal transcribed spacer 2…

Continue ReadingITS 2 sequences heterogeneity in Phlebotomus sergenti and Phlebotomus similis (Diptera, Psychodidae): possible consequences in their ability to transmit Leishmania tropica.
Read more about the article A family with the branchio-oto-renal syndrome: clinical and genetic correlations.
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A family with the branchio-oto-renal syndrome: clinical and genetic correlations.

Abstract 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…

Continue ReadingA family with the branchio-oto-renal syndrome: clinical and genetic correlations.
Read more about the article Molecular characterization of G6PD deficiency in Cyprus.
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Molecular characterization of G6PD deficiency in Cyprus.

Abstract In the present study, we determined the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Cyprus using two different procedures in two separate adult population groups: a semiquantitative fluorescence test…

Continue ReadingMolecular characterization of G6PD deficiency in Cyprus.
Read more about the article A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
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A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

Abstract We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the…

Continue ReadingA novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
Read more about the article Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.
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Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.

Abstract The entire coding regions of the two breast cancer susceptibility genes BRCA1 and BRCA2 from breast cancer patients from 40 Cypriot families with multiple cases of breast and ovarian…

Continue ReadingHereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.