Read more about the article A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.
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A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.

Abstract Primary lateral sclerosis (PLS) is a rare neurodegenerative disease that affects the upper motor neurons of the CNS. Juvenile-onset PLS (JPLS) is inherited in an autosomal recessive mode and…

Continue ReadingA novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.
Read more about the article A new neurogenic vestibular evoked potential (N6) recorded with the use of air-conducted sound.
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A new neurogenic vestibular evoked potential (N6) recorded with the use of air-conducted sound.

Abstract Neurogenic vestibular evoked potentials that are recorded from the scalp have so far been recorded in the form of N3 (click air-conducted), N5 (tone air-conducted), and P10 (bone-conducted stimulus)…

Continue ReadingA new neurogenic vestibular evoked potential (N6) recorded with the use of air-conducted sound.
Read more about the article Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
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Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.

Abstract The purpose of this study was to identify and determine the frequencies of rare CYP21A2 gene mutations in patients with 21-hydroxylase deficiency (21-OHD) in the Cypriot population. Direct sequencing…

Continue ReadingRare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
Read more about the article PrP gene polymorphisms in Cyprus goats and their association with resistance or susceptibility to natural scrapie.
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PrP gene polymorphisms in Cyprus goats and their association with resistance or susceptibility to natural scrapie.

Abstract In contrast to scrapie in sheep, the genetic basis of susceptibility to scrapie in goats is not well understood. To study the association of prion protein (PrP) alleles with…

Continue ReadingPrP gene polymorphisms in Cyprus goats and their association with resistance or susceptibility to natural scrapie.
Read more about the article Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.
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Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.

Abstract Familial amyloidotic polyneuropathy (FAP) TTR Val30Met is a lethal autosomal dominant sensorimotor and autonomic neuropathy due to a substitution of methionine for valine at position 30 of the transthyretin…

Continue ReadingComplement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.
Read more about the article Discovering genetic polymorphism associated with gene expression levels across the whole genome.
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Discovering genetic polymorphism associated with gene expression levels across the whole genome.

Abstract Genetic differences have been shown to contribute to gene expression variability. A complete evaluation of the associations between a whole genome scan with 550k Single Nucleotide Polymorphisms (SNPs) and…

Continue ReadingDiscovering genetic polymorphism associated with gene expression levels across the whole genome.
Read more about the article A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
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A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.

Abstract Mutations in IFNGR1, IFNGR2, IL12RB1, IL12B, STAT1 and NEMO result in a common clinical phenotype known as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency is…

Continue ReadingA 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
Read more about the article Assessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and beta-thalassemia.
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Assessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and beta-thalassemia.

Abstract The objective of this study was to identify factors involved in the success of 2 well-established population-based carrier screening programs - Tay-Sachs disease (TSD) in Ashkenazi Jews and beta-thalassemia…

Continue ReadingAssessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and beta-thalassemia.
Read more about the article A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.
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A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.

Abstract Recent studies and advances in high-density oligonucleotide arrays have shown that microdeletions and microduplications occur at a high frequency in the human genome, causing various genetic conditions including mental…

Continue ReadingA new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.
Read more about the article High frequency of Friedreich’s ataxia carriers in the Paphos district of Cyprus.
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High frequency of Friedreich’s ataxia carriers in the Paphos district of Cyprus.

Abstract A cluster of Friedreich's ataxia patients has been previously investigated in two neighbouring villages of the Paphos district of Cyprus. Molecular genetic studies revealed that all patients had the…

Continue ReadingHigh frequency of Friedreich’s ataxia carriers in the Paphos district of Cyprus.