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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Dept. of Molecular Genetics Thalassemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. Abstract

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. Abstract Classic galactosaemia is an inherited metabolic disorder of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) resulting from mutations in the GALT gene. The objectives of the present study were the determination of the carrier frequency […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus. adamos@paidiatros.com. Abstract Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy caused by mutations in the gene. A female and a male sibling from two unrelated Greek-Cypriot families presenting with a severe salt-wasting tubulopathy […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, 1683, Nicosia, Cyprus. Abstract Designer nucleases are versatile tools for genome modification and therapy development and have gained widespread accessibility with the advent of clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) technology. Prokaryotic RNA-guided nucleases […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Department of Molecular Genetics Thalassaemia, Cyprus School of Molecular Medicine and The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, 1683, Nicosia, Cyprus. Abstract Rare diseases pose a global challenge, in that their collective impact on health systems is considerable, whereas their individually rare occurrence impedes research and development of efficient […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Ophthalmology Clinic, General Hospital of Patras, Patras, Greece. Abstract To investigate how genotype is related to phenotype and document correlations of genotype-phenotype with response of topical administration of dorzolamide in siblings affected with X-linked juvenile retinoschisis (XLRS). We performed a retrospective study on two male siblings (four eyes) with XLRS, who were treated […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Neuroscience Laboratory and Neurology Clinics, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus. Abstract Charcot-Marie-Tooth disease type 4C is the most common recessively inherited demyelinating neuropathy that results from loss of function mutations in the SH3TC2 gene. Sh3tc2-/- mice represent a well characterized disease model developing […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Department of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus. Abstract We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on gene, with random X-chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity, X-chromosome inactivation, epigenetics and environment. […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Department of Nephrology and Transplantation, Nicosia General Hospital, Nicosia, Cyprus. Abstract Complement factor H-related protein 5 (CFHR5) nephropathy is an inherited renal disease characterized by microscopic and synpharyngitic macroscopic haematuria, C3 glomerulonephritis and renal failure. It is caused by an internal duplication of exons 2-3 within the CFHR5 gene resulting in dysregulation of […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Division of Basic Sciences, School of Medicine, University of Crete, Heraklion, Greece. Abstract The linguistic foundations of science and technology include many terms that have been borrowed from ancient languages. In the case of terms with origins in the Greek language, the modern meaning can often differ significantly from the original one. Here […]

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