Výsledky vyhledávání - "Vassiliki Georgiou"

Clinical diagnostic Next-Generation sequencing: The case of CFTR carrier screening

Autor: Yannis Dotsikas, Yannis L. Loukas, Kleopatra H. Schulpis, Vassiliki Georgiou, Elina Molou, Georgia Thodi

Publikováno v: Scandinavian Journal of Clinical and Laboratory Investigation. 75:374-381

A 23-mutation panel for CFTR carrier screening is recommended to women of reproductive age by the American College of Obstetricians and Gynecologists. In the present study the optimized efficiency regarding the carrier rate of Next-Generation sequenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffc55a7936ffd32121c9b19bfcbf6428
https://doi.org/10.3109/00365513.2015.1031689

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Early screening of FTO and MC4R variants in newborns of Greek origin

Autor: Yannis L. Loukas, Georgia Thodi, Elina Molou, Yannis Dotsikas, Christos Birbilis, Vassiliki Georgiou, Kleopatra H. Schulpis

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 28:619-622

Background: Variants of fat mass and obesity associated gene (FTO) and melanocortin-4 receptor gene (MC4R) are related to obesity, overweight and type 2 diabetes. Objectives: To examine the presence of FTO and MC4R variants in Greek newborns. Subject

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ad26a2f9c569dcf1c37916d22781b31
https://doi.org/10.1515/jpem-2014-0320

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Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: The Mediterranean C563T mutation screening

Autor: Yannis L. Loukas, Yannis Dotsikas, Konstantinos Papadopoulos, Kleopatra H. Schulpis, Elina Molou, Vassiliki Georgiou, Sofia Biti, Georgia Thodi

Publikováno v: Scandinavian Journal of Clinical and Laboratory Investigation. 74:259-263

Glucose-6-Phosphate Dehydrogenase (G6PD) gene is located at the X-chromosome at Xq28 and the disease is recessively inherited predominantly in males. More than 400 variants have been proposed based on clinical and enzymatic studies. The aim of the cu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a3616d030d5e99af3073540ad77d8cf
https://doi.org/10.3109/00365513.2013.879733

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Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant

Autor: Yannis L. Loukas, Elina Molou, Vassiliki Georgiou, Emmanuel Doulgerakis, Yannis Dotsikas, Konstantinos Papadopoulos, Sofia Biti, Georgia Thodi

Publikováno v: Clinical Biochemistry. 45:1167-1172

Objectives The purpose of the current study was to screen newborns in Greece and to identify the responsible mutations for Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). Design and methods 47.812 neonates were screened for the potential pres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417f6e0ecc7629c0f134394201ddc191
https://doi.org/10.1016/j.clinbiochem.2012.05.030

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Mutational analysis for biotinidase deficiency of a Greek patients’ cohort ascertained through expanded newborn screening

Autor: Yannis L. Loukas, Emmanuel Doulgerakis, Vassiliki Georgiou, Dimitris Konstantinou, Elina Molou, Yannis Dotsikas, Konstantinos Papadopoulos, Marina Antoniadi, Georgia Thodi, Sofia Biti

Publikováno v: Journal of Human Genetics. 56:861-865

Late-onset multiple carboxylase deficiency, also known as biotinidase (BTD) deficiency, is an autosomal recessively inherited disorder of biotin metabolism. Its early diagnosis and treatment seems that it can even fully prevent its various clinical m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7023ad72e966cf110678b25818c535b8
https://doi.org/10.1038/jhg.2011.119

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Expanded newborn screening in Greece: 30 months of experience

Autor: Yannis L. Loukas, Sofia Biti, Elina Molou, Vassiliki Georgiou, Konstantinos Papadopoulos, Maria Boutsini, Georgia Thodi, Yannis Dotsikas, Georgios-Stefanos Soumelas

Publikováno v: Journal of Inherited Metabolic Disease. 33:341-348

In Greece, the National Newborn Screening Program was initiated in 1974 and is performed by the Institute of Child Health (ICH). However, there is a complete absence of conditions that have high rates of mortality and a relatively high prevalence lis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a167cd4548095682c708064a10bcf76
https://doi.org/10.1007/s10545-010-9181-8

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Rhinovirus-induced basic fibroblast growth factor release mediates airway remodeling features

Autor: Dimitris Kletsas, Eleni Volonaki, Vassiliki Georgiou, Harris Pratsinis, Mina Gaga, Stelios Psarras, Chrysanthi Skevaki, Dimitrios Gourgiotis, Nikolaos G. Papadopoulos, Irini Spyridaki, Sebastian L. Johnston, Aurica G. Telcian, Paraskevi Maggina, Stylianos Vittorakis

Publikováno v: Clinical and Translational Allergy
Clinical and Translational Allergy, Vol 2, Iss 1, p 14 (2012)

Background Human rhinoviruses, major precipitants of asthma exacerbations, induce lower airway inflammation and mediate angiogenesis. The purpose of this study was to assess the possibility that rhinoviruses may also contribute to the fibrotic compon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5da97b3a254084a7e710b3af86added5
https://pubmed.ncbi.nlm.nih.gov/22908984

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The association between pandemic influenza A (H1N1) public perceptions and reactions: a prospective study

Autor: Aspasia Bati, Stella Sofokleous, Vassiliki Karkania, Vassiliki Georgiou, Evangelos C. Karademas

Publikováno v: Journal of health psychology. 18(3)

The aim of this study was to examine the relation between the public perceptions and reactions to the pandemic influenza A(H1N1) in Crete, Greece. It was conducted in two phases: at the early phase of the outbreak and during the peak. The Common Sens

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bfccb96be39870f3e5cb6094697f80b
https://pubmed.ncbi.nlm.nih.gov/22569810

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