Search Results - "Hadjipanagi, Despina"
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COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
Published in BMC nephrology (16-05-2018)“…About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in…”
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Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife
Published in Kidney international (01-06-2021)“…A study of 269 children enrolled into a National Registry for children with persistent glomerular hematuria identified 131 individuals with genetically…”
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Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population
Published in BMC research notes (05-03-2014)“…Two variants in the gene encoding the cytochrome P450 2C9 enzyme (CYP2C9) are considered the most significant genetic risk factors associated with bleeding…”
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Evidence for contribution of the y chromosome in atherosclerotic plaque occurrence in men
Published in Genetic testing and molecular biomarkers (01-08-2014)“…Diseases such as atherosclerosis and coronary artery disease demonstrate disparate population prevalence or present with variable severity in men and women…”
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Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece
Published in Genes (24-11-2022)“…Alport syndrome (AS) is the most frequent monogenic inherited glomerulopathy and is also genetically and clinically heterogeneous. It is caused by…”
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Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements
Published in Investigative genetics (11-02-2016)“…The archeological record indicates that the permanent settlement of Cyprus began with pioneering agriculturalists circa 11,000 years before present, (ca…”
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