Search Results - "Fanis, P"
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Oxidative stress in β-thalassaemia and sickle cell disease
Published in Redox biology (01-12-2015)“…Sickle cell disease and β-thalassaemia are inherited haemoglobinopathies resulting in structural and quantitative changes in the β-globin chain. These changes…”
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Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect
Published in Journal of endocrinological investigation (01-10-2018)“…Purpose Multiple endocrine neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refers to patients who were diagnosed…”
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Phenotype variability and different genotype of four patients with thyroid hormone resistance syndrome due to variants in the THRB gene
Published in Hippokratia (01-01-2019)“…Background: Resistance to thyroid hormone (RTH) is a rare dominantly inherited disorder mainly due to variants in the THRB gene leading to decreased end-organ…”
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P025 Prevalence and clinical implications of the p.Cys1400Ter pathogenic CFTR mutation in Cyprus
Published in Journal of cystic fibrosis (01-06-2023)Get full text
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WS03.4 Notable cystic fibrosis cases of Greek-Cypriot originwith rare or unique CFTR genotypes
Published in Journal of cystic fibrosis (2021)Get full text
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P037 Cystic fibrosis in Cyprus: results from the national patients’ Registry
Published in Journal of cystic fibrosis (01-06-2020)Get full text
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The DNA binding factor Hmg20b is a repressor of erythroid differentiation
Published in Haematologica (Roma) (01-09-2011)“…In erythroblasts, the CoREST repressor complex is recruited to target promoters by the transcription factor Gfi1b, leading to repression of genes mainly…”
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Phenotype variability and different genotype of four patients with thyroid hormone resistance syndrome due to variants in the THRB gene
Published in Hippokratia (01-07-2019)“…BACKGROUND Resistance to thyroid hormone (RTH) is a rare dominantly inherited disorder mainly due to variants in the THRB gene leading to decreased end-organ…”
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