Read more about the article IthaGenes: an interactive database for haemoglobin variations and epidemiology.
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IthaGenes: an interactive database for haemoglobin variations and epidemiology.

Abstract Inherited haemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. At present, we know several hundred disease-causing mutations on the globin gene clusters, in…

Continue ReadingIthaGenes: an interactive database for haemoglobin variations and epidemiology.
Read more about the article EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
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EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

Abstract Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that…

Continue ReadingEMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
Read more about the article FCGR polymorphisms and cetuximab efficacy in chemorefractory metastatic colorectal cancer: an international consortium study.
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FCGR polymorphisms and cetuximab efficacy in chemorefractory metastatic colorectal cancer: an international consortium study.

Abstract We aimed to better clarify the role of germline variants of the FCG2 receptor, FCGR2A-H131R and FCGR3A-V158F, on the therapeutic efficacy of cetuximab in metastatic colorectal cancer (mCRC). A…

Continue ReadingFCGR polymorphisms and cetuximab efficacy in chemorefractory metastatic colorectal cancer: an international consortium study.
Read more about the article Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.
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Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.

Abstract To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to investigate the causal role of alcohol in cardiovascular disease. Mendelian randomisation meta-analysis of…

Continue ReadingAssociation between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.
Read more about the article Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
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Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

Abstract The purpose of this study was to identify the mutations in the glutaryl-CoA dehydrogenase gene (GCDH) in ten Cypriot patients with Glutaric aciduria type I (GAI). Molecular analysis of…

Continue ReadingMolecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
Read more about the article Reference values of bone stiffness index and C-terminal telopeptide in healthy European children.
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Reference values of bone stiffness index and C-terminal telopeptide in healthy European children.

Abstract Quantitative ultrasound measurements and bone metabolic markers can help to monitor bone health and to detect impaired skeletal development. Population-based reference values for children may serve as a basis…

Continue ReadingReference values of bone stiffness index and C-terminal telopeptide in healthy European children.
Read more about the article Physical fitness reference standards in European children: the IDEFICS study.
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Physical fitness reference standards in European children: the IDEFICS study.

Abstract A low fitness status during childhood and adolescence is associated with important health-related outcomes, such as increased future risk for obesity and cardiovascular diseases, impaired skeletal health, reduced quality…

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Read more about the article Metabolic syndrome in young children: definitions and results of the IDEFICS study.
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Metabolic syndrome in young children: definitions and results of the IDEFICS study.

Abstract To estimate the prevalence of the metabolic syndrome (MetS) using reference standards obtained in European children and to develop a quantitative MetS score and describe its distribution in children.…

Continue ReadingMetabolic syndrome in young children: definitions and results of the IDEFICS study.
Read more about the article Percentiles of fasting serum insulin, glucose, HbA1c and HOMA-IR in pre-pubertal normal weight European children from the IDEFICS cohort.
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Percentiles of fasting serum insulin, glucose, HbA1c and HOMA-IR in pre-pubertal normal weight European children from the IDEFICS cohort.

Abstract The aim of this study is to present age- and sex-specific reference values of insulin, glucose, glycosylated haemoglobin (HbA1c) and the homeostasis model assessment to quantify insulin resistance (HOMA-IR)…

Continue ReadingPercentiles of fasting serum insulin, glucose, HbA1c and HOMA-IR in pre-pubertal normal weight European children from the IDEFICS cohort.
Read more about the article C-reactive protein reference percentiles among pre-adolescent children in Europe based on the IDEFICS study population.
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C-reactive protein reference percentiles among pre-adolescent children in Europe based on the IDEFICS study population.

Abstract C-reactive protein (CRP) is involved in a wide range of diseases. It is a powerful marker for inflammatory processes used for diagnostic and monitoring purposes. We aimed to establish…

Continue ReadingC-reactive protein reference percentiles among pre-adolescent children in Europe based on the IDEFICS study population.