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…

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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…

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Read more about the article Blood pressure reference values for European non-overweight school children: the IDEFICS study.
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Blood pressure reference values for European non-overweight school children: the IDEFICS study.

Abstract To provide oscillometric blood pressure (BP) reference values in European non-overweight school children. Cross-sectional analysis from the IDEFICS study (www.ideficsstudy.eu) database. Standardised BP and anthropometric measures were obtained from…

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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 Reference values for leptin and adiponectin in children below the age of 10 based on the IDEFICS cohort.
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Reference values for leptin and adiponectin in children below the age of 10 based on the IDEFICS cohort.

Abstract To establish age- and sex-specific reference values for serum leptin and adiponectin in normal-weight 3.0-8.9-year old European children. Blood samples for hormone analysis were taken from 1338 children of…

Continue ReadingReference values for leptin and adiponectin in children below the age of 10 based on the IDEFICS cohort.
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 Percentile reference values for anthropometric body composition indices in European children from the IDEFICS study.
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Percentile reference values for anthropometric body composition indices in European children from the IDEFICS study.

Abstract To characterise the nutritional status in children with obesity or wasting conditions, European anthropometric reference values for body composition measures beyond the body mass index (BMI) are needed. Differentiated…

Continue ReadingPercentile reference values for anthropometric body composition indices in European children from the IDEFICS study.
Read more about the article Stem cells in neuroinjury and neurodegenerative disorders: challenges and future neurotherapeutic prospects.
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Stem cells in neuroinjury and neurodegenerative disorders: challenges and future neurotherapeutic prospects.

Abstract The prevalence of neurodegenerative diseases and neural injury disorders is increasing worldwide. Research is now focusing on improving current neurogenesis techniques including neural stem cell therapy and other biochemical…

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Read more about the article A systematic review of factors that act as barriers to patient referral to genetic services.
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A systematic review of factors that act as barriers to patient referral to genetic services.

Abstract Patients who might benefit from genetic services may be denied access through failure to be referred. To investigate the evidence on barriers to referral to genetic services, we conducted…

Continue ReadingA systematic review of factors that act as barriers to patient referral to genetic services.