Read more about the article EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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 Blood pressure reference values for European non-overweight school children: the IDEFICS study.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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…

Continue ReadingBlood pressure reference values for European non-overweight school children: the IDEFICS study.
Read more about the article Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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…

Continue ReadingStem cells in neuroinjury and neurodegenerative disorders: challenges and future neurotherapeutic prospects.
Read more about the article A systematic review of factors that act as barriers to patient referral to genetic services.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
Read more about the article Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.

Abstract

Continue ReadingSpectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.