Read more about the article Arterial tortuosity syndrome: 40 new families and literature review.
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Arterial tortuosity syndrome: 40 new families and literature review.

Abstract PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused…

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Read more about the article Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium.
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Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium.

Abstract Polygenic risk scores (PRS) for breast cancer can be used to stratify the population into groups at substantially different levels of risk. Combining PRS and environmental risk factors will…

Continue ReadingJoint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium.
Read more about the article MicroRNAs as possible biomarkers for screening of aortic aneurysms: a systematic review and validation study.
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MicroRNAs as possible biomarkers for screening of aortic aneurysms: a systematic review and validation study.

Abstract There is an urgent need to identify non-invasive biomarkers for the early detection of aortic aneurysms, preceding a fatal event. The potential role for MicroRNAs (miRNAs) as diagnostic markers…

Continue ReadingMicroRNAs as possible biomarkers for screening of aortic aneurysms: a systematic review and validation study.
Read more about the article GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype.
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GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype.

Abstract This case report describes a 47,XXX girl who presented very early, at the age of 14 months, with signs of sexual precocity (breast and pubic hair development, menarche) and…

Continue ReadingGnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype.
Read more about the article Epigenetic Changes in the CRH Gene are Related to Severity of Suicide Attempt and a General Psychiatric Risk Score in Adolescents.
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Epigenetic Changes in the CRH Gene are Related to Severity of Suicide Attempt and a General Psychiatric Risk Score in Adolescents.

Abstract The aim of this study, comprising 88 suicide attempters, was to identify hypothalamic-pituitary-adrenal (HPA) -axis coupled CpG-sites showing methylation shifts linked to severity of the suicide attempt. Candidate methylation…

Continue ReadingEpigenetic Changes in the CRH Gene are Related to Severity of Suicide Attempt and a General Psychiatric Risk Score in Adolescents.
Read more about the article Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Abstract Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from…

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Read more about the article Paediatric departments need to improve residents’ training in adolescent medicine and health: a position paper of the European Academy of Paediatrics.
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Paediatric departments need to improve residents’ training in adolescent medicine and health: a position paper of the European Academy of Paediatrics.

Abstract In many European countries, paediatric junior staff has no formal training in adolescent medicine and is ill-equipped to deal with issues and health problems such as substance use, unprotected…

Continue ReadingPaediatric departments need to improve residents’ training in adolescent medicine and health: a position paper of the European Academy of Paediatrics.
Read more about the article The Association Between APOA5 Gene Polymorphisms and Plasma Lipids in the Turkish Cypriot Population: A Possible Biomarker for Preventing Cardiovascular Diseases.
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The Association Between APOA5 Gene Polymorphisms and Plasma Lipids in the Turkish Cypriot Population: A Possible Biomarker for Preventing Cardiovascular Diseases.

Abstract Apolipoprotein A5 (APOA5 or APO A-V) polymorphisms have long been reported to be associated with cardiovascular disease and plasma lipid levels. The present study was undertaken to investigate the…

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Read more about the article – a novel candidate breast cancer susceptibility locus on 6q14.1.
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– a novel candidate breast cancer susceptibility locus on 6q14.1.

Abstract Most non- breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on…

Continue Reading– a novel candidate breast cancer susceptibility locus on 6q14.1.
Read more about the article Omega-3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model.
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Omega-3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model.

Abstract The purpose of this study was to evaluate the neuroprotective effects of omega-3 polyunsaturated fatty acid (ω3-PUFA) supplementation, alone or in combination with timolol eye drops, in a mouse…

Continue ReadingOmega-3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model.