Read more about the article Food and beverage intakes according to physical activity levels in European children: the IDEFICS (Identification and prevention of Dietary and lifestyle induced health EFfects In Children and infantS) study.
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Food and beverage intakes according to physical activity levels in European children: the IDEFICS (Identification and prevention of Dietary and lifestyle induced health EFfects In Children and infantS) study.

Abstract Physical activity (PA) levels and dietary habits are considered some of the most important factors associated with obesity. The present study aimed to examine the association between PA level…

Continue ReadingFood and beverage intakes according to physical activity levels in European children: the IDEFICS (Identification and prevention of Dietary and lifestyle induced health EFfects In Children and infantS) study.
Read more about the article An electroglottographical analysis-based discriminant function model differentiating multiple sclerosis patients from healthy controls.
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An electroglottographical analysis-based discriminant function model differentiating multiple sclerosis patients from healthy controls.

Abstract Dysarthrophonia is a predominant symptom in many neurological diseases, affecting the quality of life of the patients. In this study, we produced a discriminant function equation that can differentiate…

Continue ReadingAn electroglottographical analysis-based discriminant function model differentiating multiple sclerosis patients from healthy controls.
Read more about the article Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
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Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.

Abstract The present study investigated the clinical and mutational spectrum of aniridia in a cohort of 17 affected individuals from six families from Cyprus. Each proband was initially evaluated for copy…

Continue ReadingMolecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
Read more about the article COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
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COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Abstract About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the…

Continue ReadingCOL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
Read more about the article Neurotransmitter receptor genotypes associated with mental and behavioral disorders.
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Neurotransmitter receptor genotypes associated with mental and behavioral disorders.

Abstract Investigation of association studies within the field of mental and behavioral disorders is of value given their complex molecular etiology including epistatic interactions of multiple genes with small effects.…

Continue ReadingNeurotransmitter receptor genotypes associated with mental and behavioral disorders.
Read more about the article A 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.
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A 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.

Abstract

Continue ReadingA 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.
Read more about the article Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
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Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.

Abstract Marfan syndrome (MFS) is a multi-systemic autosomal dominant condition caused by mutations in the gene (FBN1) coding for fibrillin-1. Mutations have been associated with a wide range of overlapping…

Continue ReadingIdentification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
Read more about the article Short-hairpin RNA against aberrant HBB[IVSI-110(G>A)] mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.
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Short-hairpin RNA against aberrant HBB[IVSI-110(G>A)] mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.

Abstract

Continue ReadingShort-hairpin RNA against aberrant HBB[IVSI-110(G>A)] mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.
Read more about the article Terc is dispensable for most of the short-term HPV16 oncogene-mediated phenotypes in mice.
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Terc is dispensable for most of the short-term HPV16 oncogene-mediated phenotypes in mice.

Abstract High-risk human papillomaviruses (HPVs) have been shown in vitro to impinge on telomere homeostasis in a number of ways. However, the in vivo interaction of viruses with the telomere…

Continue ReadingTerc is dispensable for most of the short-term HPV16 oncogene-mediated phenotypes in mice.
Read more about the article Positioning Europe for the EPITRANSCRIPTOMICS challenge.
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Positioning Europe for the EPITRANSCRIPTOMICS challenge.

Abstract The genetic alphabet consists of the four letters: C, A, G, and T in DNA and C,A,G, and U in RNA. Triplets of these four letters jointly encode 20…

Continue ReadingPositioning Europe for the EPITRANSCRIPTOMICS challenge.