Read more about the article Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
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Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.

Abstract Array Comparative Genomic Hybridization analysis is replacing postnatal chromosomal analysis in cases of intellectual disabilities, and it has been postulated that it might also become the first-tier test in…

Continue ReadingImplementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
Read more about the article 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
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263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.

Abstract Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a…

Continue Reading263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
Read more about the article Epistatic role of the MYH9/APOL1 region on familial hematuria genes.
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Epistatic role of the MYH9/APOL1 region on familial hematuria genes.

Abstract Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1,…

Continue ReadingEpistatic role of the MYH9/APOL1 region on familial hematuria genes.
Read more about the article Berry antioxidants: small fruits providing large benefits.
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Berry antioxidants: small fruits providing large benefits.

Abstract Small berry fruits are consumed because of their attractive colour and special taste, and are considered one of the richest sources of natural antioxidants. Their consumption has been linked…

Continue ReadingBerry antioxidants: small fruits providing large benefits.
Read more about the article Epidemiology, impact, and treatment options of restless legs syndrome in end-stage renal disease patients: an evidence-based review.
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Epidemiology, impact, and treatment options of restless legs syndrome in end-stage renal disease patients: an evidence-based review.

 AbstractRestless legs syndrome (RLS) (or Willis-Ekbom disease) is a neurological disorder with high prevalence among the end-stage renal disease population. This is one of the most predominant types of secondary…

Continue ReadingEpidemiology, impact, and treatment options of restless legs syndrome in end-stage renal disease patients: an evidence-based review.
Read more about the article Physical activity and sedentary behaviour in European children: the IDEFICS study.
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Physical activity and sedentary behaviour in European children: the IDEFICS study.

Abstract To estimate the prevalence of physical activity and sedentary behaviours in European children, and to evaluate the relationship between media availability in personal space and physical activity in relation…

Continue ReadingPhysical activity and sedentary behaviour in European children: the IDEFICS study.
Read more about the article Characterization of the Sandfly fever Naples species complex and description of a new Karimabad species complex (genus Phlebovirus, family Bunyaviridae).
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Characterization of the Sandfly fever Naples species complex and description of a new Karimabad species complex (genus Phlebovirus, family Bunyaviridae).

Abstract Genomic and antigenic characterization of members of the Sandfly fever Naples virus (SFNV) complex reveals the presence of five clades that differ in their geographical distribution. Saint Floris and…

Continue ReadingCharacterization of the Sandfly fever Naples species complex and description of a new Karimabad species complex (genus Phlebovirus, family Bunyaviridae).
Read more about the article Calpain2 protease: A new member of the Wnt/Ca(2+) pathway modulating convergent extension movements in Xenopus.
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Calpain2 protease: A new member of the Wnt/Ca(2+) pathway modulating convergent extension movements in Xenopus.

Abstract Calpains are a family of calcium-dependent intracellular cysteine proteases that regulate several physiological processes by limited cleavage of different substrates. The role of Calpain2 in embryogenesis is not clear…

Continue ReadingCalpain2 protease: A new member of the Wnt/Ca(2+) pathway modulating convergent extension movements in Xenopus.
Read more about the article Autism.
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Autism.

Abstract Autism is a set of heterogeneous neurodevelopmental conditions, characterised by early-onset difficulties in social communication and unusually restricted, repetitive behaviour and interests. The worldwide population prevalence is about 1%.…

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Read more about the article N-alpha-terminal acetylation of histone H4 regulates arginine methylation and ribosomal DNA silencing.
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N-alpha-terminal acetylation of histone H4 regulates arginine methylation and ribosomal DNA silencing.

Abstract Post-translational modifications of histones play a key role in DNA-based processes, like transcription, by modulating chromatin structure. N-terminal acetylation is unique among the numerous histone modifications because it is…

Continue ReadingN-alpha-terminal acetylation of histone H4 regulates arginine methylation and ribosomal DNA silencing.