Read more about the article Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.
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Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.

Abstract Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome aneuploidies. Few studies have shown that…

Continue ReadingTargeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.
Read more about the article Mouse Stbd1 is -myristoylated and affects ER-mitochondria association and mitochondrial morphology.
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Mouse Stbd1 is -myristoylated and affects ER-mitochondria association and mitochondrial morphology.

Abstract Starch binding domain-containing protein 1 (Stbd1) is a carbohydrate-binding protein that has been proposed to be a selective autophagy receptor for glycogen. Here, we show that mouse Stbd1 is…

Continue ReadingMouse Stbd1 is -myristoylated and affects ER-mitochondria association and mitochondrial morphology.
Read more about the article HLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus.
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HLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus.

Abstract The HLA-G molecule presents immunomodulatory properties that might inhibit immune responses when interacting with specific Natural Killer and T cell receptors, such as KIR2DL4, ILT2 and ILT4. Thus, HLA-G…

Continue ReadingHLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus.
Read more about the article Linking loggerhead locations: using multiple methods to determine the origin of sea turtles in feeding grounds.
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Linking loggerhead locations: using multiple methods to determine the origin of sea turtles in feeding grounds.

Abstract Many marine megavertebrate taxa, including sea turtles, disperse widely from their hatching or birthing locations but display natal homing as adults. We used flipper tagging, satellite tracking and genetics…

Continue ReadingLinking loggerhead locations: using multiple methods to determine the origin of sea turtles in feeding grounds.
Read more about the article Improving the Conservation of Mediterranean Chondrichthyans: The ELASMOMED DNA Barcode Reference Library.
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Improving the Conservation of Mediterranean Chondrichthyans: The ELASMOMED DNA Barcode Reference Library.

Abstract Cartilaginous fish are particularly vulnerable to anthropogenic stressors and environmental change because of their K-selected reproductive strategy. Accurate data from scientific surveys and landings are essential to assess conservation…

Continue ReadingImproving the Conservation of Mediterranean Chondrichthyans: The ELASMOMED DNA Barcode Reference Library.
Read more about the article A quantitative method for the assessment of dysarthrophonia in myasthenia gravis.
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A quantitative method for the assessment of dysarthrophonia in myasthenia gravis.

Abstract Speech and voice symptomatology (dysarthrophonia) are often reported by patients with myasthenia gravis (MG). However, they have been poorly investigated despite their significant impact on quality of life. Quantitative…

Continue ReadingA quantitative method for the assessment of dysarthrophonia in myasthenia gravis.
Read more about the article Gene variants of adhesion molecules act as modifiers of disease severity in MS.
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Gene variants of adhesion molecules act as modifiers of disease severity in MS.

Abstract To assess the potential effect of variants in genes encoding molecules that are implicated in leukocyte trafficking into the CNS on the clinical phenotype of multiple sclerosis (MS). A…

Continue ReadingGene variants of adhesion molecules act as modifiers of disease severity in MS.
Read more about the article A Novel Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
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A Novel Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.

Abstract Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been…

Continue ReadingA Novel Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
Read more about the article Strobilurins as growth-promoting compounds: how Stroby regulates Arabidopsis leaf growth.
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Strobilurins as growth-promoting compounds: how Stroby regulates Arabidopsis leaf growth.

Abstract Strobilurins are an important class of agrochemical fungicides used throughout the world on a wide variety of crops as protection against fungal pathogens. In addition to this protective role,…

Continue ReadingStrobilurins as growth-promoting compounds: how Stroby regulates Arabidopsis leaf growth.
Read more about the article Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.
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Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.

Abstract The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women,…

Continue ReadingGenomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.