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 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 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 MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.
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MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.

Abstract DNA methylation is the most characterized epigenetic process exhibiting stochastic variation across different tissues and individuals. In non-invasive prenatal testing (NIPT) fetal specific methylated regions can potentially be used…

Continue ReadingMeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.
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 Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
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Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

Abstract MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and, in cooperation with other myogenic regulatory factors MYOD and MYF5, is a key regulator of early stages…

Continue ReadingRecessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
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.
Read more about the article Meta-Analysis of Common and Rare Variants.
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Meta-Analysis of Common and Rare Variants.

Abstract Meta-analysis is a statistical technique that is widely used for improving the power to detect associations, by synthesizing data from independent studies, and is extensively used in the genomic…

Continue ReadingMeta-Analysis of Common and Rare Variants.
Read more about the article Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
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Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Abstract Biallelic mutations in gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families…

Continue ReadingRothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.