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Sökning: WFRF:(Rosales Victor)

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1.
  • McMillan, Hilary, et al. (författare)
  • Panta Rhei 2013-2015 : global perspectives on hydrology, society and change
  • 2016
  • Ingår i: Hydrological Sciences Journal. - : Taylor & Francis Group. - 0262-6667 .- 2150-3435. ; 61:7, s. 1174-1191
  • Tidskriftsartikel (refereegranskat)abstract
    • In 2013, the International Association of Hydrological Sciences (IAHS) launched the hydrological decade 2013-2022 with the theme "Panta Rhei: Change in Hydrology and Society". The decade recognizes the urgency of hydrological research to understand and predict the interactions of society and water, to support sustainable water resource use under changing climatic and environmental conditions. This paper reports on the first Panta Rhei biennium 2013-2015, providing a comprehensive resource that describes the scope and direction of Panta Rhei. We bring together the knowledge of all the Panta Rhei working groups, to summarize the most pressing research questions and how the hydrological community is progressing towards those goals. We draw out interconnections between different strands of research, and reflect on the need to take a global view on hydrology in the current era of human impacts and environmental change. Finally, we look back to the six driving science questions identified at the outset of Panta Rhei, to quantify progress towards those aims.
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2.
  • Stray-Pedersen, Asbjorg, et al. (författare)
  • Primary immunodeficiency diseases : Genomic approaches delineate heterogeneous Mendelian disorders
  • 2017
  • Ingår i: Journal of Allergy and Clinical Immunology. - : MOSBY-ELSEVIER. - 0091-6749 .- 1097-6825. ; 139:1, s. 232-245
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. Objective: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs. Methods: Patients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping. Results: A likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/ 110) and management was directly altered in nearly a quarter (26/ 110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays. Conclusion: This high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.
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