Search results for "WIDE"
showing 10 items of 1235 documents
Lissencephalic syndromes: brain and beyond
2009
Lissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pachygyria and it is the most severe form of malformations derived from abnormal neuronal migration. It is defined as a smooth or nearly smooth cerebral surface with absence of normal sulci and gyria. It encompasses a group of syndromes which show many different clinical conditions. Four groups are actually distinguished: classic lissencephaly variants, other lissencephalies including forms with unknown pathogenesis, microlissencephaly spectrum and Cobblestone cortical malformations. Several genes and proteins are involved in this syndromic spectrum and each year new mol…
Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci
2011
Primary sclerosing cholangitis (PSC) is a chronic bile duct disease affecting 2.4-7.5% of individuals with inflammatory bowel disease. We performed a genome-wide association analysis of 2,466,182 SNPs in 715 individuals with PSC and 2,962 controls, followed by replication in 1,025 PSC cases and 2,174 controls. We detected non-HLA associations at rs3197999 in MST1 and rs6720394 near BCL2L11 (combined P = 1.1 x 10(-16) and P = 4.1 x 10(-8), respectively).
Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32
2010
To identify susceptibility loci for non-Hodgkin lymphoma subtypes, we conducted a three-stage genome-wide association study. We identified two variants associated with follicular lymphoma at 6p21.32 (rs10484561, combined P = 1.12 × 10-29 and rs7755224, combined P = 2.00 × 10-19; r2 = 1.0), supporting the idea that major histocompatibility complex genetic variation influences follicular lymphoma susceptibility. We also found confirmatory evidence of a previously reported association between chronic lymphocytic leukemia/small lymphocytic lymphoma and rs735665 (combined P = 4.24 × 10-9). © 2010 Nature America, Inc. All rights reserved.
Características y visibilidad de las revistas españolas de ciencias de la salud en bases de datos
2015
Se describen las características de 207 revistas españolas de ciencias de la salud activas en 2014 y su visibilidad en seis bases de datos biomédicas y multidisciplinares. Scopus e Ibecs son las bases de datos que mayor número de revistas cubren, y Medline y WoS las que menos. La disciplina mejor representada es medicina, seguida de psicología, enfermería y farmacia. Se observa la práctica ausencia de revistas editadas exclusivamente en papel, la existencia de revistas publicadas en inglés, el aumento de versiones bilingües español-inglés y el acceso gratuito a los contenidos. El artículo incorpora el censo de revistas, que puede servir de referencia para los investigadores para selecciona…
Reducing disruptive behaviours and improving learning climates with class-wide positive behaviour support in middle schools
2014
Disruptive behaviours in classrooms pose a significant challenge for learning in schools and are, at the same time, a risk factor for students’ academic achievement and a major source for work-related stress among teachers. Earlier research suggests that clarifying the classroom rules and behavioural expectations, monitoring students’ adherence to them and using behaviour-specific praise are simple and effective practices to reduce disruptive behaviour. Most of the interventions have been developed for elementary schools, although behaviour problems tend to be more common in middle schools. This two-month pilot study using a pre–post design evaluated the effects of a class-wide intervention…
Weaving words for textile museums: the development of the linked SILKNOW thesaurus.
2022
Abstract The cultural heritage domain in general and silk textiles, in particular, are characterized by large, rich and heterogeneous data sets. Silk heritage vocabulary comes from multiple sources that have been mixed up across time and space. This has led to the use of different terminology in specialized organizations in order to describe their artefacts. This makes data interoperability between independent catalogues very difficult. To address these issues, SILKNOW created a multilingual thesaurus related to silk textiles. It was carried out by experts in textile terminology and art historians and computationally implemented by experts in text mining, multi-/cross-linguality and semanti…
Adding semantics to cloud computing to enhance service discovery and access
2012
Cloud computing is a technological paradigm that permits to offer computing services over the Internet. This new service model is closely related to previous, well-known distributed computing initiatives such as Web services and grid computing. In the current socio-economic climate, the affordability of cloud computing has gained it popularity among today's innovations. Under these circumstances, more and more cloud services become available. Consequently, it is becoming more and more difficult for service consumers to find and access those cloud services that fulfill their requirements. In this work, a cloud computing ontology is proposed that facilitates a semantic identification, discove…
Comprehensive analysis of forty yeast microarray datasets reveals a novel subset of genes (APha-RiB) consistently negatively associated with ribosome…
2014
Background The scale and complexity of genomic data lend themselves to analysis using sophisticated mathematical techniques to yield information that can generate new hypotheses and so guide further experimental investigations. An ensemble clustering method has the ability to perform consensus clustering over the same set of genes from different microarray datasets by combining results from different clustering methods into a single consensus result. Results In this paper we have performed comprehensive analysis of forty yeast microarray datasets. One recently described Bi-CoPaM method can analyse expressions of the same set of genes from various microarray datasets while using different cl…
Comprehensive analysis of forty yeast microarray datasets reveals a novel subset of genes (APha-RiB) consistently negatively associated with ribosome…
2014
This article has been made available through the Brunel Open Access Publishing Fund. Background: The scale and complexity of genomic data lend themselves to analysis using sophisticated mathematical techniques to yield information that can generate new hypotheses and so guide further experimental investigations. An ensemble clustering method has the ability to perform consensus clustering over the same set of genes from different microarray datasets by combining results from different clustering methods into a single consensus result. Results: In this paper we have performed comprehensive analysis of forty yeast microarray datasets. One recently described Bi-CoPaM method can analyse express…
Combined approaches to identify genomic regions involved in phenotypic differentiation between low divergent breeds: Application in Sardinian sheep p…
2019
Selective breeding has led to modifications in the genome of many livestock breeds. In this study, we identified the genomic regions that may explain some of the phenotypic differences between two closely related breeds from Sardinia. A total of 44 animals, 20 Sardinian Ancestral Black (SAB) and 24 Sardinian White (SW), were genotyped using the Illumina Ovine 50K array. A total of 68, 38 and 15 significant markers were identified using the case–control genome-wide association study (GWAS), the Bayesian population differentiation analysis (FST) and the Rsb metric, respectively. Comparisons among the approaches revealed a total of 22 overlapping markers between GWAS and FST and one marker bet…