Search results for " link"
showing 10 items of 443 documents
La patria potestad prorrogada y la patria potestad rehabilitada en el nuevo proyecto de ley de reforma de la legislación civil y procesal para el apo…
2021
It is intended to analyze and reflect in the present work about the institution of the extension of parental authority and parental authority rehabilitated in the new regulation in the Draft Law that reforms the civil and procedural legislation to support people with disabilities in the exercise of their legal capacity. In this project, the extended parental authority and the rehabilitated parental authority are eliminated from the scope of disability, following a criterion that demands the treatment of people with disabilities with the attention that their specific situation requires, eliminating a regime that seems contrary to the system of promoting the autonomy of adults with disabiliti…
Derecho de acceso a la información : el desafío de una sociedad guiada por la transparencia en el ordenamiento jurídico español
2021
This study will address the two aspects of rights linked to information, the right to information and the right to information, to end with the formulation of some conclusions that, distancing themselves from a mere summary, seek to encourage doctrinal and political debate on assumptions that, being peacefully settled, should be reformulated in light of the repeated crisis of transparency. For this, it will be articulated by addressing, first, the most significant aspects of the right to information and its link with the right to freedom of expression, as well as the new challenges that these rights face in the digital age, to then analyze the right to information, its regulation in the Spa…
Tetrazīna ciklu saturoši proteīnu linkeri biokonjugācijā
2022
Tetrazīna ciklu saturoši proteīnu linkeri biokonjugācijā. Strazdiņa R., zinātniskais vadītājs doc. Kļimenkovs I., bakalaura darbs, 39 lappuses, 49 attēli, 33 literatūras avoti, 3 pielikumi. Latviešu valodā. PROTEĪNU LINKERI, 1,2,3-TRIAZOLS, TETRAZĪNS, ALDEHĪDGRUPA Izstrādāta 7 soļu sintēze proteīnu linkerim, kas satur 1,2,3-triazola ciklu, kā arī tetrazīna ciklu un aldehīdgrupu piesaistīšanai mērķa molekulām.
Active learning strategies for the deduplication of electronic patient data using classification trees.
2012
Graphical abstractDisplay Omitted Highlights? Active learning for medical record linkage is used on a large data set. ? We compare a simple active learning strategy with a more sophisticated variant. ? The active learning method of Sarawagi and Bhamidipaty (2002) 6] is extended. ? We deliver insights into the variations of the results due to random sampling in the active learning strategies. IntroductionSupervised record linkage methods often require a clerical review to gain informative training data. Active learning means to actively prompt the user to label data with special characteristics in order to minimise the review costs. We conducted an empirical evaluation to investigate whether…
Genetic variation and urine cadmium levels: ABCC1 effects in the Strong Heart Family Study
2021
Abstract Genetic effects are suspected to influence cadmium internal dose. Our objective was to assess genetic determinants of urine cadmium in American Indian adults participating in the Strong Heart Family Study (SHFS). Urine cadmium levels and genotyped short tandem repeat (STR) markers were available on 1936 SHFS participants. We investigated heritability, including gene-by-sex and smoking interactions, and STR-based quantitative trait locus (QTL) linkage, using a variance-component decomposition approach, which incorporates the genetic information contained in the pedigrees. We also used available single nucleotide polymorphisms (SNPs) from Illumina’s Metabochip and custom panel to ass…
X-Linked Dilated Cardiomyopathy.
1995
We report on a family with a severe form of X-linked dilated cardiomyopathy (DCM). Two brothers, the elder requiring heart transplantation, and a maternal cousin presented elevated creatine kinase levels, increased right ventricular diameters and electrocardiographic abnormalities. All complained of exertional cramping myalgia, but none had muscle weakness or a pathological electromyogram. Muscle biopsies of these individuals revealed a mild myopathic picture with atrophic type I and hypertrophic type II fibers. Immunofluorescence using N- and C-terminal antibodies (dys-2, dys-3) against the dystrophin protein showed preserved, but reduced intensity of staining of the sarcolemmal membranes.…
Think globally: Cross-linguistic variation in electrophysiological activity during sentence comprehension
2011
This paper demonstrates systematic cross-linguistic differences in the electrophysiological correlates of conflicts between form and meaning (“semantic reversal anomalies”). These engender P600 effects in English and Dutch (e.g. Kolk et al., 2003 ; Kuperberg et al., 2003), but a biphasic N400 – late positivity pattern in German (Schlesewsky and Bornkessel-Schlesewsky, 2009), and monophasic N400 effects in Turkish (Experiment 1) and Mandarin Chinese (Experiment 2). Experiment 3 revealed that, in Icelandic, semantic reversal anomalies show the English pattern with verbs requiring a position-based identification of argument roles, but the German pattern with verbs requiring a case-based identi…
Genome-wide Association Study of Alcohol Dependence
2009
Context Alcohol dependence is a serious and common public health problem. It is well established that genetic factors play a major role in the development of this disorder. Identification of genes that contribute to alcohol dependence will improve our understanding of the mechanisms that underlie this disorder. Objective To identify susceptibility genes for alcohol dependence through a genome-wide association study (GWAS) and a follow-up study in a population of German male inpatients with an early age at onset. Design The GWAS tested 524 396 single-nucleotide polymorphisms (SNPs). All SNPs with P −4 were subjected to the follow-up study. In addition, nominally significant SNPs from genes t…
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
2007
Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS.
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
2000
Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FR…