Search results for " corpus"

showing 10 items of 202 documents

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

2020

International audience; KDM4B is a lysine-specific demethylase with a preferential activity on H3K9 tri/di-methylation (H3K9me3/2)-modified histones. H3K9 tri/di-demethylation is an important epigenetic mechanism responsible for silencing of gene expression in animal development and cancer. However, the role of KDM4B on human development is still poorly characterized. Through international data sharing, we gathered a cohort of nine individuals with mono-allelic de novo or inherited variants in KDM4B. All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had a…

0301 basic medicineMaleJumonji Domain-Containing Histone Demethylases[SDV]Life Sciences [q-bio]Developmental DisabilitiesCorpus callosumHippocampusEpigenesis GeneticHistonesMice0302 clinical medicineNeurodevelopmental disorderPolymicrogyriaGlobal developmental delayAgenesis of the corpus callosumGenetics (clinical)BrainMagnetic Resonance Imaging[SDV] Life Sciences [q-bio]intellectual disabilityBrain sizeFemaledysmorphic hippocampiSignal TransductionHeterozygoteheterozygous variantglobal developmental delayBiologyNervous System MalformationsMethylation03 medical and health sciencesSeizuresReportKDM4BGeneticsmedicineAnimalsHumansneurodevelopmental disorder.Dentate gyrusGenetic VariationJMJD2Bmedicine.diseaseneurodevelopmental disorder030104 developmental biologyagenesis of the corpus callosumNeuroscienceProtein Processing Post-Translational030217 neurology & neurosurgeryVentriculomegalyAmerican journal of human genetics
researchProduct

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

2018

IF 3.822 (2018); International audience

0301 basic medicinePathologymedicine.medical_specialtyFetusALDH18A1Corpus Callosum Agenesisbusiness.industryGenes RecessiveAldehyde Dehydrogenase030105 genetics & hereditymedicine.diseaseMagnetic Resonance ImagingCutis Laxa03 medical and health sciencesFetus[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsGeneticsmedicineHumansAgenesis of Corpus CallosumbusinessAllelesGenetics (clinical)Cutis laxa
researchProduct

Neither a toda virolla nor tumbados a la bartola. A corpus analysis of phraseologically bound spanish words

2021

[EN] This article presents results on the Spanish phraseologically bound words (PLF), also known as cranberry words, based on a corpus analysis. If up to now the different Spanish PLF had been collected introspectively, this article presents a list of the Spanish PLF indicating the phraseological fixation index (IFF) of each one of them in the phraseological unit (UF) that contains them and ordered by the weighted phraseological fixation index (IFFP). To do this, it has been necessary to obtain from the corpus the total number of occurrences of the PLF (NPLF) and to analyse the fixation of these elements both inside the UF or the UFS that contain them (FFPLF) and outside the UF, in their fr…

050101 languages & linguisticsLinguistics and LanguageCorpus linguisticsUnique lexemesElementos únicosPalabras diacríticas05 social sciencesPhraseologyFraseologia050301 educationFraseologíaLanguage and LinguisticsCranberry wordsLingüística de corpus0501 psychology and cognitive sciences0503 educationPhraseologically bound wordsPalabras ligadas fraseológicamente
researchProduct

Is «Social language variation» an operational category for language corpus planning?

2019

Hem constatat les dificultats d’aprofundir les relacions conceptuals entre la variació social i la funcional, que comencen quan ens preguntem quins factors socials són pertinents per descriure el col·loquial. Creiem que cal tenir en compte, en ordre decreixent, les «adscripcions identitàries» que Block (2014) analitza: capital lingüístic, capital cultural, edat, gènere, activitat habitual, «habitus/ideologia/actituds», «classe social», ètnia i religió. En aquest context d’incertesa conceptual, no és estrany que la variació social sigui una dimensió sociolingüística tractada inadequadament en la normativa catalana: Badia (1994) confon els termes diastràtic i diafàsic i llegint els textos nor…

050101 languages & linguisticsLinguistics and LanguageUNESCO::CIENCIAS DE LAS ARTES Y LAS LETRASVariació social05 social sciences050301 educationLanguage corpus planificationLanguage and LinguisticsVariació funcionalGeographic language variationEstandardització lingüísticaSocial language variationPlanificació lingüística de corpusFunctional language variationLanguage standardisation:CIENCIAS DE LAS ARTES Y LAS LETRAS [UNESCO]Codificació lingüísticaVariació geogràfica0501 psychology and cognitive sciencesInstitut d’Estudis Catalans0503 educationLanguage codification
researchProduct

Provoke or encourage improvements? On semantic prosody in English-to-Polish translation

2021

Originally defined as an aura of meaning associated with words used together in a particular context, semantic prosody is a complex linguistic concept, and there is no agreement among researchers as to its precise definition and level of operationalization (word, phrase, text or discourse). Although there have been some studies on semantic prosody in translation, their findings are rather inconclusive and limited to individual words and phrases. Also, there has been no research on semantic prosody conducted so far in Polish-English translation. Intending to fill in this gap, this paper, grounded in corpus linguistics, showcases the role of semantic prosody in a selected English-to-Polish tr…

050101 languages & linguisticsLinguistics and Languagemedia_common.quotation_subjectsemantic prosody05 social sciencesparallel corpusContext (language use)Semantic prosodyLinguisticsAgreement030507 speech-language pathology & audiology03 medical and health sciencesEnglishto-Polish translation0501 psychology and cognitive sciencesMeaning (existential)0305 other medical sciencePsychologycomparable corpusmedia_commonPerspectives: Studies in Translatology
researchProduct

Comparing formulaicity of learner writing through phrase-frames: a corpus-driven study of Lithuanian and Polish EFL student writing

2018

Learner corpus research continues to provide evidence of how formulaic language is (mis)used by learners of English as a foreign language (EFL). This paper deals with less investigated multi-word units in EFL contexts, namely, phrase-frames (Fletcher 2002–2007), i.e. sets of n-grams identical except for one word (it is * to, in the * of). The study compares Lithuanian and Polish learner writing in English in terms of phrase-frames and contrasts them with native speakers. The analysis shows that certain differences between Lithuanian and Polish learners result from transfer from their native languages, yet both groups of learners share many common features. Most importantly, the phrase-frame…

060201 languages & linguisticsLearner corpusLinguistics and LanguageLithuanian EFL learnersPhraseEnglish as a foreign language06 humanities and the artsLithuanianEFL writing ; learner corpus ; Lithuanian EFL learners ; phrase-frame ; Polish EFL learnersphrase-frameLanguage and Linguisticslanguage.human_languageLinguisticsEFL writingLietuva (Lithuania)0602 languages and literaturelanguagePhrase-framelearner corpusStudent writingPsychologyPolish EFL learners
researchProduct

La terminologie du vin au prisme des corpus oraux de dégustation/présentation (français-allemand) : entre émotions, culture et sensorialité

2017

International audience; Cet article vise à interroger et illustrer les apports de larges corpus oraux authentiques pour l'étude de la terminologie d'un domaine « flou », celui de l'oenologie, dans une approche contrastive français-allemand. D'un point de vue théorique, il s'agit tout d'abord de s'arrêter sur la nécessaire redéfinition de plusieurs principes de la terminologie traditionnelle en interrogeant le rôle de l'usage des termes, leur construction prototypique et leurs dimensions extra-techniques. D'un point de vue pratique, on discute ensuite, à partir du cas spécifique des données mobilisées, les contraintes pesant sur la collecte d'un corpus approprié. La dernière partie propose t…

060201 languages & linguisticsLinguistics and LanguageLSPOenologieSémantique06 humanities and the artsTerminologie[SHS.LANGUE] Humanities and Social Sciences/LinguisticsLanguage and LinguisticsLangues de spécialité03 medical and health sciences0302 clinical medicineDiscours spécialisés0602 languages and literatureVinSémantique cognitive[SHS.LANGUE]Humanities and Social Sciences/LinguisticsLinguistique de Corpus030217 neurology & neurosurgery
researchProduct

El diminutivo en el español de Santo Domingo

2016

Esta investigación analiza el uso del sufijo diminutivo en un corpus oral de jóvenes de la República Dominicana. El material procede de la transcripción de veinte entrevistas orales realizadas en los años noventa en Santo Domingo. En este estudio se realiza un análisis de las ocurrencias documentadas, su morfología, sus preferencias en cuanto a la selección de las clases de palabras que se toman como base para la formación de diminutivos, sus posibles valores semánticos y comunicativos, y, por último, se determina la frecuencia de uso del diminutivo en función del sexo de los hablantes. The aim of this research is to analyse the use of the diminutive suffix in an oral corpus of young people…

060201 languages & linguisticsLiteratureSufijos diminutivosLinguistics and LanguageHistorybusiness.industryFrequency of use06 humanities and the artsjóvenes dominicanos.060202 literary studiesLanguage and LinguisticsLinguisticsDiminutivediminutive suffixesDominican youngsters.0602 languages and literatureSelection (linguistics)corpus oralSuffixoral corpusbusiness
researchProduct

Readability and the Web

2012

Readability indices measure how easy or difficult it is to read and comprehend a text. In this paper we look at the relation between readability indices and web documents from two different perspectives. On the one hand we analyse how to reliably measure the readability of web documents by applying content extraction techniques and incorporating a bias correction. On the other hand we investigate how web based corpus statistics can be used to measure readability in a novel and language independent way.

060201 languages & linguisticsMeasure (data warehouse)Information retrievalcontent extractionlcsh:T58.5-58.64Relation (database)lcsh:Information technologyComputer Networks and CommunicationsComputer sciencebusiness.industryweb document readability; content extraction; corpus statistics06 humanities and the arts02 engineering and technologycorpus statisticsReadabilityWorld Wide Webweb document readability0602 languages and literatureContent extractionComputingMethodologies_DOCUMENTANDTEXTPROCESSING0202 electrical engineering electronic engineering information engineeringWeb application020201 artificial intelligence & image processingBias correctionbusinessFuture Internet
researchProduct

La transcripción del lenguaje afásico

2004

En el presente artículo reflexionamos sobre las necesidades que se plantean en la transcripción de un corpus de lenguaje oral procedente de hablantes afásicos; estas reflexiones surgen a propósito de la elaboración del corpus PerLA (Percepción y Lenguaje Afásico).Se revisan los sistemas de trancripción del Análisis conversacional, del proyectos CHILDES y del SALT, señalando sus ventajas e inconvenientes para este tipo de datos.

:LINGÜÍSTICA [UNESCO]lingüística de corpuscorpus linguisticslingüística clínicatranscripcióntranscriptionUNESCO::LINGÜÍSTICAclinical linguistics
researchProduct