Search results for "HRAS"

showing 10 items of 293 documents

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

2011

Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…

AdultHeart Defects CongenitalMalemedicine.medical_specialtyAdolescentrasopathy.RASopathyShort statureProto-Oncogene MasArticleProto-Oncogene Proteins p21(ras)Young AdultGermline mutationSettore MED/38 - Pediatria Generale E SpecialisticaCostello syndromePregnancyInternal medicineNeoplasmsGeneticsMedicineHumansHRASChildGenetics (clinical)business.industryloose anagen hairCostello SyndromeMacrocephalyHypertrophic cardiomyopathyBrainInfantgenotype–phenotype correlationmedicine.diseaseDermatologyMagnetic Resonance ImagingMusculoskeletal AbnormalitiesEndocrinologyPhenotypeChild PreschoolFaceMutationFemalemedicine.symptombusinessMultifocal atrial tachycardiaAmerican journal of medical genetics. Part A
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Contemporary Irish poets’ pictorial (self-)portraits

2012

International audience

[SHS.LITT] Humanities and Social Sciences/LiteratureekphrasisIrish poetry[SHS.LITT]Humanities and Social Sciences/LiteratureDerridaself-portraiture[ SHS.LITT ] Humanities and Social Sciences/LiteratureComputingMilieux_MISCELLANEOUSblindness
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Parallèles/comparables, langue originale/traduite… : s'y retrouver dans le maquis des corpus potentiels pour la traduction économique et financière

2018

Bibliographie citée :Durr, Margarete (2017). La notion de pertinence en traduction juridique bidirectionnelle français-allemand. Thèse de doctorat en sciences du langage préparée sous la direction de Th. Grass. Strasbourg : Université de StrasbourgGledhill, Christoph / Kübler, Nathalie (2016): « What can linguistic approaches bring to English for Specific Purposes? », ASp - La revue du GERAS, 69, pp. 65-95.Loock, Rudy (2016). La traductologie de corpus. Villeneuve d’Ascq : Presses du Septentrion.Teubert, Wolfgang (1996). « Comparable or Parallel Corpora? », International Journal of Lexicography, 9(3), pp. 238-264.; International audience; Cette proposition, qui s’inscrit dans l’axe 4 « Ter…

PhraséologieTraductologieLinguistique de corpus[SHS.LANGUE]Humanities and Social Sciences/LinguisticsTerminologieCorpus[SHS.LANGUE] Humanities and Social Sciences/LinguisticsFinance
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Kollokationen in Leserbriefen der Wochenzeitschrift Die Zeit

2020

Im Rahmen der Phraseologieforschung haben Kollokationen traditionell nur wenig Beachtung gefunden. Im Gegensatz zu Idiomen sind sie in der Regel semantisch transparent und bereiten daher Fremdsprachenlernern selten rezeptive Schwierigkeiten. Bei der Textproduktion muss jedoch die Problematik der Kollokationen beachtet werden. Aus diesem Grund halten wir Kollokationen für einen wichtigen Bereich der Phraseologie. Im vorliegenden Beitrag wird die Aufmerksamkeit auf die syntaktische Struktur, den Gebrauch und die Funktion von Kollokationen in 243 Leserbriefen der Zeitschrift Die Zeit gerichtet. Nach Heranziehung zweier Kollokationswörterbücher sowie einiger anderer Quellen konnten 278 Kollokat…

Studier av enskilda språkcontentskollokaatiotInhaltcollocateBasisSpecific LanguagesfraseologiaWertungletter to the editorLeserbriefvaluessaksan kielisisältöKollokatorphraseologyaikakauslehdetPhraseologie
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Register Variation Across English Pharmaceutical Texts: A Corpus-driven Study of Keywords, Lexical Bundles and Phrase Frames in Patient Information L…

2013

Abstract This study constitutes an initial step towards filling a gap in corpus linguistics studies of linguistic and phraseological variation across English pharmaceutical texts, in particular in terms of recurrent linguistic patterns. The study conducted from a register- perspective ( Biber & Conrad, 2009 ), which employs both quantitative and qualitative research procedures, aims to provide a corpus-driven description of vocabulary and phraseology, namely key words, lexical bundles, and phrase frames, used in patient information leaflets and summaries of product characteristics (represented by 463 and 146 texts, respectively) written originally in English and collected in two domain-spec…

Register (sociolinguistics)VocabularyPhrasephrase framesComputer sciencemedia_common.quotation_subjectcorpus linguisticscomputer.software_genreCorpus linguisticslexical bundlespharmaceutical textsphraseologyGeneral Materials Sciencemedia_commoncomputer.programming_languagebusiness.industrykeywordsLinguisticsLexicographyVariation (linguistics)Phraseologyregister analysisText typesArtificial intelligenceLexicobusinesscomputerNatural language processingProcedia - Social and Behavioral Sciences
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Corpus analysis of phraseology in an A1 level textbook of German as a foreign language

2018

This paper aims to analyse the extent to which the textbook for German as a foreign language DaF kompakt A1 (Sander et al., 2011) complies with the recommendations of the Common European Framework of Reference for Languages (Council of Europe, 2001) (hereafter CEFR) in respect to lexical competence and sociolinguistic competence in receptive and productive activities, specifically with regard to phraseological units. In this respect, we have focused on sentential formulae and fixed frames present in a corpus containing the textbook materials, and we have checked whether those fixed expressions correspond to the phraseological and sociolinguistic compe-tences that are expected in the Framewo…

GermanLinguistics and LanguageCorpus analysisPhraseologyGerman as a foreign languagelanguageCommon European Framework of Reference for LanguagesSociologySanderCompetence (human resources)Language and LinguisticsLinguisticslanguage.human_language
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'[I]t wasn’t in the picture and is not': Blind Spots and Vanishing Points in Irish Poetical Self-Portraits

2016

International audience; Pictoriality and a propensity for self-examination and self-representation are characteristic of the poetry of Louis MacNeice, Derek Mahon, Seamus Heaney and Paul Muldoon. In many a poem, these four contemporary Irish poets try to capture their own portraits in words and images, through highly visual poems often inspired by paintings. This paper first examines how these poets use images and invest paintings, how verbal and iconic texts interact in their creations and to what extent self-exegesis is made possible and more successful through ekphrasis. With reference to Jacques Derrida’s essay on self-portraiture—Memoirs of the Blind: Self-Portraits and Other Ruins—thi…

Derek Mahon[SHS.LITT]Humanities and Social Sciences/LiteraturePaul Muldoon[ SHS.LITT ] Humanities and Social Sciences/Literature[SHS]Humanities and Social Sciences[SHS.LITT] Humanities and Social Sciences/LiteraturepictorialityekphrasisIrish poetryself-portraitureSeamus HeaneyLouis MacNeice[ SHS ] Humanities and Social Sciences[SHS] Humanities and Social Sciences
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Healthy Aging and Sentence Production: Disrupted Lexical Access in the Context of Intact Syntactic Planning.

2020

AbstractHealthy ageing does not affect all features of language processing equally. In this study, we investigated the effects of ageing on different processes involved in fluent sentence production, a complex task that requires the successful execution and coordination of multiple processes. In Experiment 1, we investigated age-related effects on the speed of syntax selection using a syntactic priming paradigm. Both young and older adults produced target sentences quicker following syntactically related primes compared to unrelated primes, indicating that syntactic facilitation effects are preserved with age. In Experiment 2, we investigated age-related effects in syntactic planning and le…

Phraselcsh:BF1-990Context (language use)050105 experimental psychologyLexical itemsyntactic planning03 medical and health sciences0302 clinical medicineSelection (linguistics)Psychology0501 psychology and cognitive sciencesprimingGeneral PsychologyOriginal Research05 social sciencesSyntaxsentence productionNoun phraselexical retrievallcsh:Psychologyhealthy agingAffect (linguistics)PsychologyPriming (psychology)030217 neurology & neurosurgerySentenceCognitive psychologyFrontiers in psychology
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¿Qué es un buen ejemplo? La ejemplificación en la teoría lexicográfica alemana

2011

The purpose of this paper is to give an overview of the theory of the dictionary example in the recent German didactic lexicography. A chronological review of the most outstanding contributions made by German speaking linguists in the last three decades will allow us to offer an accurate description of this fundamental component of dictionary entries and to identify its main characteristics from the point of view of its composition, structure and function. The main conclusion reached by the German authors is that the form of dictionary examples must adjust to the requirements of first and second language learners of German. This will constrain the selection of the vocabulary, syntax and sty…

Linguistics and LanguageVocabularyPhraseLiterature and Literary TheoryPoint (typography)media_common.quotation_subjectArtSyntaxLanguage and LinguisticsLinguisticslanguage.human_languageStyle (sociolinguistics)GermanSelection (linguistics)languageComposition (language)media_commonRevista de Filología Alemana
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Towards Teaching English for Pharmaceutical Purposes: An Attempt at a Description of Key Vocabulary and Phraseology in Clinical Trial Protocols and E…

2014

With the exception of medical schools or medical universities, English for Pharmaceutical Purposes is rarely taught as a specialist language course or ESP module at the university-level (e.g. designed specifically for training translators of specialist texts). This may be caused by, among other factors, the lack of comprehensive description of vocabulary and phraseology used across different pharmaceutical text types and genres, e.g. patient-pharmacist interactions, patient information leaflets, clinical trial protocols etc. This preliminary study is designed as an initial step to develop a description of vocabulary and phraseology, namely keywords, n-grams consisting of 4 words and phrase …

LexisVocabularyPhrasebusiness.industrymedia_common.quotation_subjectEnglish for specific purposesLinguisticsKey (music)Clinical trialPhraseologyPedagogyMedicineText typesbusinessmedia_common
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