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Search Results: 1 - 10 of 3382 matches for " Marlène Huyvaert "
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Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene
Amélie Bonnefond, Julien Philippe, Emmanuelle Durand, Aurélie Dechaume, Marlène Huyvaert, Louise Montagne, Michel Marre, Beverley Balkau, Isabelle Fajardy, Anne Vambergue, Vincent Vatin, Jér?me Delplanque, David Le Guilcher, Franck De Graeve, Cécile Lecoeur, Olivier Sand, Martine Vaxillaire, Philippe Froguel
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0037423
Abstract: Background Maturity-onset of the young (MODY) is a clinically heterogeneous form of diabetes characterized by an autosomal-dominant mode of inheritance, an onset before the age of 25 years, and a primary defect in the pancreatic beta-cell function. Approximately 30% of MODY families remain genetically unexplained (MODY-X). Here, we aimed to use whole-exome sequencing (WES) in a four-generation MODY-X family to identify a new susceptibility gene for MODY. Methodology WES (Agilent-SureSelect capture/Illumina-GAIIx sequencing) was performed in three affected and one non-affected relatives in the MODY-X family. We then performed a high-throughput multiplex genotyping (Illumina-GoldenGate assay) of the putative causal mutations in the whole family and in 406 controls. A linkage analysis was also carried out. Principal Findings By focusing on variants of interest (i.e. gains of stop codon, frameshift, non-synonymous and splice-site variants not reported in dbSNP130) present in the three affected relatives and not present in the control, we found 69 mutations. However, as WES was not uniform between samples, a total of 324 mutations had to be assessed in the whole family and in controls. Only one mutation (p.Glu227Lys in KCNJ11) co-segregated with diabetes in the family (with a LOD-score of 3.68). No KCNJ11 mutation was found in 25 other MODY-X unrelated subjects. Conclusions/Significance Beyond neonatal diabetes mellitus (NDM), KCNJ11 is also a MODY gene (‘MODY13’), confirming the wide spectrum of diabetes related phenotypes due to mutations in NDM genes (i.e. KCNJ11, ABCC8 and INS). Therefore, the molecular diagnosis of MODY should include KCNJ11 as affected carriers can be ideally treated with oral sulfonylureas.
Dagboksmetod att beskriva sl jdarbete med elevers och l rares egna ord
Marléne Johansson
Techne Series : Research in Sloyd Education and Craft Science A , 2011,
Abstract: I denna artikel ligger fokus p dagbokstexter f r reflektion och l rande i skolans sl jdundervisning. Att dokumentera och skriva om sin dag och sina k nslor har f rekommit sedan m nniskan b rjade skriva. Dagb cker som l mnats t efter-v rlden har blivit intressanta dokument som speglat den tid de r skrivna i. Likas p g r idag en omfattande dokumentation av h ndelser som snabbt n r andra via virtuella medier. D remot har dagboksanteckningar inom sl jdforskning anv nts f rst under senare r. I artikeln redog rs f r erfarenheter med dagboks-anteckningar insamlade som empiriskt forskningsunderlag vid tre tillf llen; Skolverkets f rsta nationella utv rdering av grundskolans sl jd mne 1992–1996, NU-92 (Johansson, 1994, 1995; Skolverket, 1993, 1994a, 1994b), avhandlings-studie av Johansson (Johansson, 1999, 2002) och Skolverkets andra nationella utv rdering av grundskolans sl jd mne 2003–2007, NU-03 (Hasselskog, 2004, 2010; Johansson & Hasselskog, 2008; Skolverket, 2005, 2007). S kord: metod, sl jd, dagbok, elev, l rare, sociokulturellt URN:NBN:no-29958
Vad och hur g r de? att synligg ra l rande i grundskolans sl jdpraktik via videoetnografi och mikroanalys
Marléne Johansson
Techne Series : Research in Sloyd Education and Craft Science A , 2011,
Abstract: Artikeln bygger p resultat och erfarenheter av etnografiskt insamlade videoinspelningar fr n grundskolans sl jdundervisning utg ende fr n tre studier; dels vid ett projekt med f rstudier under slutet av 1990-talet (Johansson, 1996), dels vid avhandlingsprojektet Sl jdpraktik i skolan (Johansson, 2002) och dels inom forskningsprojektet Kommunikation och l rande i sl jdpraktiker, (”Komol r-projektet”), under 2005 2010 (Lindstr m, Borg, Johansson & Lindberg, 2003). Att insamla empiri i autentiska sl jdmilj er r av intresse d l randesituationer kan synligg ras n r elever med hj lp av material och redskap arbetar med att tillverka artefakter. Utifr n detaljerade analyser av sl jdaktiviteter g r det att uppt cka det som utspelar sig och m jligheter ges att uppfatta n got annat j mf rt med vad man kan tro k nna v l eller ha f renklade och till och med felaktiga uppfattningar om. Videoobservationer m jligg r att antaganden ist llet g rs p empiriskt grundat datamaterial. Med risk att videofilma och analysera det man tror sig veta och s ka har forskningsprojektens insamlingar mer f ruts ttningsl st arbetat efter vad och hur elever och l rare g r i sl jdpraktik och vad man f r veta n r sl jdaktiviteter analyseras mer ing ende. Videomaterialen har analyserats b de p en mer vergripande niv och detaljerat med hj lp av mikroanalyser. D refter har l randet synliggjorts och beskrivits bland annat i teman f r att visa hur personerna r resurser f r varandra och hur l randet utvecklas genom olika spr kanv ndning och med sl jdpraktikens fysiska redskap och material. S kord: metod, sl jd, klassrumsforskning, videoetnografi, mikroanalys URN:NBN:no-29955
Nationalism and state control in Russia: A weakened social consensus
Marlène Laruelle
Revista CIDOB d'Afers Internacionals , 2011,
Abstract: Nationalism in Russia is played out on several registers. It is the instrument by which the ruling elites succeed in effacing (at least superficially) their internal divisions and unifying the political spectrum under their banner. It can also be likened to a new form of state-proposed social contract, an attempt to remobilise society to its advantage by drawing on those elements of its cultural reservoirs that form a consensus around the theme of patriotism. Lastly, for the tiny proportion of the population committed to radical right-wing parties, it makes it possible to mobilise against the “other” at a time when massive social discontent is being expressed in xenophobic terms. Nationalism is therefore akin to an amalgam that reveals the multiplicity of current social and cultural experiences in contemporary Russia. Through nationalism, those who have lost out as a result of the reforms formulate their critique of the present and their nostalgia for the past, whereas the elites and the middle classes that have gained from these changes express their satisfaction and belief that Russia will win the game of globalisation.
Reynaud Emmanuelle (dir.), 2006, Le développement durable au c ur de l’entreprise. Pour une approche transverse du développement durable, Dunod, 256 p.
Marlène Gerland
Développement Durable et Territoires , 2008,
Abstract: Cet ouvrage collectif dirigé par Emmanuelle Reynaud (Professeure à l’Institut d’administration des entreprises d’Aix-en-Provence) rassemble cinq auteurs : Florence Depoers, Caroline Gauthier, Jean-Pascal Gond et Grégory Schneider-Maunoury. Leurs différentes contributions se rejoignent sur l’objectif commun d’ apporter des solutions pour opérationnaliser les valeurs du développement durable (p. 33). Cet ouvrage a avant tout été pensé comme un manuel à l’attention des managers et des enseign...
Vad r tillr ckligt mjukt? – kulturell socialisering och l rande i skolans sl jdpraktik
Bent Illum,Marléne Johansson
FORMakademisk , 2009,
Abstract: Utg ngspunkten i denna artikel r empiriskt f rankrade exempel fr n den svenska grundskolans sl jdundervisning, rskurs 5. Studien r relaterad till ”Komol rprojektet” (Kommunikation och l rande i sl jdpraktiker) som r finansierat genom det svenska Vetenskaps-r det. Som hj lpmedel f r att skildra hur kulturell socialisering och l rande i skolans sl jdpraktik kan formuleras anv nder vi oss av videoinspelade klassrums-observa-t-ioner. Fokus f r analysarbetet r klassrumskommunikationen den ena sidan och elevernas interaktion med material och redskap den andra. Sl jd r ett p tagligt kommunikativt mne p flera vis. Elever bygger upp en egen erfarenhetsv rld n r de sj lva f r erfarenheter av hur ”tillr ckligt mjuk” k nns genom att se, k nna och uppleva med kroppen. L rande-situationerna ger tillg ng till tidigare erfarenheter, b de egna och andras. Under social interaktion, tillsammans med redskap och material, terskapas och nyskapas ett kollektivt minne. Sl jdkunnandet f rv rvas i interaktion med omv rlden, tanke och handling byggs in i upplevelserna.
Assessing parameter invariance in item response theory s logistic two item parameter model: A monte carlo investigation
Marlène Galdin,Louis Laurencelle
Tutorials in Quantitative Methods for Psychology , 2010,
Abstract: Statistical properties of the ability level estimate (theta) in item response theory (IRT) were investigated through a Monte Carlo investigation, based on data generated with a four cases multifactor design. Dichotomous items and the logistic two-parameter IRT model in a one-dimensional setting have been chosen. The estimation procedure was the marginalized Bayesian item parameters estimation and EAP estimation for theta. The property of invariance is discussed. Results show that estimation of theta is intrinsically biased, is constrained by the number of items and that it performs better when the number of items and the number of examinees increase. Furthermore, IRT parameters do not seem to perform better nor give more information than those used in classical test theory.
Impact of the Autophagy Machinery on Hepatitis C Virus Infection
Marlène Dreux,Francis V. Chisari
Viruses , 2011, DOI: 10.3390/v3081342
Abstract: Autophagy is a cellular process that catabolizes cytoplasmic components and maintains energy homeostasis. As a stress response, the autophagy machinery interconnects a wide range of cellular pathways, enhancing the spread of certain pathogens while limiting others, and has become a highly active research area over the past several years. Independent laboratories have recently reported that autophagy vesicles accumulate in hepatitis C virus (HCV) infected cells and that autophagy proteins can function as proviral factors required for HCV replication. In this review, we summarize what is currently known about the interplay between autophagy and HCV and the possible mechanisms whereby autophagy proteins might favor HCV propagation.
Inledning
Marléne Johansson,Mia Porko-Hudd
Techne Series : Research in Sloyd Education and Craft Science A , 2011,
Abstract: F religgande Technejournal Vetenskapliga perspektiv och metoder inom sl jdf ltet r det f rsta numret av den nya elektroniska Techne Serien. Samma Techne trycks ven i pappersformat, dvs. artikelsamlingen ges ut ”b de och”. Technejournalen inneh ller 18 artiklar inom temat perspektiv, metod, analys och dokumentation inom sl jdpedagogisk forskning. Marléne Johansson och Mia Porko-Hudd r temaredakt rer och har samordnat rapporteringen. URN:NBN:no-29952
REIGNY, Cartulaire du XIVe siècle
Marlène Hélias-Baron
Bulletin du Centre d’études Médiévales d’Auxerre , 2007, DOI: 10.4000/cem.2532
Abstract: L’abbaye de Reigny, installée dans le diocèse d’Auxerre, est caractéristique du renouveau monastique de la fin du XIe siècle et du début du siècle suivant. Aux origines, c’était un petit ermitage construit en 1104 au lieu-dit Fontemoy – c’est-à-dire Fons humidus - dans le diocèse d’Autun. A la fin des années 1120, comme de nombreux autres établissements érémitiques en difficulté, il s’affilie à l’ordre de C teaux par l’intermédiaire de Clairvaux. En 1134, sous la direction du nouvel abbé, Eti...
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