Dissertations / Theses on the topic 'Magerie'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 50 dissertations / theses for your research on the topic 'Magerie.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.
Madec, Sylvain. "Reconnaissance des lettres : contributions expérimentales en potentiels évoqués et imagerie par résonnance magnétique fonctionnelle." Thesis, Aix-Marseille, 2015. http://www.theses.fr/2015AIXM4748.
Full textThe aim of this thesis is to investigate visual perception processes involved in recognizing letters. Study 1 aims at determining the time window during which letters are discriminated. Our results linking event-related potentials (ERPs) and behavioral measures, indicate effects occurring around 100 ms and 220 ms on right occipital electrodes as reflecting visual processing, while we assume that an effect occurring around 170 ms on fronto-central electrodes might be functionally linked to the retrieval of letter names.Study 2 aims at determining until when, along the process of letter recognition, influences of visual processing are observed. We compare ERPs associated with nominally similar but visually dissimilar letters (by varying the case of presentation), and our results indicate that visual influences are still active until around 300 ms. Study 3 aims at highlighting both the brain areas involved in the retrieval of letter names, as revealed by functional magnetic resonance imaging (fMRI), and the effects induced by this retrieval on ERPs. We use a learning paradigm of unknown visual symbols, in which we induce a gradation in the ability of participants to retrieve the name of these symbols. The gradation is used as a marker of the retrieval of the symbols’ names, both on ERPs and fMRI. We demonstrate that the induced gradation co-varies with ERPs at around 200 ms, and with fMRI signals on left fusiform gyrus and left temporal areas
Chatelée, Vincent. "Développement d'un système d'imagerie microonde multistatique ultra large bande : application à la détection d'objets en régime temporel et fréquentiel." Phd thesis, Université de Nice Sophia-Antipolis, 2006. http://tel.archives-ouvertes.fr/tel-00696606.
Full textRiesch, Christian [Verfasser], Robert [Akademischer Betreuer] Magerle, Robert [Gutachter] Magerle, and Günter [Gutachter] Radons. "Non-equilibrium dynamics in ordered modulated phases / Christian Riesch ; Gutachter: Robert Magerle, Günter Radons ; Betreuer: Robert Magerle." Chemnitz : Universitätsbibliothek Chemnitz, 2015. http://d-nb.info/1213813395/34.
Full textTong, Xiao. "Recalage d'image de la tomographie optique diffuse de fluorescence (fDOT) et la tomographie par émission de positons (TEP) et le développement de tomographie optique en multi-angle." Phd thesis, Université Paris Sud - Paris XI, 2012. http://tel.archives-ouvertes.fr/tel-00795178.
Full textSpitzner, Eike-Christian [Verfasser], Robert [Akademischer Betreuer] Magerle, Robert [Gutachter] Magerle, and Borczyskowski Christian [Gutachter] von. "Subsurface and MUSIC-Mode Atomic Force Microscopy / Eike-Christian Spitzner ; Gutachter: Robert Magerle, Christian von Borczyskowski ; Betreuer: Robert Magerle." Chemnitz : Universitätsbibliothek Chemnitz, 2012. http://d-nb.info/1214244254/34.
Full textNeumann, Martin [Verfasser], Robert [Akademischer Betreuer] Magerle, Robert [Gutachter] Magerle, and Borczyskowski Christian [Gutachter] von. "Time-resolved imaging of the micro-mechanical behavior of elastomeric polypropylene / Martin Neumann ; Gutachter: Robert Magerle, Christian von Borczyskowski ; Betreuer: Robert Magerle." Chemnitz : Universitätsbibliothek Chemnitz, 2015. http://d-nb.info/121381376X/34.
Full textDehnert, Martin [Verfasser], Robert [Akademischer Betreuer] Magerle, Robert [Gutachter] Magerle, and Christoph [Gutachter] Tegenkamp. "3D-Tiefenprofile der Wechselwirkung zwischen einer AFM-Spitze und weichen polymeren Materialien / Martin Dehnert ; Gutachter: Robert Magerle, Christoph Tegenkamp ; Betreuer: Robert Magerle." Chemnitz : Technische Universität Chemnitz, 2018. http://d-nb.info/1214820549/34.
Full textKumar, Vishant. "Fragmentation dynamics and geometrical arrangement of diatomic molecular clusters." Thesis, Normandie, 2019. http://www.theses.fr/2019NORMC245.
Full textThe analysis of a kinematically complete ion-cluster collision experiment provides insight in the dynamics of the ionized cluster dissociation. The gas phase targets allow to study the cluster in a simple environment and to determine their intrinsic properties for further condensed states. Small van der Waals clusters of N2 and CO are produced in the supersonic expansion of a gas jet and irradiated by a low energy highly charged ion beam produced by the ARIBE/GANIL facility. Using our experimental set-up COLTRIMS (COLd Target Recoil Ion Momentum Spectroscopy) it is made possible to measure in coincidence the 3-D momentum vectors of the charged fragments resulting from the collision. We have performed experiment to investigate the fragmentation dynamics and geometry of N2 and CO dimers and trimers using a projectile beam Ar9+ with the 15 qkeV energy. Following multiple electron capture, the target undergoes two or three body dissociation. For three body channels, two distinct processes have been identified in which the van der Waals and covalent bond breaks either simultaneously or sequentially. Additionally, the Coulomb explosion imaging technique has been used to determine the three dimensional structure of the N2 and CO molecular dimers and trimers. We found that the N2 and CO molecules sit perpendicularly to the dimer axis in a planar (H) or non-planar (X) configuration and that (N2)3 and (CO)3 trimers exhibit an equilateral triangular geometry
Gerth, Stefan [Verfasser], Andreas [Akademischer Betreuer] Magerl, and Andreas [Gutachter] Magerl. "Stabilität adsorbierter Polymerschichten an Grenzflächen / Stefan Gerth ; Gutachter: Andreas Magerl ; Betreuer: Andreas Magerl." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2018. http://d-nb.info/1163806870/34.
Full textTaylor, Lisa. "Behavioural phenotype of Smith-Magenis syndrome." Thesis, University of Birmingham, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.435388.
Full textStruthers, Jennifer Leigh. "Molecular screening for Smith-Magenis syndrome." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2001. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp05/MQ65646.pdf.
Full textMathon, Julien. "Développement de nouveaux outils algorithmiques et technologiques pour l'étude du mouvement des chromosomes dans la levure S. Cerevisiae." Phd thesis, Toulouse 3, 2013. http://thesesups.ups-tlse.fr/2145/.
Full textThe development of genetic engineering and fluorescence microscopy of the yeast S. Cerevisiae has recently allowed to investigate the folding and the dynamics of chromosomes in living cells. Chromosome biophysics has now emerged as a new cross-disciplinary field of research, aiming to elucidate the function of chromosomes with physical models. Our goal was to set up original tools to monitor chromosome dynamics in living cells. This research involves the development of high speed live cell fluorescence microscopy assays, automated tracking and image analysis softwares, and analytical models of experimental measurements. We demonstrate the successfull optimization of our data acquisition process flow with novel hardware and software developments, and provide a new model of the dynamics chromosome in living Saccharomyces Cerevisiae
Ullmann, Robert [Verfasser], Werner A. [Akademischer Betreuer] Goedel, and Robert [Gutachter] Magerle. "Oberflächenfunktionalisierung von Poly(dimethyl)siloxan / Robert Ullmann ; Gutachter: Robert Magerle ; Betreuer: Werner A. Goedel." Chemnitz : Universitätsbibliothek Chemnitz, 2013. http://d-nb.info/1214245188/34.
Full textTong, Xiao. "Co-registration of fluorescence diffuse optical tomography (fDOT) with Positron emission tomography (PET) and development of multi-angle fDOT." Thesis, Paris 11, 2012. http://www.theses.fr/2012PA112251/document.
Full textThis thesis concerns the image processing of fluorescence diffuse optical tomography (fDOT), following two axes: FDOT image co-registration with PET (positron emission tomography) image and improvement of fDOT image reconstructions using mirrors to collect additional projections. It is presented in two parts:In the first part, an automatic method to co-register the fDOT images with PET images has been developed to correlate all the information from each modality. This co-registration method is based on automatic detection of fiducial markers (FM) present in both modalities. The particularity of this method is the use of optical surface image obtained in fDOT imaging system, which serves to identify the Z position of FM in optical images. We tested this method on a model of mice bearing tumor xenografts of MEN2A cancer cells that mimic a human medullary thyroid carcinoma, after a double injection of radiotracer [18F] 2-fluoro-2-Deoxy-D-glucose ( FDG) for PET imaging and optical fluorescent infrared tracer Sentidye. With the accuracy of our method, we can demonstrate that the signal of Sentidye is present both in the tumor and surrounding vessels.The fDOT reconstruction image quality is degraded along the Z axis due to a limited number of projections for reconstruction. In the second part, the work is oriented towards a new method of fDOT image reconstruction with a new multi-angle data acquisition system in placing two mirrors on each side of the animal. This work was conducted in collaboration with the CS Department of University College London (UCL), a partner of the European project FMT-XCT. TOAST software developed by this team was used as source code for the reconstruction algorithm, and was modified to adapt to the concerned problem. After several tests on the adjustment of program parameters, we applied this method on a phantom that simulating the biological tissue and on mice. The results showed an improvement in the reconstructed image of a semi-cylindrical phantom and the image of mouse kidney, for which the reconstruction of the mirrors geometry is better than that of conventional geometry without mirror. Nevertheless, we observed that the results were very sensitive to certain parameters, where the performance of reconstruction varies from one case to another. Future prospectives concern the optimization of parameters in order to generalize the multi-angle approach
Vieira, Gustavo Henrique [UNESP]. "Análise molecular de pacientes com síndromes de Smith-Magenis." Universidade Estadual Paulista (UNESP), 2011. http://hdl.handle.net/11449/102693.
Full textCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
A síndrome de Smith-Magenis (SMS) foi descrita , em 1986, como uma síndrome que envolvia uma mutação na região 17p em 9 pacientes. Sua prevalência esta estimada em um caso a cada 25.000 nascidos vivos. A SMS apresenta fenótipo que inclui características físicas, no desenvolvimento e comportamentais. Os sinais faciais se caracterizam por uma face larga e de forma quadrangular, braquicefalia, frontal proeminente, sinofre, fendas palpebrais alongadas para cima, ponte nasal larga, hipoplasia de face média, nariz largo e achatado, micrognatia na infância com relativa prognatia com a idade e lábio superior protruso e em „v‟ invertido. Os sinais clínicos mais importantes na SMS são comportamentais que levam a autoagressão, hiperatividade e déficit atenção. Foram estudados 31 pacientes brasileiros com suspeita diagnóstica de SMS. As análises genéticas realizadas para avaliar este grupo incluíram técnicas de citogenética molecular (FISH), aCGH, PCR quantitativa e busca por mutações na região de transcrição do gene RAI1. Os resultados demostraram que mais de 90% dos casos neste estudo tinham deficiência mental, atraso no desenvolvimento da fala e comportamento de auto-injúria. Além disso, 30% (9/30) tiveram deleção ou mutação de ponto na região 17p11.2 e RAI1 gene, sendo que 67% apresentaram uma deleção clássica (6/9), 11% tinham uma deleção atípica (1/9) e 22% (2/9) tinham uma mutação no gene RAI1. Foi possível determinar o ponto de quebra das deleções observadas e determinar os genes envolvidos. A deleção atípica descrita neste trabalho atingiu parte do gene RAI e até o momento não havia sido descrita. Além disso, duas mutações de ponto, no exon 3 do gene foram descritas. Por fim, dentro grupo estudado, foi diagnosticado um caso com síndrome da deleção 1p36, sendo possível a sugestão de um novo...
The Smith-Magenis syndrome (SMS) was described in 1986 as a syndrome involving a deletion in the 17p region in 9 patients. Its prevalence is estimated at one case per 25.000 live births. The SMS has phenotype that includes physical and behavioral development. The facial features are characterized by brachycephaly, midface hypoplasia, relative prognatism, everted, tented upper lip and deep-set, close-spaced eyes. The most important clinical features in SMS are leading behavioral self-injury, hyperactivity and attention deficit. We studied 31 Brazilian patients with suggested diagnostic to SMS. The genetic analysis performed to evaluate this group included molecular cytogenetic techniques (FISH), aCGH, quantitative PCR and the search for mutations in the gene transcription RAI1. Results showed that over 90% of the cases in this study had intellectual disability, delayed speech-language development, and self-injurious behavior. Furthermore, 30% had deletion or point mutation in the 17p11.2 region and RAI1 gene. Within this group, we found that 67% carried a classic deletion, 11% had an atypical deletion and 22% had a mutation in the RAI1 gene. It was possible to determine the breakpoint of the deletions observed and to determine the genes involved. The atypical deletion described reached part of the gene RAI1 and to date had not been described. In addition, two point mutations in exon 3 gene have been described. Finally, in this study group, one case was diagnosed with 1p36 deletion syndrome hinting of a possible new Differential Diagnosis for SMS. These findings add information for the etiology of SMS and may facilitate the development of new diagnostic tools, including FISH probes and sequencing-based screening for mutations.
Wilde, Lucy Victoria. "The behavioural and cognitive phenotype of Smith-Magenis syndrome." Thesis, University of Birmingham, 2012. http://etheses.bham.ac.uk//id/eprint/3698/.
Full textVieira, Gustavo Henrique. "Análise molecular de pacientes com síndromes de Smith-Magenis /." Botucatu : [s.n.], 2011. http://hdl.handle.net/11449/102693.
Full textCoorientador: Anand Kumar Srivastava
Banca: Angela Maria Vianna Morgante
Banca: Lucia Regina Martelli
Banca: Claudia Domingues Bonini
Resumo: A síndrome de Smith-Magenis (SMS) foi descrita , em 1986, como uma síndrome que envolvia uma mutação na região 17p em 9 pacientes. Sua prevalência esta estimada em um caso a cada 25.000 nascidos vivos. A SMS apresenta fenótipo que inclui características físicas, no desenvolvimento e comportamentais. Os sinais faciais se caracterizam por uma face larga e de forma quadrangular, braquicefalia, frontal proeminente, sinofre, fendas palpebrais alongadas para cima, ponte nasal larga, hipoplasia de face média, nariz largo e achatado, micrognatia na infância com relativa prognatia com a idade e lábio superior protruso e em „v‟ invertido. Os sinais clínicos mais importantes na SMS são comportamentais que levam a autoagressão, hiperatividade e déficit atenção. Foram estudados 31 pacientes brasileiros com suspeita diagnóstica de SMS. As análises genéticas realizadas para avaliar este grupo incluíram técnicas de citogenética molecular (FISH), aCGH, PCR quantitativa e busca por mutações na região de transcrição do gene RAI1. Os resultados demostraram que mais de 90% dos casos neste estudo tinham deficiência mental, atraso no desenvolvimento da fala e comportamento de auto-injúria. Além disso, 30% (9/30) tiveram deleção ou mutação de ponto na região 17p11.2 e RAI1 gene, sendo que 67% apresentaram uma deleção clássica (6/9), 11% tinham uma deleção atípica (1/9) e 22% (2/9) tinham uma mutação no gene RAI1. Foi possível determinar o ponto de quebra das deleções observadas e determinar os genes envolvidos. A deleção atípica descrita neste trabalho atingiu parte do gene RAI e até o momento não havia sido descrita. Além disso, duas mutações de ponto, no exon 3 do gene foram descritas. Por fim, dentro grupo estudado, foi diagnosticado um caso com síndrome da deleção 1p36, sendo possível a sugestão de um novo... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: The Smith-Magenis syndrome (SMS) was described in 1986 as a syndrome involving a deletion in the 17p region in 9 patients. Its prevalence is estimated at one case per 25.000 live births. The SMS has phenotype that includes physical and behavioral development. The facial features are characterized by brachycephaly, midface hypoplasia, relative prognatism, everted, "tented" upper lip and deep-set, close-spaced eyes. The most important clinical features in SMS are leading behavioral self-injury, hyperactivity and attention deficit. We studied 31 Brazilian patients with suggested diagnostic to SMS. The genetic analysis performed to evaluate this group included molecular cytogenetic techniques (FISH), aCGH, quantitative PCR and the search for mutations in the gene transcription RAI1. Results showed that over 90% of the cases in this study had intellectual disability, delayed speech-language development, and self-injurious behavior. Furthermore, 30% had deletion or point mutation in the 17p11.2 region and RAI1 gene. Within this group, we found that 67% carried a classic deletion, 11% had an atypical deletion and 22% had a mutation in the RAI1 gene. It was possible to determine the breakpoint of the deletions observed and to determine the genes involved. The atypical deletion described reached part of the gene RAI1 and to date had not been described. In addition, two point mutations in exon 3 gene have been described. Finally, in this study group, one case was diagnosed with 1p36 deletion syndrome hinting of a possible new Differential Diagnosis for SMS. These findings add information for the etiology of SMS and may facilitate the development of new diagnostic tools, including FISH probes and sequencing-based screening for mutations.
Doutor
Beck, Christian H. "Analyse der Stickoxidbildung in mageren Sprayflammen mit partieller Vorverdunstung." Berlin Logos-Verl, 2009. http://d-nb.info/997726849/04.
Full textHari, Jürg. "Hypophysen-Nebennieren-Achse bei fetten, stressresistenten und mageren, stressempfindlichen Schweinen /." [S.l.] : [s.n.], 1988. http://e-collection.ethbib.ethz.ch/show?type=diss&nr=8457.
Full textWebber, Carolyn. "Cognitive and behavioural characteristics of children with Smith-Magenis syndrome." Thesis, University of Leicester, 1999. http://hdl.handle.net/2381/31285.
Full textGamba, Bruno Faulin [UNESP]. "Estudo citogenético da região 17p11.2: a síndrome de Smith-Magenis." Universidade Estadual Paulista (UNESP), 2010. http://hdl.handle.net/11449/92443.
Full textCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
A síndrome de Smith-Magenis (SMS) é uma complexa anomalia caracterizada por atraso no desenvolvimento neuro-psico-motor (ADNPM), anomalias craniofaciais, esqueléticas e comportamentais. Dentre as anomalias destacamos braquicefalia, baixa estatura, distúrbio do sono, comportamentos de auto-injúria e movimentos estereotipados. SMS é causada por uma deleção intersticial do cromossomo 17(p11.2) ou mutação no gene RAI1, presente nesta região cromossômica. Sua prevalência é estimada em 1:25.000 nascidos vivos podendo chegar até 1:15.000. O diagnóstico clínico para SMS é confirmado pela técnica de citogenética molecular FISH. Neste trabalho realizamos estudo citogenético por bandamento GTG, GTG em alta resolução e FISH no total de 17 casos com suspeita clínica para SMS. Para realização de FISH foram utilizadas duas sondas comerciais da CYTOCELL ®, uma contendo o gene FU1 e outra o gene RAI1. Os resultados clínicos desta casuística comparados com a literatura internacional mostrou que embora fizemos algumas considerações, demonstramos a similaridade do diagnóstico clínico de SMS nos subgrupos SMS-del e SMS-like tanto brasileiros quanto da literatura. Os resultados citogenéticos do bandamento GTG revelaram que sete casos (7/17) apresentam deleção 17(p11.2) e o FISH confirmou a deleção tanto do gene FU1 como do gene RAI1 nos sete casos identificados. Este trabalho é de grande importância por tratar de uma afecção rara, pouco conhecida, e subdiagnosticada no Brasil. Assim destacamos que o uso de ficha clínica específica para SMS é importante para a definição da hipótese diagnóstica, 7/17 casos avaliados apresentaram deleção 17p11.2, e deleção dos genes...
Smith-Magenis syndrome (SMS) is a complex anomaly characterized by developmental delay (ADNPM), craniofacial anomalies, and behavioral disorders. Among the anomalies highlight brachycephaly, short stature, sleep disturbance, behavior of self-injury and stereotyped movements. SMS is caused by an interstitial deletion of chromosome 17 (p11.2) or mutation in the retinoic acid-induced 1 (RAI1) gene, present in this chromosomal region. Its prevalence is estimated at 1:25.000 live births and may reach up to 1:15.000. The c1inical diagnosis for SMS is confirmed by molecular cytogenetic technique of FISH. In this work we performed a cytogenetic study by GTG, GTG high resolution and FISH total of 17 cases with c1inical suspicion for SMS.To perform FISH probes were used two commercial CYTOCELL ®, one containing the FLl1 gene and another gene RAI1. The c1inical results in this series compared to the literature showed that although we made some considerations, we demonstrate the similarity of the clinical diagnosis of SMS in both sub-del SMS and SMS-like Brazilians and literature. The cytogenetic results of GTG banding revealed that seven cases (7 1 17) have deletion 17(p11.2) and FISH confirmed the deletion of both the FLl1 gene and the gene RAI1 the seven cases identified. This work is of great importance for treating arare, little known and under-diagnosed in Brazil. Thus we emphasize that the use of medical records specific to SMS is important to define the diagnosis, 7 117 cases showed stable 17p11.2 deletion, and deletion of genes FUI and RAI, no significant differences between the c1inicalfeatures of this sample group comparing it with the literature and this is about the largest sample of Brazilian SMS already described
Schäfer, Olaf. "Exerimentelle und numerische Analyse des Flammenrückschlags bei der mageren Vormischverbrennung." Berlin Logos-Verl, 2005. http://deposit.ddb.de/cgi-bin/dokserv?id=2695639&prov=M&dok_var=1&dok_ext=htm.
Full textGamba, Bruno Faulin. "Estudo citogenético da região 17p11.2 : a síndrome de Smith-Magenis /." Botucatu : [s.n.], 2010. http://hdl.handle.net/11449/92443.
Full textBanca: Rodrigo Affonseca Bressan
Banca: Antonia Paula Marques de Faria
Resumo: A síndrome de Smith-Magenis (SMS) é uma complexa anomalia caracterizada por atraso no desenvolvimento neuro-psico-motor (ADNPM), anomalias craniofaciais, esqueléticas e comportamentais. Dentre as anomalias destacamos braquicefalia, baixa estatura, distúrbio do sono, comportamentos de auto-injúria e movimentos estereotipados. SMS é causada por uma deleção intersticial do cromossomo 17(p11.2) ou mutação no gene RAI1, presente nesta região cromossômica. Sua prevalência é estimada em 1:25.000 nascidos vivos podendo chegar até 1:15.000. O diagnóstico clínico para SMS é confirmado pela técnica de citogenética molecular FISH. Neste trabalho realizamos estudo citogenético por bandamento GTG, GTG em alta resolução e FISH no total de 17 casos com suspeita clínica para SMS. Para realização de FISH foram utilizadas duas sondas comerciais da CYTOCELL ®, uma contendo o gene FU1 e outra o gene RAI1. Os resultados clínicos desta casuística comparados com a literatura internacional mostrou que embora fizemos algumas considerações, demonstramos a similaridade do diagnóstico clínico de SMS nos subgrupos SMS-del e SMS-like tanto brasileiros quanto da literatura. Os resultados citogenéticos do bandamento GTG revelaram que sete casos (7/17) apresentam deleção 17(p11.2) e o FISH confirmou a deleção tanto do gene FU1 como do gene RAI1 nos sete casos identificados. Este trabalho é de grande importância por tratar de uma afecção rara, pouco conhecida, e subdiagnosticada no Brasil. Assim destacamos que o uso de ficha clínica específica para SMS é importante para a definição da hipótese diagnóstica, 7/17 casos avaliados apresentaram deleção 17p11.2, e deleção dos genes... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: Smith-Magenis syndrome (SMS) is a complex anomaly characterized by developmental delay (ADNPM), craniofacial anomalies, and behavioral disorders. Among the anomalies highlight brachycephaly, short stature, sleep disturbance, behavior of self-injury and stereotyped movements. SMS is caused by an interstitial deletion of chromosome 17 (p11.2) or mutation in the retinoic acid-induced 1 (RAI1) gene, present in this chromosomal region. Its prevalence is estimated at 1:25.000 live births and may reach up to 1:15.000. The c1inical diagnosis for SMS is confirmed by molecular cytogenetic technique of FISH. In this work we performed a cytogenetic study by GTG, GTG high resolution and FISH total of 17 cases with c1inical suspicion for SMS.To perform FISH probes were used two commercial CYTOCELL ®, one containing the FLl1 gene and another gene RAI1. The c1inical results in this series compared to the literature showed that although we made some considerations, we demonstrate the similarity of the clinical diagnosis of SMS in both sub-del SMS and SMS-like Brazilians and literature. The cytogenetic results of GTG banding revealed that seven cases (7 1 17) have deletion 17(p11.2) and FISH confirmed the deletion of both the FLl1 gene and the gene RAI1 the seven cases identified. This work is of great importance for treating arare, little known and under-diagnosed in Brazil. Thus we emphasize that the use of medical records specific to SMS is important to define the diagnosis, 7 117 cases showed stable 17p11.2 deletion, and deletion of genes FUI and RAI, no significant differences between the c1inicalfeatures of this sample group comparing it with the literature and this is about the largest sample of Brazilian SMS already described
Mestre
Behrendt, Thomas. "Strömung und Verbrennung in einem neuen Düsenkonzept für die magere Vormischverbrennung in Fluggasturbinen : 26 Tabellen /." Köln : DLR, Bibliotheks- und Informationswesen, 2003. http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&doc_number=015380553&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA.
Full textMarinov, Svetoslav [Verfasser], and N. [Akademischer Betreuer] Zarzalis. "Untersuchung der Flammenstabilität von geometrisch ähnlichen Brennern für zukünftige magere Triebwerksbrennkammerkonzepte / Svetoslav Marinov. Betreuer: N. Zarzalis." Karlsruhe : KIT-Bibliothek, 2013. http://d-nb.info/1035451077/34.
Full textSchmitz, Ingo. "Magere vorgemischte Verbrennung von leichtem Heizöl in Mikrogasturbinen Grundlagen, Entwurf und experimentelle Untersuchung eines Brenner-, Brennkammersystems." Aachen Shaker, 2009. http://d-nb.info/994882971/04.
Full textSCIARRILLO, MARIA. "IDENTIFICATION OF NOVEL MECHANISMS FOR NEUROLOGICAL CONDITIONS OVERLAPPING SMITH-MAGENIS SYNDROME." Doctoral thesis, Università degli Studi di Milano, 2018. http://hdl.handle.net/2434/545630.
Full textGerth, Stefan [Verfasser], and Andreas [Akademischer Betreuer] Magerl. "Stabilität adsorbierter Polymerschichten an Grenzflächen / Stefan Gerth. Betreuer: Andreas Magerl." Erlangen : Universitätsbibliothek der Universität Erlangen-Nürnberg, 2013. http://d-nb.info/1030182329/34.
Full textGaray, Daniel Felipe Carnero, Antonio Carbajal Ramos Marcos, Jimmy Armas-Aguirre, and Juan Manuel Madrid Molina. "Information security risk management model for mitigating the impact on SMEs in Peru." IEEE Computer Society, 2020. http://hdl.handle.net/10757/656577.
Full textThis paper proposes an information security risk management model that allows mitigating the threats to which SMEs in Peru are exposed. According to studies by Ernst Young, 90% of companies in Peru are not prepared to detect security breaches, and 51% have already been attacked. In addition, according to Deloitte, only 10% of companies maintain risk management indicators. The model consists of 3 phases: 1. Inventory the information assets of the company, to conduct the risk analysis of each one; 2. Evaluate treatment that should be given to each risk, 3. Once the controls are implemented, design indicators to help monitor the implemented safeguards. The article focuses on the creation of a model that integrates a standard of risk management across the company with a standard of IS indicators to validate compliance, adding as a contribution the results of implementation in a specific environment. The proposed model was validated in a pharmaceutical SME in Lima, Peru. The results showed a 71% decrease in risk, after applying 15 monitoring and training controls, lowering the status from a critical level to an acceptable level between 1.5 and 2.3, according to the given assessment.
Revisión por pares
Henze, Thomas [Verfasser], Thomas [Akademischer Betreuer] Thurn-Albrecht, Steffen [Akademischer Betreuer] Trimper, and Robert [Akademischer Betreuer] Magerle. "Rasterkraftmikroskopische Untersuchungen an dünnen epitaktisch kristallisierten Filmen des Polyethylens / Thomas Henze. Betreuer: Thomas Thurn-Albrecht ; Steffen Trimper ; Robert Magerle." Halle, Saale : Universitäts- und Landesbibliothek Sachsen-Anhalt, 2011. http://d-nb.info/1025230531/34.
Full textFröbe, Melanie [Verfasser], Robert [Akademischer Betreuer] Magerle, and Borczyskowski Christian [Gutachter] von. "Untersuchung der Fluoreszenzlebensdauer von BODIPY-Farbstoffen in Polymerlösungen und Polymerschmelzen / Melanie Fröbe ; Gutachter: Christian von Borczyskowski ; Betreuer: Robert Magerle." Chemnitz : Universitätsbibliothek Chemnitz, 2016. http://d-nb.info/1214305555/34.
Full textSchmitz, Ingo [Verfasser]. "Magere vorgemischte Verbrennung von leichtem Heizöl in Mikrogasturbinen: Grundlagen, Entwurf und experimentelle Untersuchung eines Brenner-/Brennkammersystems / Ingo Schmitz." Aachen : Shaker, 2009. http://d-nb.info/1156518857/34.
Full textHough, Tanya M. "Differential reinforcement of other behavior (DRO) in an adult with Smith-Magenis Syndrome." Thesis, Kaplan University, 2013. http://pqdtopen.proquest.com/#viewpdf?dispub=1541043.
Full textThe effectiveness of differential reinforcement of other behavior (DRO) with an extinction component was evaluated with two target behaviors with an adult with Smith Magenis Syndrome (SMS) residing in the community who displayed elopement and physical aggression. The intervention included DRO using a fixed-time schedule of reinforcement, paired with extinction when elopement and physical aggression occurred. DRO was demonstrated to be effective in reducing the target behaviors of elopement and physical aggression, resulting in a 79% reduction of elopement and 100% decrease in physical aggression in the group home. Currently, there is a significant need for research using behavioral interventions to decrease challenging behaviors in adults diagnosed with SMS, as very little has been published on this topic.
Leona, Yslado Rocío Mería, and Rojas Rosario Melchora Yataco. "Gestión de riesgos basado en el PMBOK y el Magerit, para implantaciones de sistemas de planeamiento de recursos empresariales (ERP)." Bachelor's thesis, Universidad Nacional Mayor de San Marcos, 2012. https://hdl.handle.net/20.500.12672/12507.
Full textDetermina la gestión de riegos en cada fase de la implantación de un ERP que son determinantes para el éxito de la optimización e integración de los procesos de negocio, y que a su vez, permiten el logro del máximo rendimiento del sistema. El punto de partida es dar los lineamientos generales en las diferentes fases de la implantación, luego por cada fase se identifican los activos de información, las amenazas más potenciales, el impacto que puede derivar las amenazas, determinar los riesgos y finalmente se desarrollan planes de contingencia y estrategias que minimicen o prevengan los riesgos para poder garantizar la seguridad de los activos. Es muy importante para las empresas que opten por competir en flexibilidad, consistencia y calidad; conocer los riesgos asociados que afectan la implantación del ERP, en los aspectos de centralización, compromiso y liderazgo de la Alta Dirección, adaptación a medida del software, intercambio de información, tipo y esfuerzo de adaptación y accesibilidad de los datos. La gestión de los riesgos asociados es un factor clave para la exitosa implantación de un sistema ERP es por ello que se ha convertido en un punto de gran transcendencia para la Alta Dirección y las personas involucradas.
Trabajo de suficiencia profesional
Alemela, Panduranga Reddy. "Measurement and scaling of acoustic transfer matrices of premixed swirl flames /." München : Verl. Dr. Hut, 2009. http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&doc_number=018673544&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA.
Full textKettner, Maurice. "Experimentelle und numerische Untersuchungen zur Optimierung der Entflammung von mageren Gemischen bei Ottomotoren mit Direkteinspritzung." Berlin Logos-Verl, 2006. http://deposit.d-nb.de/cgi-bin/dokserv?id=2888451&prov=M&dok_var=1&dok_ext=htm.
Full textBrückner-Kalb, Jochen Robert. "Sub-ppm-NOx-Verbrennungsverfahren für Gasturbinen." München Verl. Dr. Hut, 2008. http://d-nb.info/990774945/04.
Full textAx, Holger [Verfasser], and Manfred [Akademischer Betreuer] Aigner. "Experimentelle Untersuchung magerer laminarer Niederdruckflammen mit periodisch variierender Gemischzusammensetzung / Holger Ax. Betreuer: Manfred Aigner." Stuttgart : Universitätsbibliothek der Universität Stuttgart, 2014. http://d-nb.info/1046564579/34.
Full textDAVION, CORINE. "A propos d'une observation de syndrome de smith-magenis (deletion 17 p 11. 2)." Lille 2, 1990. http://www.theses.fr/1990LIL2M005.
Full textMathon, Julien. "Développement de nouveaux outils algorithmiques et technologiques pour l'étude du mouvement des chromosomes dans la levure S. Cerevisiae." Phd thesis, Université Paul Sabatier - Toulouse III, 2013. http://tel.archives-ouvertes.fr/tel-00949331.
Full textSchob, Stefan [Verfasser], Ralph Gutachter] Meissner, and Hans [Gutachter] [Joosten. "Untersuchungen zum Erhalt des Lebensraumtyps „Magere Flachlandmähwiese“ auf Niedermoorgrünland im Naturpark Ohre - Drömling / Stefan Schob ; Gutachter: Ralph Meissner, Hans Joosten." Halle (Saale) : Universitäts- und Landesbibliothek Sachsen-Anhalt, 2018. http://nbn-resolving.de/urn:nbn:de:gbv:3:4-1981185920-324667.
Full textSchob, Stefan [Verfasser], Ralph [Gutachter] Meissner, and Hans [Gutachter] Joosten. "Untersuchungen zum Erhalt des Lebensraumtyps „Magere Flachlandmähwiese“ auf Niedermoorgrünland im Naturpark Ohre - Drömling / Stefan Schob ; Gutachter: Ralph Meissner, Hans Joosten." Halle (Saale) : Universitäts- und Landesbibliothek Sachsen-Anhalt, 2018. http://d-nb.info/1210730596/34.
Full textSchildmacher, Kai-Uwe. "Experimentelle Charakterisierung der Instabilitäten vorgemischter Flammen in Gasturbinen-Brennkammern." Berlin Logos-Verl, 2005. http://deposit.ddb.de/cgi-bin/dokserv?id=2671092&prov=M&dok_var=1&dok_ext=htm.
Full textBaumgärtel, Thomas [Verfasser], Borczyskowski Christian [Akademischer Betreuer] von, Borczyskowski Christian [Gutachter] von, and Robert [Gutachter] Magerle. "Binding and characterization of fluorescent nano-aggregates on structured surfaces / Thomas Baumgärtel ; Gutachter: Christian von Borczyskowski, Robert Magerle ; Betreuer: Christian von Borczyskowski." Chemnitz : Universitätsbibliothek Chemnitz, 2012. http://d-nb.info/1214244114/34.
Full textBergmann, Christoph [Verfasser], and Andreas [Akademischer Betreuer] Magerl. "Quantitative Analyse diffuser Röntgenstreuung an Sauerstoffnanopräzipitaten in Siliziumeinkristallen / Christoph Bergmann. Gutachter: Andreas Magerl." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2015. http://d-nb.info/1076912052/34.
Full textNyman, Lennart. ""Trumman magert altar är Kyrkonyckeln jag begär" : En kollektivbiografisk studie av Frihetstidens fältpräster." Thesis, Uppsala universitet, Kyrkohistoria, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-255521.
Full textBurns, Brooke. "Obesity, Adiposity, and Satiety in mouse models of Smith-Magenis Syndrome and dup(17)(p11.2) Syndrome." VCU Scholars Compass, 2009. http://scholarscompass.vcu.edu/etd/1802.
Full textFlores, Huamani Vladimir, and Rios Manuel Junior Chavez. "Modelo de gestión de riesgos de seguridad de TI para pymes del sector comercial que dependen de proveedores críticos." Bachelor's thesis, Universidad Peruana de Ciencias Aplicadas (UPC), 2020. http://hdl.handle.net/10757/652324.
Full textInformation security has become an important area as organizations daily manage valuable IT assets that depend on critical providers; such as: databases, services, applications, hardware, etc. These assets are subject to risks of a wide variety, such as: natural disasters, cyberattacks, fraud, etc. that can critically affect the organization. Studies carried out on organizations in Europe and USA reveal that SMEs are characterized by the lack of dedication necessary to IT security. This is mainly because information security is not part of their internal needs. In Peru, companies are not prepared to face risk situations, since most organizations lack security policies and risk assessment systems. This project proposes the development of an IT security risk management model that aims to increase the level of maturity and decrease the level of risk in the IT processes and assets of SMEs that depend on critical providers. This through a series of controls and security plans based on the Magerit methodology and security standards such as ISO / IEC 27001: 2013. With this, we seek to cover the main need identified in SMEs, which is to reduce the level of impact caused by the risks that affect IT assets and processes supported by third parties, and that may also have an adequate continuity plan.
Tesis
O'Connor, Michael Ben. "James Magee (1707-1791) and the Belfast print trade, 1771-1781." Thesis, Queen's University Belfast, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.479396.
Full textSchlegel, Andreas. "Experimentelle und numerische Untersuchung der NOx-Bildung bei der katalytisch stabilisierten und der nicht-katalysierten, mageren Vormischverbrennung /." [S.l.] : [s.n.], 1994. http://e-collection.ethbib.ethz.ch/show?type=diss&nr=10887.
Full text