Search results for "SAGE"
showing 10 items of 1373 documents
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein…
2013
Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encoding the cAMP response element-binding protein (CREB, also known as CREBBP or CBP) on chromosome 16p13.3 have been identified. In addition, some patients with low intelligence quotients and autistic features bear large deletions. Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. We identified a novel heterozygote dele…
Carrier screening for spinal muscular atrophy in Italian population
2014
Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy. The responsible survival motor neuron gene (SMN1; HGNC: 11117) is localized in 5q11.2-13.3. Screening for carriers of SMA is necessary for effective clinical/prenatal diagnosis and genetic counselling. In this study, the copy number of SMN1 gene was determined from a southern Italian population to estimate carrier frequency. This is the first report addressing the estimation of SMA carrier frequency in an Italian population. Our results show that the SMA carrier …
THE EFFECT OF GADOLINIUM ON THE ESR RESPONSE OF ALANINE AND AMMONIUM TARTRATE EXPOSED TO THERMAL NEUTRONS
2008
Many efforts have been made to develop neutron capture therapy (NCT) for cancer treatment. Among the challenges in using NCT is the characterization of the features of the mixed radiation field and of its components. In this study, we examined the enhancement of the ESR response of pellets of alanine and ammonium tartrate with gadolinium oxide exposed to a thermal neutron beam. In particular, the ESR response of these dosimeters as a function of the gadolinium content inside the dosimeter was analyzed. We found that the addition of gadolinium improves the sensitivity of both alanine and ammonium tartrate. However, the use of gadolinium involves a reduces in or abolishes tissue equivalence b…
Keen on Massage: The Finnish Way to Olympic Success in the Twentieth Century
2019
AbstractIn Finland masseurs have had an appreciated role in sports even if there has not been affirmative evidence on the benefits of massage on sports performance. Traditionally in the Finnish cou...
Paysages sonores et littérature médiévale : fécondité et fragilité d’une rencontre
2015
Depuis son lancement dans les années 1970 par le compositeur canadien R. Murray Schafer, la notion de soundscape/paysage sonore a connu une diffusion aussi large qu’inespérée, s’immisçant dans des territoires aussi divers que la musicologie, l’anthropologie, l’ethnologie, la géographie, l’histoire évidemment, mais aussi l’écologie, l’urbanisme, l’architecture, voire le marketing. Le domaine de l’histoire est naturellement au premier plan, puisque la question du paysage sonore croise le vaste ...
Parallelized short read assembly of large genomes using de Bruijn graphs
2011
Abstract Background Next-generation sequencing technologies have given rise to the explosive increase in DNA sequencing throughput, and have promoted the recent development of de novo short read assemblers. However, existing assemblers require high execution times and a large amount of compute resources to assemble large genomes from quantities of short reads. Results We present PASHA, a parallelized short read assembler using de Bruijn graphs, which takes advantage of hybrid computing architectures consisting of both shared-memory multi-core CPUs and distributed-memory compute clusters to gain efficiency and scalability. Evaluation using three small-scale real paired-end datasets shows tha…
Meldingsovervåkning – en sikkerhet ved sending av elektroniske henvisninger : En kvantitativ studie om ulike faktorers påvirkning på meldingsovervåkn…
2018
Masteroppgave i helse- og sosialinformatikk HSI500 - Universitetet i Agder 2018 Using electronic messages is a necessary tool for healthcare providers to be able to perform their work more efficiently. Regarding this, it is very important to maintain an overview and control of the messages that is transmitted between the participants. In order to ensure that a business has procedures for handling application receipts related to electronic messaging, there is a regulatory requirement for how the business should perform this work, both organizational and technical. The purpose of this study is to gain insight into how doctor’s offices in Agder comply with the requirements imposed by the Norwe…
Idrarchia, resistenza marittima e la produzione della razza. Intervista a Marcus Rediker
2021
Marcus Rediker torna sul tema della tratta atlantica per discutere l’attualità della schiavitù quale costante nella storia e sviluppo del capitalismo. È sulle navi negriere durante il Middle Passage, «ancora ai margini della nostra coscienza moderna», che si produce la razza per come oggi la conosciamo, che si organizza l’accumulazione del capitale, che inizia a prender forma il capitalismo globale. Ma è nello stesso spazio atlantico che si costruisce la resistenza allo sfruttamento, la cooperazione radicale, la solidarietà conflittuale di schiavi ammutinati, marinai ribelli, fuggitivi e pirati. Il mare come luogo reale di comando e tensione al cambiamento, «come spazio delle principali tra…
Understand and optimize mental strategies during motor learning
2022
Motor imagery-based motor learning, also known as mental practice, can improve motor performance. However, questions remain concerning the mechanisms involved in mental practice, at the neurophysiological and behavioral levels. In a first study, we show an increase of short-interval intracortical inhibition during motor imagery, supporting the hypothesis that motor imagery induces the generation of an inhibited motor command. In a second study, we show modulations in functional connectivity between the cerebellum and the primary motor cortex following a mental practice session, corroborating at the neurophysiological level the hypothesis of the involvement and updating of internal models af…
Poetics of the "savage" : practice of tattooing in the modern world
2012
Ancient as it may be the popularity for tattoo does not seem to wane in the West. Indeed, we can find a great number of tattoo studios, exhibitions or magazines in our cities. The iconography of the brand seems to be the result of an amazing syncretism of which the "wild" imagery is an important part. Maori tattoos, Arabic calligraphy, dragons and wild animals, not from Western culture, are indeed very popular patterns. True mode of expressions of the skin, the ethnic tattoo indicates a certain view of the world, a view of the Other, as the path one chooses to follow in order to search for a "sense of self". Since the cabinets of curiosities of the sixteenth century, the Western world colle…