Search results for " copy"
showing 10 items of 82 documents
Risk estimation in localized unresectable single copy MYCN neuroblastoma by the status of chromosomes 1p and 11q
2006
In localized neuroblastoma, the identification of patients requiring intensive treatment is still difficult. We retrospectively analyzed data of 280 single copy MYCN stage 2 and 3 neuroblastoma patients with gross residual tumor after initial surgery. The 3-year-event free survival of the total group was 83+/-2%, and 3-year-overall survival was 92+/-2%. Patients < or=1.5 years had a better outcome than older children. Deletions/imbalances of chromosome 1p were found in 9/90 patients and were associated with a higher event rate but not with a higher death rate. Aberrations of chromosome 11q in 14/91 patients were correlated with a higher event and death rate. Multivariate analysis identified…
Deafferentation and pointing with visual double-step perturbations
1999
The capability of reprogramming movement responses following changes in the visual goal has been studied through the double-step paradigm. These studies have shown that: (a) continuous internal feedback-loops correct unconsciously the dynamic errors throughout the movement; (b) proprioceptive information and/or the efference copy have a privileged status among central processes, insuring on-line regulation of the initial motor commands; and (c) generation of the motor program starts after target presentation, and is continuously updated in the direction of the current internal representation of the target, at least until the onset of hand movement. This main corrective process of the initia…
Two properties of Müntz spaces
2017
Abstract We show that Müntz spaces, as subspaces of C[0, 1], contain asymptotically isometric copies of c0 and that their dual spaces are octahedral.
Copying the Mate Choice of Others? Observations On Female Black Grouse
1990
Abstract It has been suggested that the non-random mating often observed in lekking species is a consequence of either male-male competition or active female mate choice. Here we show that the highly skewed mating distributions observed in a black grouse lek in three years were indeed different from random expectations. We suggest that females copying the mate choice of others enhance this skew. Observations in favour of copying are: females pay multiple visits to the lek during several days; females arrive and move in bands which makes it possible to observe the visits to male territories and matings of other females; in the main lek in the study area, males often mated in sequence indica…
Music and Action
2013
Music performance includes planning, initiation, execution, monitoring, and correction of actions. This makes music performance a valuable tool for the study of human action and its neural correlates. This chapter reports action-related processes evoked by the perception of actions, and processes of error correction during music performance. Neuroscientific studies showed that, during the perception of action, neural systems are active that are also active during the performance of such actions. This supports the "common coding principle" stating that the late stages of perception and the early stages of action share a common representational format (such as the same neural code). Studies o…
In light of the ends. Copyright hysteresis and private copy exception after the British Academy of Songwriters, Composers and Authors (BASCA) and oth…
2015
In British Academy of Songwriters, Composers and Authors (BASCA) and others v Secretary of State for Business, Innovation and Skills, the High Court of Justice in matter of private copy exception provides the twofold prime opportunity to shed light on the state of the art of copyright in the UK and to flesh out the idea of 'legal hysteresis’. I support the reintroduction of the private copy exception, possibly in a less narrow fashion, and I explain the reasons why I am confident that my expectations will be fulfilled.
An initial comparative map of copy number variations in the goat (Capra hircus) genome
2010
Abstract Background The goat (Capra hircus) represents one of the most important farm animal species. It is reared in all continents with an estimated world population of about 800 million of animals. Despite its importance, studies on the goat genome are still in their infancy compared to those in other farm animal species. Comparative mapping between cattle and goat showed only a few rearrangements in agreement with the similarity of chromosome banding. We carried out a cross species cattle-goat array comparative genome hybridization (aCGH) experiment in order to identify copy number variations (CNVs) in the goat genome analysing animals of different breeds (Saanen, Camosciata delle Alpi,…
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
2020
Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…
Complete 1H and 13C NMR assignments of clerodane diterpenoids of Salvia splendens.
2006
Unambiguous and complete assignments of 1H and 13C NMR chemical shifts for five clerodane diterpenes, four of them isolated from Salvia splendens (salviarin, splendidin and splenolides A and B) and one obtained by acetylation of splenolide A, are presented. The assignments are based on 2D shift-correlated [1H,1H–COSY, 1H,13C-gHSQC–1J(C,H) and 1H,13C-gHMBC-nJ(C,H) (n = 2 and 3)] and nuclear Overhauser effect (NOE) experiments. The conformation of the rings of these compounds is supported by the 3J(H,H) values and NOE results. Copyright © 2006 John Wiley & Sons, Ltd.
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of…
2022
Abstract Background Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynost…