Search results for "Variations"

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

2019

Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. Results: The number of rare likely deleterious variants in functionally intolerant genes (“other hits”) correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with thei…

Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

2014

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions o…

Germline copy number variation in theYTHDC2gene: does it have a role in finding a novel potential molecular target involved in pancreatic adenocarcin…

2014

Abstract: Objective: The vast majority of pancreatic cancers occurs sporadically. The discovery of frequent variations in germline gene copy number can significantly influence the expression levels of genes that predispose to pancreatic adenocarcinoma. We prospectively investigated whether patients with sporadic pancreatic adenocarcinoma share specific gene copy number variations (CNVs) in their germline DNA. Patients and methods: DNA samples were analyzed from peripheral leukocytes from 72 patients with a diagnosis of sporadic pancreatic adenocarcinoma and from 60 controls using Affymetrix 500K array set. Multiplex ligation-dependent probe amplification (MLPA) assay was performed using a s…

Musica e architettura. Le opere di Igor Stravinsky per la basilica di San Marco a Venezia

2019

Il 13 settembre 1956, Stravinsky diresse nella basilica di San Marco a Venezia la prima esecuzione del "Canticum Sacrum" (1955), insieme con le "Variazioni-corali sulla canto natalizio Vom Himmel hoch…" (1955-56). Il "Canticum" era stato realizzato su commissione del Festival delle Biennale e costituisce un esempio dell'approccio del compositore alla tecnica dodecafonica. Le "Variazioni-corali" presentano quasi il medesimo organico del "Canticum" e sono invece da considerarsi come una sorta di ripensamento creativo delle "Variazioni canoniche" BWV 796-796a di Johann Sebastian Bach. September 13th 1956, Stravinsky conducted at the basilica of St. Mark in Venice the first performance of the "…

Diferenciālvienādojumi un variāciju rēķini, 1. daļa

1937

Diferenciālvienādojumi un variāciju rēķini, 2. daļa

1938

Variāciju rēķinu direktās metodes: maģistra darbs

1942

Optimality conditions for shakedown design of trusses

1995

This paper deals with optimal shakedown design of truss structures constituted by elastic perfectly plastic material. The design problem is formulated by means of a statical approach on the grounds of the shakedown lower bound theorem, and by means of a kinematical approach on the grounds of the shakedown upper bound theorem. In both cases two different types of design problem are formulated: one searches for the minimum volume design whose shakedown limit load is assigned; the other searches for the maximum shakedown limit load design whose volume is assigned. The Kuhn-Tucker equations of the four problems here above mentioned are found by utilizing a variational approach; these equations …

On Computational Properties of a Posteriori Error Estimates Based upon the Method of Duality Error Majorants

2004

In the present paper, we analyze computational properties of the functional type a posteriori error estimates that have been derived for elliptic type boundary-value problems by duality theory in calculus of variations. We are concerned with the ability of this type of a posteriori estimates to provide accurate upper bounds of global errors and properly indicate the distribution of local ones. These questions were analyzed on a series of boundary-value problems for linear elliptic operators of 2nd and 4th order. The theoretical results are confirmed by numerical tests in which the duality error majorant for the classical diffusion problem is compared with the standard error indicator used i…

Lower bounds for eigenvalues of a quadratic form relative to a positive quadratic form

1968

Abstract : A method is presented for the calculation of lower bounds to eigenvalues of operators that arise from variational problems for one quadratic form relative to a positive definite quadratic form. Eigenvalue problems of this kind occur, for example, in the theory of buckling of continuous linear elastic systems. The technique used is a modification of one introduced earlier, (1) sections II and IVB, for the determination of lower bounds to eigenvalues of semi-bounded self-adjoint operators. Other methods for the latter problem can be carried over without essential changes. The particular difficulty in the case we consider is that some operators which enter the calculation for the lo…