Search results for "Stein-"
showing 10 items of 77 documents
Inheritance and variable expression in Rubinstein-Taybi syndrome.
2010
Familial Rubinstein-Taybi syndrome (RTS) is very rare. Here we report on the 6th and 7th case of inherited RTS. Family 1 presents with incomplete or mild RTS over three generations; a 13-year-old girl (proband 1) with mild but typical facial features and learning disabilities, her very mildly affected mother (proband 2), and the maternal grandmother (proband 3). Family 2 includes three females with classical RTS (probands 4-6) and their father (proband 7) with broad thumbs and halluces. Proband 5 also had a brain tumor (ganglioglioma) at the age of 3 years. In probands 1-3, direct sequencing identified a novel CREBBP missense mutation, c.2728A > G (predicting p.Thr910Ala), that was absent i…
Analisi MLPA del gene CREB-binding protein (CREBBP) in un paziente con la sindrome di Rubinstein Taybi
2012
La sindrome di Rubinstein-Taybi è una rara malattia congenita autosomica dominante caratterizzata da ritardo della crescita postnatale, ritardo dello sviluppo psicomotorio, anomalie scheletriche, peculiare morfologia facciale ed un aumento del rischio oncogeno. La prevalenza alla nascita è 1 su 125.000 nati vivi. La malattia può essere associata a mutazioni nel gene che codifica per la proteina CREB-binding localizzato nella regione cromosomica 16p13.3. Recenti studi hanno dimostrato che pazienti con quoziente intellettivo basso e tratti autistici possono avere grandi delezioni. Sulla base di queste osservazioni, abbiamo usato la Multiplex Ligation-dependent Probe Amplification (MLPA) per r…
Rubinstein-Taybi syndrome (CREBBP, EP300)
2011
1.2 OMIM# of the disease180849.1.3 Name of the analyzed genes or DNA/chromosome segmentsCREBBP, EP300 (E1A binding protein p300).1.4 OMIM# of the genes600140 (CREBBP), 602700 (EP300).1.5 Mutational spectrumMainly frameshift, nonsense, splice site and missense mutations. Lessfrequently large deletions (one or more exons) and rarely balancedinversions and translocations. Mutations are heterozygous, and mosaicmutations have been described. At present, more than 100 pathogenicmutations are known for the two genes together, but mutations inEP300 are much less common (only 11 so far).
Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication
2019
The Global Side of the Investments-Savings Puzzle
2008
In this paper we re-examine the long standing and puzzling correlation between national savings and investment in industrial countries. We apply an econometric methodology that allows us to separate idiosyncratic correlation at the country level from correlation at the global level. In a major break with the existing literature, we find no evidence of a long run relationship in the idiosyncratic components of savings and investment. We also find that the global components in savings and investments commove, indicating that they react to shocks of a global nature.
Coinfection of Helicobacter pylori and Epstein-Barr virus in patients with gastric disease in Southern Italy
Helicobacter pylori
Cross-Commodity Spot Price Modeling with Stochastic Volatility and Leverage For Energy Markets
2013
Spot prices in energy markets exhibit special features, such as price spikes, mean reversion, stochastic volatility, inverse leverage effect, and dependencies between the commodities. In this paper a multivariate stochastic volatility model is introduced which captures these features. The second-order structure and stationarity of the model are analyzed in detail. A simulation method for Monte Carlo generation of price paths is introduced and a numerical example is presented.
Einstein-Smoluchowsky equation handled by complex fractional moments
2014
In this paper the response of a non linear half oscillator driven by α-stable white noise in terms of probability density function (PDF) is investigated. The evolution of the PDF of such a system is ruled by the so called Einstein-Smoluchowsky equation involving, in the diffusive term, the Riesz fractional derivative. The solution is obtained by the use of complex fractional moments of the PDF, calculated with the aid of Mellin transform operator. It is shown that solution can be found for various values of stability index α and for any nonlinear function of the drift term in the stochastic differential equation.
Noise contribution to resonance phenomena and information propagation in non linear electronic networks
2015
This manuscript presents research aiming to show possible positive effects of deterministic and stochastic perturbations on the responses of different nonlinear systems. To that end, both numerical and experimental studies were carried out on two kinds of structures : an elementary electronic FitzHugh-Nagumo oscillator and an electrical line developed by resistively coupling 45 elementary cells. In the first section, the elementary cell characterization was undertaken in a deterministic regime. In the presence of a bichromatic stimulus, it is shown that when the low frequency component is subthreshold, its detection can be maximized for an optimal magnitude of the second component thanks to…
PARAMETER ESTIMATION FOR FRACTIONAL ORNSTEIN-UHLENBECK PROCESSES: NON-ERGODIC CASE
2011
We consider the parameter estimation problem for the non-ergodic fractional Ornstein-Uhlenbeck process defined as $dX_t=\theta X_tdt+dB_t,\ t\geq0$, with a parameter $\theta>0$, where $B$ is a fractional Brownian motion of Hurst index $H\in(1/2,1)$. We study the consistency and the asymptotic distributions of the least squares estimator $\hat{\theta}_t$ of $\theta$ based on the observation $\{X_s,\ s\in[0,t]\}$ as $t\rightarrow\infty$.