نتایج جستجو برای: rubinstein taybi syndrome

تعداد نتایج: 622694  

2015
Zachary Throckmorton

Zachary Throckmorton Lincoln Memorial University-DeBusk College of Osteopathic Medicine Department of Anatomy Abstract Background. The adduction of the first pedal ray in humans, such that the hallux is incapable of functional opposability, is a major feature of the evolution of the hominin foot (e.g. Darwin 1872, Haeckel 1879, Latimer and Lovejoy 1990). While hallucal adduction facilitates obl...

2013
N. N. Ganikhodjaev K. Bayram

In this paper we introduce and study random Cox-Ross-Rubinstein (CRR) model. The CRR model is a natural bridge, overture to continuous models for which it is possible to derive the Black Scholes option pricing formula. An attractive property of CRR model is that the binomial tree for geometric Brownian motion is consistent with the standard Black-Scholes formula for European options in that no ...

Journal: :Expert opinion on investigational drugs 2008
Eric Hahnen Jan Hauke Christian Tränkle Ilker Y Eyüpoglu Brunhilde Wirth Ingmar Blümcke

During the past six years numerous studies identified histone deacetylase (HDAC) inhibitors as candidate drugs for the treatment of neurodegenerative disorders. Two major neuroprotective mechanisms of HDAC inhibitors have been identified, namely the transcriptional activation of disease-modifying genes and the correction of perturbations in histone acetylation homeostasis, which have been shown...

Journal: :Molecular syndromology 2015
Koji Masuda Kazuhiro Akiyama Michiko Arakawa Eriko Nishi Noritaka Kitazawa Tsukasa Higuchi Yuki Katou Katsuhiko Shirahige Kosuke Izumi

Rubinstein-Taybi syndrome (RSTS) is a multisystem developmental disorder characterized by facial dysmorphisms, broad thumbs and halluces, growth retardation, and intellectual disability. In about 8% of RSTS cases, mutations are found in EP300. Previously, the EP300 mutation has been shown to cause the highly variable RSTS phenotype. Using exome sequencing, we identified a de novo EP300 frameshi...

Journal: :Learning & memory 2005
Marcelo A Wood Michael P Kaplan Alice Park Edward J Blanchard Ana M M Oliveira Thomas L Lombardi Ted Abel

Deletions, translocations, or point mutations in the CREB-binding protein (CBP) gene have been associated with Rubinstein-Taybi Syndrome; a human developmental disorder characterized by retarded growth and reduced mental function. To examine the role of CBP in memory, transgenic mice were generated in which the CaMKII alpha promoter drives expression of an inhibitory truncated CBP protein in fo...

2010
Dorothy V. M. Bishop

AIM There are substantial differences in the amount of research concerned with different disorders. This paper considers why. METHODS Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental dyslexia, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairmen...

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