نتایج جستجو برای: rubinstein taybi syndrome

تعداد نتایج: 622694  

Journal: :Neuron 2004
Kelsey C Martin Yi E Sun

Long-lasting memories are known to require new transcription. Recent studies have highlighted a role for epigenetic alterations, including histone acetylation, in regulating gene expression. In this issue of Neuron, Alarcón et al. and Korzus et al. use two different mouse models of Rubinstein-Taybi syndrome to elucidate a role for the histone acetyltransferase activity of CREB binding protein (...

Journal: :Revista brasileira de anestesiologia 2005
Carlos Rogério Degrandi Oliveira Luciana Elias

BACKGROUND AND OBJECTIVES Rubinstein-Taybi syndrome (RTS) is a genetic disease caused by mutation or deletion of chromosome 16, and characterized by growth and mental retardation, clubbing thumbs and toes and craniofacial abnormalities. There is little information about RTS in the anesthetic literature. This report aimed at describing the anesthetic management of a patient with Rubinstein-Taybi...

Journal: :Journal of autism and developmental disorders 2015
Jane Waite Joanna Moss Sarah R Beck Caroline Richards Lisa Nelson Kate Arron Cheryl Burbidge Katy Berg Chris Oliver

Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein-Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals reaching cut-off for autism spectrum disorder (N =...

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