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Scholar Results 1 - 10 of 12 citing Bartholdi: Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype.... (0.09 sec) 

Transgenic mice expressing an inhibitory truncated form of p300 exhibit long-term memory …

- cshlp.org
AMM Oliveira, MA Wood, CB McDonough, T … - Learning & Memory, 2007 - learnmem.cshlp.org
The formation of many forms of long-term memory requires several molecular
mechanisms including regulation of gene expression. The mechanisms directing
transcription require not only activation of individual transcription ...
Cited by 17 - Related articles - BL Direct - All 7 versions

Rubinstein–Taybi syndrome: clinical and molecular overview


JH Roelfsema, DJM Peters - Expert Reviews in Molecular Medicine, 2007 - Cambridge Univ Press
Rubinstein–Taybi syndrome is characterised by mental retardation, growth
retardation and a particular dysmorphology. The syndrome is rare, with a
frequency of approximately one affected individual in 100 000 newborns. ...
Cited by 8 - Related articles - All 2 versions

High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and …


C Gervasini, P Castronovo, A Bentivegna, F … - Genomics, 2007 - Elsevier
Rubinstein–Taybi syndrome (RSTS) is a rare malformation disorder caused by
mutations in the closely related CREBBP and EP300 genes, accounting respectively
for up to 60 and 3% of cases. About 10% of CREBBP mutations are whole gene ...
Cited by 5 - Related articles - All 2 versions

Genotype-phenotype correlations in Rubinstein-Taybi syndrome


EK Schorry, M Keddache, N Lanphear… - American Journal of Medical Genetics Part C: Seminars … - interscience.wiley.com
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Cited by 5 - Related articles - All 2 versions

Epigenetic dysregulation in cognitive disorders


J Gräff, IM Mansuy - European Journal of Neuroscience, 2009 - interscience.wiley.com
Epigenetic mechanisms are not only essential for biological functions requiring
stable molecular changes such as the establishment of cell identity and tissue
formation, they also constitute dynamic intracellular processes for ...
Cited by 1 - Related articles - All 3 versions

Further case of Rubinstein-Taybi syndrome due to a deletion in EP300


P Foley, D Bunyan, J Stratton, M Dillon, SA … - American journal of medical genetics. Part A, 2009 - interscience.wiley.com
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Cited by 1 - Related articles - All 2 versions

[CITATION] Genotype-phenotype correlations in Rubinstein-Taybi syndrome This manuscript is dedicated …


EK Schorry - American Journal of Medical Genetics Part A, 2008 - Wiley Subscription Services, Inc., A Wiley Company …
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Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis


DH Gutmann - Human Molecular Genetics - Oxford Univ Press
Supplementary material http://hmg.oxfordjournals.org/cgi/content/full/ddn194/DC1
Data supplements for this article are available at ... Reprints
http://www.oxfordjournals.org/corporate_services/reprints.html Reprints of ...
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Clinical and molecular overview of inherited disorders resulting from epigenomic …


A De Sario - European Journal of Medical Genetics, 2009 - Elsevier
Epigenetics is the study of heritable changes in gene expression that occur
without a change in the DNA sequence. Most constitutional defects in genes
encoding components of the machinery that regulates the epigenome lead to ...
Related articles - All 2 versions

Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis

- oxfordjournals.org
B Hegedus, TH Yeh, DY Lee, RJ Emnett, J Li … - Human Molecular Genetics, 2008 - Oxford Univ Press
To study the role of the neurofibromatosis-1 (NF1) gene in mammalian brain
development, we recently generated mice in which Nf1 gene inactivation occurs in
neuroglial progenitor cells using the brain lipid binding protein (BLBP) ...
Related articles - All 7 versions


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