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CBP Histone Acetyltransferase Activity Regulates Embryonic Neural Differentiation in the Normal and Rubinstein-Taybi Syndrome Brain
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CBP Histone Acetyltransferase Activity Regulates Embryonic Neural Differentiation in the Normal and Rubinstein-Taybi Syndrome Brain

Wang, Jing ; Weaver, Ian C.G ; Gauthier-Fisher, Andrée ; Wang, Haoran ; He, Ling ; Yeomans, John ; Wondisford, Frederic ; Kaplan, David R ; Miller, Freda D

Developmental cell, 2010-01, Vol.18 (1), p.114-125 [Rivista Peer Reviewed]

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Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish
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Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish

Babu, Aswini ; Kamaraj, Mageshi ; Basu, Moumita ; Mukherjee, Debanjan ; Kapoor, Shruti ; Ranjan, Shashi ; Swamy, Mahadeva M ; Kaypee, Stephanie ; Scaria, Vinod ; Kundu, Tapas K ; Sachidanandan, Chetana

Biochimica et biophysica acta. Molecular basis of disease, 2018-04, Vol.1864 (4), p.1203-1215 [Rivista Peer Reviewed]

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Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
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Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

Campeau, Philippe M ; Kim, Jaeseung C ; Lu, James T ; Schwartzentruber, Jeremy A ; Abdul-Rahman, Omar A ; Schlaubitz, Silke ; Murdock, David M ; Jiang, Ming-Ming ; Lammer, Edward J ; Enns, Gregory M ; Rhead, William J ; Rowland, Jon ; Robertson, Stephen P ; Cormier-Daire, Valérie ; Bainbridge, Matthew N ; Yang, Xiang-Jiao ; Gingras, Marie-Claude ; Gibbs, Richard A ; Rosenblatt, David S ; Majewski, Jacek ; Lee, Brendan H

American journal of human genetics, 2012-02-10, Vol.90 (2), p.282-289 [Rivista Peer Reviewed]

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Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
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Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

López, María ; García-Oguiza, Alberto ; Armstrong, Judith ; García-Cobaleda, Inmaculada ; García-Miñaur, Sixto ; Santos-Simarro, Fernando ; Seidel, Verónica ; Domínguez-Garrido, Elena

BMC medical genetics, 2018-03-05, Vol.19 (1), p.36-36 [Rivista Peer Reviewed]

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Chromatin Acetylation, Memory, and LTP Are Impaired in CBP +/− Mice : A Model for the Cognitive Deficit in Rubinstein-Taybi Syndrome and Its Amelioration
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Chromatin Acetylation, Memory, and LTP Are Impaired in CBP +/− Mice : A Model for the Cognitive Deficit in Rubinstein-Taybi Syndrome and Its Amelioration

Alarcón, Juan M ; Malleret, Gaël ; Touzani, Khalid ; Vronskaya, Svetlana ; Ishii, Shunsuke ; Kandel, Eric R ; Barco, Angel

Neuron (Cambridge, Mass.), 2004, Vol.42 (6), p.947-959 [Rivista Peer Reviewed]

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Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children
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Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

Tang, Hui ; Guo, Jing ; Linpeng, Siyuan ; Wu, Lingqian

Orphanet journal of rare diseases, 2019-02-15, Vol.14 (1), p.45-45 [Rivista Peer Reviewed]

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Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation
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Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation

Yoo, Hee Jeong ; Kim, Kyung ; Kim, In Hyang ; Rho, Seong-Hwan ; Park, Jong-Eun ; Lee, Ki Young ; Kim, Soon Ae ; Choi, Byung Yoon ; Kim, Namshin

International journal of molecular sciences, 2015-03-11, Vol.16 (3), p.5697-5713 [Rivista Peer Reviewed]

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Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation
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Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation

Tamhankar, Parag M ; Tamhankar, Parag M ; Merchant, Rashid ; Merchant, Rashid ; Shah, Ami ; Shah, Ami

Indian journal of pediatrics, 2016-05, Vol.83 (5), p.473-474 [Rivista Peer Reviewed]

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9
Inheritance and variable expression in Rubinstein–Taybi syndrome
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Inheritance and variable expression in Rubinstein–Taybi syndrome

Bartsch, Oliver ; Kress, Wolfram ; Kempf, Olga ; Lechno, Stanislav ; Haaf, Thomas ; Zechner, Ulrich

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2254-2261 [Rivista Peer Reviewed]

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10
Epigenetic Mechanisms of Rubinstein–Taybi Syndrome
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Epigenetic Mechanisms of Rubinstein–Taybi Syndrome

Park, Elizabeth ; Kim, Yunha ; Ryu, Hyun ; Kowall, Neil W ; Lee, Junghee ; Ryu, Hoon

Neuromolecular medicine, 2014-01-01, Vol.16 (1), p.16-24 [Rivista Peer Reviewed]

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