Literature DB >> 22591219

New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.

K T Suzuki, L C Torres, S M M Sugayama, B da Costa Aguiar Alves, C A Moreira-Filho, M Carneiro-Sampaio.   

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Year:  2012        PMID： 22591219     DOI： 10.1111/j.1399-0004.2012.01894.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Epigenetic mechanisms of Rubinstein-Taybi syndrome.

Authors:  Elizabeth Park; Yunha Kim; Hyun Ryu; Neil W Kowall; Junghee Lee; Hoon Ryu
Journal:  Neuromolecular Med       Date:  2014-01-01       Impact factor: 3.843

Review 2.  Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders.

Authors:  Alberto J López; Marcelo A Wood
Journal:  Front Behav Neurosci       Date:  2015-04-23       Impact factor: 3.558

3.  New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Authors:  Virginia Pérez-Grijalba; Alberto García-Oguiza; María López; Judith Armstrong; Sixto García-Miñaur; Jose María Mesa-Latorre; Mar O'Callaghan; Mercé Pineda Marfa; Maria Antonia Ramos-Arroyo; Fernando Santos-Simarro; Verónica Seidel; Elena Domínguez-Garrido
Journal:  Mol Genet Genomic Med       Date:  2019-09-30       Impact factor: 2.183
  3 in total

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