PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Brain Research10.1016/j.brainres.2020.14714020201749147140Introduction of a de novo Creb-binding protein gene mutation in sperm to produce a Rubinstein-Taybi syndrome model using inbred C57BL/6 miceTsuyoshi Takagi, Yujiro Higashi, Masato Asai, Shunsuke Ishiihttps://api.elsevier.com/content/article/PII:S0006899320304984?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0006899320304984?httpAccept=text/plain
10.21203/rs.3.rs-110594/v12020New point mutation in CREBBP Gene cause Rubinstein-Taybi syndrome: A case reportDan Wang, Na Liu, Yunbin Xiao, Zhenyu Liao, Zhenghui Xiao, Zhi Chen, Xun Wanghttps://www.researchsquare.com/article/rs-110594/v1, https://www.researchsquare.com/article/rs-110594/v1.html
Korean Journal of Pediatrics10.3345/kjp.2010.53.6.7182010536718A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutationSe Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwanghttp://kjp.or.kr/upload/pdf/kjped-53-718.pdf
Congenital Anomalies10.1111/j.1741-4520.2005.00081.x2005454125-131Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatographyToru Udaka, Hazuki Samejima, Rika Kosaki, Kenji Kurosawa, Nobuhiko Okamoto, Seiji Mizuno, Yoshio Makita, Hironao Numabe, Joaquin Fernandez Toral, Takao Takahashi, Kenjiro Kosakihttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1741-4520.2005.00081.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1741-4520.2005.00081.x/fullpdf
10.21203/rs.3.rs-1566308/v12022A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndromeQian Wang, Cong Wang, Wen Bin Wei, Wei Ning Rong, Xiang Yu Shihttps://www.researchsquare.com/article/rs-1566308/v1, https://www.researchsquare.com/article/rs-1566308/v1.html
Encyclopedia of Genetics, Genomics, Proteomics and Informatics10.1007/978-1-4020-6754-9_1492620081745-1745Rubinstein Syndrome (Rubinstein-Taybi syndrome, RSTS, 16p13.3)http://link.springer.com/content/pdf/10.1007/978-1-4020-6754-9_14926
Acta Ophthalmologica Scandinavica10.1034/j.1600-0420.1998.760122.x1998761112-113Congenital glaucoma associated with Rubinstein-Taybi syndromeLuciano Quaranta, Carlo A. Quarantahttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1600-0420.1998.760122.x, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1600-0420.1998.760122.x, http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1600-0420.1998.760122.x/fullpdf
Acta Ophthalmologica10.1111/j.1755-3768.1969.tb05608.x200947133-38A CASE OF THE RUBINSTEIN-TAYBI SYNDROMEIENS FALBE-HANSENhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1755-3768.1969.tb05608.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1755-3768.1969.tb05608.x/fullpdf
American Journal of Medical Genetics10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z200090129-34Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndromeRuthann I. Blough, Fred Petrij, Johannes G. Dauwerse, Athena Milatovich-Cherry, Lester Weiss, Howard M. Saal, Jack H. Rubinsteinhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1096-8628(20000103)90:1%3C29::AID-AJMG6%3E3.0.CO;2-Z, https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1096-8628(20000103)90:1%3C29::AID-AJMG6%3E3.0.CO;2-Z
The Indian Journal of Pediatrics10.1007/s12098-015-1891-32015835473-474Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene MutationParag M. Tamhankar, Rashid Merchant, Ami Shahhttp://link.springer.com/content/pdf/10.1007/s12098-015-1891-3.pdf, http://link.springer.com/article/10.1007/s12098-015-1891-3/fulltext.html, http://link.springer.com/content/pdf/10.1007/s12098-015-1891-3