Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
出版年份 2015 全文链接
标题
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
作者
关键词
Intellectual Disability, Hallux Valgus, Congenital Heart Defect, Deletion Size, Contiguous Gene Syndrome
出版物
HUMAN GENETICS
Volume 134, Issue 6, Pages 613-626
出版商
Springer Nature
发表日期
2015-03-24
DOI
10.1007/s00439-015-1542-9
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities
- (2015) Jin Sook Lee et al. BRAIN & DEVELOPMENT
- Growth charts for individuals with Rubinstein-Taybi syndrome
- (2014) Lex Beets et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Insights into genotype-phenotype correlations fromCREBBPpoint mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients
- (2014) S. Spena et al. CLINICAL GENETICS
- Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene
- (2014) G. Negri et al. CLINICAL GENETICS
- Epigenetic Mechanisms of Rubinstein–Taybi Syndrome
- (2013) Elizabeth Park et al. NEUROMOLECULAR MEDICINE
- A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein–Taybi syndrome
- (2012) Angeline H.M. Lai et al. GENE
- Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome
- (2011) J P Lopez-Atalaya et al. JOURNAL OF MEDICAL GENETICS
- Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene
- (2010) B. Isidor et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?
- (2010) Cezary Wójcik et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH
- (2010) Anne Chun-Hui Tsai et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant
- (2010) Maurice P Zeegers et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
- (2010) Neeti Sharma et al. JOURNAL OF BIOSCIENCES
- Further case of Rubinstein-Taybi syndrome due to a deletion in EP300
- (2009) Patricia Foley et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genotype-phenotype correlations in Rubinstein-Taybi syndrome
- (2008) E.K. Schorry et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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