Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

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