Associated Papers
Immunogenomics of Colorectal Cancer Response to Checkpoint Blockade: Analysis of the KEYNOTE 177 Trial and Validation Cohorts.
Bortolomeazzi M et al.
Gastroenterology, 2021
34197832 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_3
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J et al.
Genes, 2021
34202860 (PubMed )
Supplement: genes-12-00968-s001.zip › genes-1248377-supplementary.pdf
Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.
Alari V et al.
International Journal of Molecular Sciences, 2021
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation.
Calzari L et al.
Molecular Neurobiology, 2020
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.
Aleo S et al.
Frontiers in Cell and Developmental Biology, 2020
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.
Alari V et al.
Stem Cell Research, 2019
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
Alari V et al.
Stem Cell Research, 2018
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
Yoo HJ et al.
International Journal of Molecular Sciences, 2015
25768348 (PubMed )
Supplement: ijms-16-05697-s001.pdf
Rubinstein-Taybi syndrome: clinical and molecular overview.
Roelfsema JH et al.
Expert Reviews in Molecular Medicine, 2007
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
Bentivegna A et al.
Bmc Medical Genetics, 2006
Select a paper to view details