Associated Papers
Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.
Zhao M et al.
Frontiers in Genetics, 2023
37152994 (PubMed )
Supplement: Table3.XLSX › Raw_data
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
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
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
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S et al.
Clinical Genetics, 2015
Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report.
Bedeschi MF et al.
American Journal of Medical Genetics. Part A, 2014
Select a paper to view details