Associated Papers
Missense Mutations in the KAT Domain of CREBBP Gene in Patients with Follicular Lymphoma: Implications for Differential Diagnosis and Prognosis.
Smolianinova A et al.
International Journal of Molecular Sciences, 2025
40725159 (PubMed )
Supplement: ijms-26-06913-s001.zip › ijms-3722294-supplementary.xlsx › 14-18_
Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.
Herms A et al.
Nature Genetics, 2024
39169259 (PubMed )
Supplement: 41588_2024_1891_MOESM6_ESM.xlsx › Fig_1a
Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.
Crouch S et al.
Blood Advances, 2022
35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV
The molecular ontogeny of follicular lymphoma: gene mutations succeeding the BCL2 translocation define common precursor cells.
Haebe S et al.
British Journal of Haematology, 2022
34967008 (PubMed )
Supplement: supplement_1.zip › bjh17990-sup-0001-Supinfo.pdf
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
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
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
Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.
Sharma N et al.
Journal of Biosciences, 2010
Rubinstein-Taybi syndrome: clinical and molecular overview.
Roelfsema JH et al.
Expert Reviews in Molecular Medicine, 2007
Aberrant forms of histone acetyltransferases in human disease.
Van Beekum O et al.
Sub-cellular Biochemistry, 2007
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
Bartsch O et al.
Human Genetics, 2005
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