Concepedia

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report

Kunka Kamenarova, Emil Simeonov, R. Tzveova, Daniela Dacheva, Marin Penkov, Ivo Kremensky, Penka Perenovska, Vanio Mitev, Radka Kaneva

Human Pathology · 2015 · 10 citations · 16 references

DOI

Concepts

References

16

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

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CBP/p300 in cell growth, transformation, and development

Richard H. Goodman, Sarah M. Smolik · Genes & Development · 2000 · 1.8K citations · Full text

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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel et al. · The American Journal of Human Genetics · 2012 · 187 citations · Full text

, , +4

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

Daniela Rusconi, Gloria Negri, Patrizia Colapietro et al. · Human Genetics · 2015 · 88 citations

, , +7

Chromosomal anomalies in patients with retinoblastoma

Miriam G. Wilson, Allan J. Ebbin, Joseph W. Towner et al. · Clinical Genetics · 1977 · 87 citations

, , +15