Concepedia

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

Oliver Bartsch, Annett Wagner, Georg Klaus Hinkel, Petra Krebs, Markus Stümm, Bernhard Schmalenberger, Sabine Böhm, Frank Majewski

European Journal of Human Genetics · 1999 · 97 citations · 19 references

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References

19

Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer

H. Telenius, Nigel P. Carter, Charlotte Bebb et al. · Genomics · 1992 · 1.4K citations

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Fred Petrif, Rachel H. Giles, Hans G. Dauwerse et al. · Nature · 1995 · 1.2K citations

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Report of the New England Regional Infant Cardiac Program

PEDIATRICS · 1980 · 731 citations

, , +8

Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism

Yuichi Oike · Human Molecular Genetics · 1999 · 310 citations · Full text

, , +15

Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling

Hiroshi Akimaru, Yang Chen, Ping Dai et al. · Nature · 1997 · 292 citations

, , +11