Concepedia

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome

Oliver Bartsch, Sasan Rasi, Alicia Delicado, Sarah Dyack, Luitgard M. Neumann, E Seemanová, Marianne Volleth, Thomas Haaf, Vera M. Kalscheuer

Human Genetics · 2006 · 53 citations · 15 references

DOI

Concepts

References

15

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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Mutation of DNASE1 in people with systemic lupus erythematosus

Koji Yasutomo, Takahiko Horiuchi, Shoji Kagami et al. · Nature Genetics · 2001 · 588 citations

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Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek et al. · The American Journal of Human Genetics · 2005 · 478 citations · Full text

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The hsp90-related Protein TRAP1 Is a Mitochondrial Protein with Distinct Functional Properties

Sara J. Felts, Barbara Owen, Phuongmai Nguyen et al. · Journal of Biological Chemistry · 2000 · 373 citations · Full text

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Molecular Basis of Deficient IL-2 Production in T Cells from Patients with Systemic Lupus Erythematosus

Elena E. Solomou, Yuang‐Taung Juang, Mark F. Gourley et al. · The Journal of Immunology · 2001 · 201 citations

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