Concepedia

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence

Monika Koudová, E Seemanová, Martin Zenker

European Journal of Medical Genetics · 2009 · 52 citations · 13 references

DOI

Concepts

References

13

Germline KRAS mutations cause Noonan syndrome

Suzanne Schubbert, Martin Zenker, Sara L. Rowe et al. · Nature Genetics · 2006 · 740 citations

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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 599 citations

, , +11

Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome

Pablo Rodriguez‐Viciana, Osamu Tetsu, William E. Tidyman et al. · Science · 2006 · 570 citations

, , +17

PTPN11 (Shp2) Mutations in LEOPARD Syndrome Have Dominant Negative, Not Activating, Effects

Maria Kontaridis, Kenneth D. Swanson, Frank David et al. · Journal of Biological Chemistry · 2005 · 332 citations · Full text

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Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Anna Sárközy, Claudio Carta, Sonia Moretti et al. · Human Mutation · 2009 · 305 citations

, , +17