Concepedia

Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

K. M. Sanggaard, Nanna Dahl Rendtorff, Klaus Kjaer, Hans Eiberg, Torsten Johnsen, Steen Gimsing, Jørgen Dyrmose, Kristian Otto Nielsen, Kasper Lage, Lisbeth Tranebjærg

European Journal of Human Genetics · 2007 · 73 citations · 27 references

DOI

Concepts

References

27

Analysis of Human Genetic Linkage.

A. W. F. Edwards, J Ott · Biometrics · 1992 · 1.7K citations

, , +17

Eya protein phosphatase activity regulates Six1–Dach–Eya transcriptional effects in mammalian organogenesis

Xue Li, Kenneth A. Ohgi, Jie Zhang et al. · Nature · 2003 · 638 citations

, , +10

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

Rainer Ruf, Pin‐Xian Xu, Derek Silvius et al. · Proceedings of the National Academy of Sciences · 2004 · 419 citations · Full text

, , +17

Cooperation of Six and Eya in Activation of Their Target Genes through Nuclear Translocation of Eya

Hiromi Ohto, Sayaka Kamada, Kenji Tago et al. · Molecular and Cellular Biology · 1999 · 359 citations

, , +17

A Family Study.

R Summerly, Edward M. Donaldson · British Journal of Dermatology · 1962 · 270 citations