JoannaKStaceyMD

PubMed

• UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
  Turner, J. J., Stacey, J. M., Harding, B., Kotanko, P., Lhotta, K., Puig, J. G., Roberts, I., Torres, R. J., Thakker, R. V.> ;J Clin Endocrinol Metab. 2003 Mar
• Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2.
  Grigorieva, I. V., Mirczuk, S., Gaynor, K. U., Nesbit, M. A., Grigorieva, E. F., Wei, Q., Ali, A., Fairclough, R. J., Stacey, J. M., Stechman, M. J., Mihai, R., Kurek,...> ;J Clin Invest. 2010 Jun
• Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-relat...
  Hannan, F. M., Nesbit, M. A., Turner, J. J., Stacey, J. M., Cianferotti, L., Christie, P. T., Conigrave, A. D., Whyte, M. P., Thakker, R. V.> ;Eur J Hum Genet. 2010 Apr 01
• Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.
  Stacey, J. M., Turner, J. J., Harding, B., Nesbit, M. A., Kotanko, P., Lhotta, K., Puig, J. G., Torres, R. J., Thakker, R. V.> ;J Clin Endocrinol Metab. 2003 Jan
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