Nelly Pitteloud
Department of Medicine and Harvard Reproductive Endocrine Science Centers
Massachusetts General Hospital
Boston
MA 02114
USA
Name/email consistency: high
- Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Pitteloud, N., Zhang, C., Pignatelli, D., Li, J.D., Raivio, T., Cole, L.W., Plummer, L., Jacobson-Dickman, E.E., Mellon, P.L., Zhou, Q.Y., Crowley, W.F. Proc. Natl. Acad. Sci. U.S.A. (2007)
- Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. Pitteloud, N., Quinton, R., Pearce, S., Raivio, T., Acierno, J., Dwyer, A., Plummer, L., Hughes, V., Seminara, S., Cheng, Y.Z., Li, W.P., Maccoll, G., Eliseenkova, A.V., Olsen, S.K., Ibrahimi, O.A., Hayes, F.J., Boepple, P., Hall, J.E., Bouloux, P., Mohammadi, M., Crowley, W. J. Clin. Invest. (2007)
- Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Pitteloud, N., Acierno, J.S., Meysing, A., Eliseenkova, A.V., Ma, J., Ibrahimi, O.A., Metzger, D.L., Hayes, F.J., Dwyer, A.A., Hughes, V.A., Yialamas, M., Hall, J.E., Grant, E., Mohammadi, M., Crowley, W.F. Proc. Natl. Acad. Sci. U.S.A. (2006)
- Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Pitteloud, N., Meysing, A., Quinton, R., Acierno, J.S., Dwyer, A.A., Plummer, L., Fliers, E., Boepple, P., Hayes, F., Seminara, S., Hughes, V.A., Ma, J., Bouloux, P., Mohammadi, M., Crowley, W.F. Mol. Cell. Endocrinol. (2006)
- Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. Pitteloud, N., Acierno, J.S., Meysing, A.U., Dwyer, A.A., Hayes, F.J., Crowley, W.F. J. Clin. Endocrinol. Metab. (2005)
- Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism. Pitteloud, N., Hayes, F.J., Dwyer, A., Boepple, P.A., Lee, H., Crowley, W.F. J. Clin. Endocrinol. Metab. (2002)
- The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. Pitteloud, N., Boepple, P.A., DeCruz, S., Valkenburgh, S.B., Crowley, W.F., Hayes, F.J. J. Clin. Endocrinol. Metab. (2001)