221 Publications (Page 9 of 9)
2007
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosisIchikawa, S.⋅Imel, E. A.⋅Kreiter, M. L.⋅Yu, X.⋅Mackenzie, D. S.⋅Sorenson, A. H.⋅Goetz, R.⋅Mohammadi, M.⋅White, K. E. and Econs, M. J.(pp. 2684-91)
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosisIchikawa, Shoji⋅Imel, Erik A⋅Kreiter, Mary L⋅Yu, X.⋅Mac Kenzie, Duncan S⋅Sorenson, AH⋅Goetz, R.⋅Mohammadi, Moosa⋅White, Kenneth E and Econs, MichaelJournal of Musculoskeletal & Neuronal Interactions, vol. 7, (no. 4), pp. 318-319, 2007.
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A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.Ichikawa, Shoji⋅Imel, Erik A⋅Kreiter, Mary L⋅Yu, Xijie⋅Mackenzie, Donald S⋅Sorenson, Andrea H⋅Goetz, Regina⋅Mohammadi, Moosa⋅White, Kenneth E and Econs, Michael JThe Journal of clinical investigation, vol. 117, (no. 9), pp. 2684-91, 2007/Sep.
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Chapter 15. Gonadotropin Dependent Precocious PubertyImel, E.A. and Bethin, K.E.
-Book chapter-Imel, E.A. and Bethin, K.E.In Chapter 15. Gonadotropin Dependent Precocious Puberty. 2007
FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic ricketsImel, E. A.⋅Hui, S. L. and Econs, M. J.(pp. 520-526)
FGF23 Concentrations Vary With Disease Status in Autosomal Dominant Hypophosphatemic RicketsImel, Erik A⋅Hui, Siu L and Econs, MichaelJournal of Bone and Mineral Research, vol. 22, (no. 4), pp. 520-526, 2007.
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Fibrous dysplasia, phosphate wasting and fibroblast growth factor 23Imel, E. A. and Econs, M. J.(pp. 434-9)
Fibrous dysplasia, phosphate wasting and fibroblast growth factor 23.Imel, Erik A⋅Imel, Erik A⋅Econs, Michael J and Econs, Michael JPediatric endocrinology reviews : PER, vol. 4 Suppl 4, pp. 434-9, 2007/Aug.
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Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrationsIchikawa, S.⋅Guigonis, V.⋅Imel, E. A.⋅Courouble, M.⋅Heissat, S.⋅Henley, J. D.⋅Sorenson, A. H.⋅Petit, B.⋅Lienhardt, A. and Econs, M. J.(pp. 1943-7)
Novel GALNT3 Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 ConcentrationsIchikawa, Shoji⋅Guigonis, Vincent⋅Imel, Erik A⋅Courouble, Melanie⋅Heissat, Sophie⋅Henley, John D⋅Sorenson, Andrea H⋅Petit, Barbara⋅Lienhardt, Anne and Econs, MichaelJournal of Clinical Endocrinology and Metabolism, vol. 92, (no. 5), pp. 1943-1947, 2007.
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2006
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuriaIchikawa, S.⋅Sorenson, A. H.⋅Imel, E. A.⋅Friedman, N. E.⋅Gertner, J. M. and Econs, M. J.(pp. 4022-7)
Intronic Deletions in the SLC34A3 Gene Cause Hereditary Hypophosphatemic Rickets with HypercalciuriaIchikawa, Shoji⋅Sorenson, Andrea H⋅Imel, Erik A⋅Friedman, Nancy E⋅Gertner, Joseph M and Econs, MichaelJournal of Clinical Endocrinology and Metabolism, vol. 91, (no. 10), pp. 4022-4027, 2006.
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Sensitivity of fibroblast growth factor 23 measurements in tumor-induced osteomalaciaImel, E. A.⋅Peacock, M.⋅Pitukcheewanont, P.⋅Heller, H. J.⋅Ward, L. M.⋅Shulman, D.⋅Kassem, M.⋅Rackoff, P.⋅Zimering, M.⋅Dalkin, A.⋅Drobny, E.⋅Colussi, G.⋅Shaker, J. L.⋅Hoogendoorn, E. H.⋅Hui, S. L. and Econs, M. J.(pp. 2055-61)
Sensitivity of Fibroblast Growth Factor 23 Measurements in Tumor-Induced OsteomalaciaImel, Erik A⋅Imel, Erik A⋅Peacock, Munro⋅Peacock, Munro⋅Pitukcheewanont, Pisit⋅Pitukcheewanont, Pisit⋅Heller, Howard J⋅Heller, Howard J⋅Ward, Leanne M⋅Ward, Leanne M⋅Shulman, Dorothy⋅Shulman, Dorothy⋅Kassem, Moustapha⋅Kassem, Moustapha⋅Rackoff, Paula⋅Rackoff, Paula⋅Zimering, Mark⋅Zimering, Mark⋅Dalkin, Alan⋅Dalkin, Alan⋅Drobny, Elaine⋅Drobny, Elaine⋅Colussi, Giacomo⋅Colussi, Giacomo⋅Shaker, Joseph L⋅Shaker, Joseph L⋅Hoogendoorn, Elizabeth H⋅Hoogendoorn, Elizabeth H⋅Hui, Siu L⋅Hui, Siu L⋅Econs, Michael J and Econs, MichaelJournal of Clinical Endocrinology and Metabolism, vol. 91, (no. 6), pp. 2055-2061, 2006.
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Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 geneIchikawa, S.⋅Imel, E. A.⋅Sorenson, A. H.⋅Severe, R.⋅Knudson, P.⋅Harris, G. J.⋅Shaker, J. L. and Econs, M. J.J Clin Endocrinol Metab, vol. 91, pp. 4472-5.
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Tumoral Calcinosis Presenting with Eyelid Calcifications due to Novel Missense Mutations in the Glycosyl Transferase Domain of the GALNT3 GeneIchikawa, Shoji⋅Imel, Erik A⋅Sorenson, Andrea H⋅Severe, Rebecca⋅Knudson, Paul E⋅Harris, Gerald J⋅Shaker, Joseph L and Econs, MichaelJournal of Clinical Endocrinology and Metabolism, vol. 91, (no. 11), pp. 4472-4475, 2006.
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2005
Fibroblast growth factor 23: roles in health and diseaseImel, E. A. and Econs, M. J.(pp. 2565-75)
Fibroblast growth factor 23: roles in health and disease.Imel, Erik A⋅Imel, Erik A⋅Econs, Michael J and Econs, Michael JJournal of the American Society of Nephrology : JASN, vol. 16, (no. 9), pp. 2565-75, 2005/Sep.
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Unexpected Widespread Hypophosphatemia and Bone Disease Associated with Elemental Formula Use in Infants and ChildrenGonzalez Ballesteros, Luisa⋅Ma, Nina⋅Gordon, Rebecca⋅Ward, Leanne⋅Backeljauw, Philippe⋅Wasserman, Halley⋅Weber, David⋅DiMeglio, Linda⋅Gagne, Julie⋅Stein, Robert⋅Cody, Declan⋅Simmons, Kimber⋅Zimakas, Paul⋅Topor, Lisa⋅Agrawal, Sungeeta⋅Calabria, Andrew⋅Tebben, Peter⋅Faircloth, Ruth⋅Imel, Erik⋅Casey, Linda and Carpenter, Thomas.
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