Ichikawa S - Search Results

1

Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.

Ichikawa S, Imel EA, Sorenson AH, Severe R, Knudson P, Harris GJ, Shaker JL, Econs MJ. Ichikawa S, et al. J Clin Endocrinol Metab. 2006 Nov;91(11):4472-5. doi: 10.1210/jc.2006-1247. Epub 2006 Aug 29. J Clin Endocrinol Metab. 2006. PMID: 16940445

2

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ. Ichikawa S, et al. J Musculoskelet Neuronal Interact. 2007 Oct-Dec;7(4):318-9. J Musculoskelet Neuronal Interact. 2007. PMID: 18094491 Free article. No abstract available.

3

A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

Ichikawa S, Lyles KW, Econs MJ. Ichikawa S, et al. J Clin Endocrinol Metab. 2005 Apr;90(4):2420-3. doi: 10.1210/jc.2004-2302. Epub 2005 Feb 1. J Clin Endocrinol Metab. 2005. PMID: 15687324

4

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.

Ichikawa S, Sorenson AH, Imel EA, Friedman NE, Gertner JM, Econs MJ. Ichikawa S, et al. J Clin Endocrinol Metab. 2006 Oct;91(10):4022-7. doi: 10.1210/jc.2005-2840. Epub 2006 Jul 18. J Clin Endocrinol Metab. 2006. PMID: 16849419

5

Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.

Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, Sorenson AH, Petit B, Lienhardt A, Econs MJ. Ichikawa S, et al. J Clin Endocrinol Metab. 2007 May;92(5):1943-7. doi: 10.1210/jc.2006-1825. Epub 2007 Feb 20. J Clin Endocrinol Metab. 2007. PMID: 17311862

6

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ. Ichikawa S, et al. J Clin Invest. 2007 Sep;117(9):2684-91. doi: 10.1172/JCI31330. J Clin Invest. 2007. PMID: 17710231 Free PMC article.

7

Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.

Ichikawa S, Sorenson AH, Austin AM, Mackenzie DS, Fritz TA, Moh A, Hui SL, Econs MJ. Ichikawa S, et al. Endocrinology. 2009 Jun;150(6):2543-50. doi: 10.1210/en.2008-0877. Epub 2009 Feb 12. Endocrinology. 2009. PMID: 19213845 Free PMC article.

8

Mosaicism in osteopathia striata with cranial sclerosis.

Joseph DJ, Ichikawa S, Econs MJ. Joseph DJ, et al. Among authors: ichikawa s. J Clin Endocrinol Metab. 2010 Apr;95(4):1506-7. doi: 10.1210/jc.2009-2343. Epub 2010 Feb 11. J Clin Endocrinol Metab. 2010. PMID: 20150574 Free PMC article.

9

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M, Malandrinou FCh, Singhellakis PN, Le Merrer M, Econs MJ. Ichikawa S, et al. Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337. Am J Med Genet A. 2010. PMID: 20358599 Free PMC article.

10

Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis.

Ichikawa S, Austin AM, Gray AK, Allen MR, Econs MJ. Ichikawa S, et al. Endocrinology. 2011 Dec;152(12):4504-13. doi: 10.1210/en.2011-1137. Epub 2011 Oct 18. Endocrinology. 2011. PMID: 22009723 Free PMC article.

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