Sorenson AH - Search Results

1

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. Among authors: sorenson ah. 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

2

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. Among authors: sorenson ah. 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

3

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. Among authors: sorenson ah. 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

4

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.

Ichikawa S, Traxler EA, Estwick SA, Curry LR, Johnson ML, Sorenson AH, Imel EA, Econs MJ. Ichikawa S, et al. Among authors: sorenson ah. Bone. 2008 Oct;43(4):663-6. doi: 10.1016/j.bone.2008.06.002. Epub 2008 Jun 18. Bone. 2008. PMID: 18625346 Free PMC article.

5

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. Among authors: sorenson ah. J Clin Invest. 2007 Sep;117(9):2684-91. doi: 10.1172/JCI31330. J Clin Invest. 2007. PMID: 17710231 Free PMC article.

6

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. Among authors: sorenson ah. Endocrinology. 2009 Jun;150(6):2543-50. doi: 10.1210/en.2008-0877. Epub 2009 Feb 12. Endocrinology. 2009. PMID: 19213845 Free PMC article.

7

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. Among authors: sorenson ah. 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.

8

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. Among authors: sorenson ah. J Musculoskelet Neuronal Interact. 2007 Oct-Dec;7(4):318-9. J Musculoskelet Neuronal Interact. 2007. PMID: 18094491 Free article. No abstract available.

9

Discordance for X-linked hypophosphataemic rickets in identical twin girls.

Owen CJ, Habeb A, Pearce SH, Wright M, Ichikawa S, Sorenson AH, Econs MJ, Cheetham TD. Owen CJ, et al. Among authors: sorenson ah. Horm Res. 2009;71(4):237-44. doi: 10.1159/000201113. Epub 2009 Mar 4. Horm Res. 2009. PMID: 19258716

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