Similar articles for PMID: 16940445

Year	Number of Results
1985	1
1988	1
1989	1
1991	1
1993	1
1998	1
2003	1
2004	3
2005	10
2006	9
2007	14
2008	9
2009	13
2010	5
2011	3
2012	8
2013	5
2014	18
2015	8
2016	10
2017	7
2018	8
2019	7
2020	7
2021	6
2022	7
2023	1
2024	0

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

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

3

The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.

Garringer HJ, Fisher C, Larsson TE, Davis SI, Koller DL, Cullen MJ, Draman MS, Conlon N, Jain A, Fedarko NS, Dasgupta B, White KE. Garringer HJ, et al. J Clin Endocrinol Metab. 2006 Oct;91(10):4037-42. doi: 10.1210/jc.2006-0305. Epub 2006 Jul 25. J Clin Endocrinol Metab. 2006. PMID: 16868048

4

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Benet-Pagès A, Orlik P, Strom TM, Lorenz-Depiereux B. Benet-Pagès A, et al. Hum Mol Genet. 2005 Feb 1;14(3):385-90. doi: 10.1093/hmg/ddi034. Epub 2004 Dec 8. Hum Mol Genet. 2005. PMID: 15590700

5

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.

6

A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome.

Olauson H, Krajisnik T, Larsson C, Lindberg B, Larsson TE. Olauson H, et al. Eur J Endocrinol. 2008 Jun;158(6):929-34. doi: 10.1530/EJE-08-0011. Epub 2008 Mar 5. Eur J Endocrinol. 2008. PMID: 18322299

7

Two novel GALNT3 mutations in familial tumoral calcinosis.

Garringer HJ, Mortazavi SM, Esteghamat F, Malekpour M, Boztepe H, Tanakol R, Davis SI, White KE. Garringer HJ, et al. Am J Med Genet A. 2007 Oct 15;143A(20):2390-6. doi: 10.1002/ajmg.a.31947. Am J Med Genet A. 2007. PMID: 17853462

8

A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.

Dumitrescu CE, Kelly MH, Khosravi A, Hart TC, Brahim J, White KE, Farrow EG, Nathan MH, Murphey MD, Collins MT. Dumitrescu CE, et al. Osteoporos Int. 2009 Jul;20(7):1273-8. doi: 10.1007/s00198-008-0775-z. Epub 2008 Nov 4. Osteoporos Int. 2009. PMID: 18982401 Free PMC article.

9

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

10

A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.

Larsson T, Yu X, Davis SI, Draman MS, Mooney SD, Cullen MJ, White KE. Larsson T, et al. J Clin Endocrinol Metab. 2005 Apr;90(4):2424-7. doi: 10.1210/jc.2004-2238. Epub 2005 Feb 1. J Clin Endocrinol Metab. 2005. PMID: 15687325

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