PubMed (OMIM) for id: 9247

Year	Number of Results
1999	1
2000	1
2001	1
2002	1
2005	2
2008	2
2009	1
2010	1
2016	1
2024	0

1

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK. Guan B, et al. Am J Hum Genet. 2016 Nov 3;99(5):1034-1044. doi: 10.1016/j.ajhg.2016.08.018. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745835 Free PMC article.

2

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV. Bowl MR, et al. Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27. Hum Mol Genet. 2010. PMID: 20190276

3

Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.

Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN. Canaff L, et al. Hum Mutat. 2009 Jan;30(1):85-92. doi: 10.1002/humu.20827. Hum Mutat. 2009. PMID: 18712808

4

Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.

Mannstadt M, Bertrand G, Muresan M, Weryha G, Leheup B, Pulusani SR, Grandchamp B, Jüppner H, Silve C. Mannstadt M, et al. J Clin Endocrinol Metab. 2008 Sep;93(9):3568-76. doi: 10.1210/jc.2007-2167. Epub 2008 Jun 26. J Clin Endocrinol Metab. 2008. PMID: 18583467 Free PMC article.

5

Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study.

Maret A, Ding C, Kornfield SL, Levine MA. Maret A, et al. J Clin Endocrinol Metab. 2008 Apr;93(4):1426-32. doi: 10.1210/jc.2007-1783. Epub 2008 Jan 8. J Clin Endocrinol Metab. 2008. PMID: 18182452

6

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

Baumber L, Tufarelli C, Patel S, King P, Johnson CA, Maher ER, Trembath RC. Baumber L, et al. J Med Genet. 2005 May;42(5):443-8. doi: 10.1136/jmg.2004.026898. J Med Genet. 2005. PMID: 15863676 Free PMC article. No abstract available.

7

GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

Thomée C, Schubert SW, Parma J, Lê PQ, Hashemolhosseini S, Wegner M, Abramowicz MJ. Thomée C, et al. J Clin Endocrinol Metab. 2005 May;90(5):2487-92. doi: 10.1210/jc.2004-2450. Epub 2005 Feb 22. J Clin Endocrinol Metab. 2005. PMID: 15728199

8

Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.

D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M, Salisbury SR, Brown EM, Cole DE, Hendy GN. D'Souza-Li L, et al. J Clin Endocrinol Metab. 2002 Mar;87(3):1309-18. doi: 10.1210/jcem.87.3.8280. J Clin Endocrinol Metab. 2002. PMID: 11889203

9

Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.

Ding C, Buckingham B, Levine MA. Ding C, et al. J Clin Invest. 2001 Oct;108(8):1215-20. doi: 10.1172/JCI13180. J Clin Invest. 2001. PMID: 11602629 Free PMC article.

10

Genetic ablation of parathyroid glands reveals another source of parathyroid hormone.

Günther T, Chen ZF, Kim J, Priemel M, Rueger JM, Amling M, Moseley JM, Martin TJ, Anderson DJ, Karsenty G. Günther T, et al. Nature. 2000 Jul 13;406(6792):199-203. doi: 10.1038/35018111. Nature. 2000. PMID: 10910362

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

11 results

Results by year