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Items: 1 to 20 of 140

1.

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.

J Clin Endocrinol Metab. 2008 Sep;93(9):3568-76. doi: 10.1210/jc.2007-2167. Epub 2008 Jun 26.

2.

Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.

Yi HS, Eom YS, Park IeB, Lee S, Hong S, Jüppner H, Mannstadt M, Lee S.

Clin Endocrinol (Oxf). 2012 May;76(5):625-33. doi: 10.1111/j.1365-2265.2011.04256.x.

3.

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.

Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27.

PMID:
20190276
4.

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

Mirczuk SM, Bowl MR, Nesbit MA, Cranston T, Fratter C, Allgrove J, Brain C, Thakker RV.

J Clin Endocrinol Metab. 2010 Jul;95(7):3512-6. doi: 10.1210/jc.2009-2532. Epub 2010 May 12.

PMID:
20463099
5.
6.

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.

J Clin Endocrinol Metab. 2005 May;90(5):2487-92. Epub 2005 Feb 22.

PMID:
15728199
7.

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.

Cinque L, Sparaneo A, Penta L, Mencarelli A, Rogaia D, Esposito S, Fabrizio FP, Baorda F, Verrotti A, Falorni A, Stangoni G, Hendy GN, Guarnieri V, Prontera P.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):3961-3969. doi: 10.1210/jc.2017-00250.

PMID:
28938448
8.

Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism.

Mannstadt M, Holick E, Zhao W, Jüppner H.

J Endocrinol. 2011 Aug;210(2):165-71. doi: 10.1530/JOE-10-0247. Epub 2011 Jun 3.

9.
10.

Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.

Park SY, Eom YS, Choi B, Yi HS, Yu SH, Lee K, Jin HS, Chung YS, Jung TS, Lee S.

J Korean Med Sci. 2013 Oct;28(10):1489-95. doi: 10.3346/jkms.2013.28.10.1489. Epub 2013 Sep 25.

11.

Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.

Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Nakazawa M, Sasaki G, Hasegawa T.

J Clin Endocrinol Metab. 2014 Nov;99(11):E2421-8. doi: 10.1210/jc.2014-2174. Epub 2014 Aug 19.

PMID:
25137426
12.

A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.

Sticht H, Hashemolhosseini S.

Med Hypotheses. 2006;67(3):482-7. Epub 2006 May 12.

PMID:
16697534
13.

Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.

Obermannova B, Sumnik Z, Dusatkova P, Cinek O, Grant M, Lebl J, Hendy GN.

Eur J Endocrinol. 2016 Apr;174(4):K1-K11. doi: 10.1530/EJE-15-1216. Epub 2016 Jan 13.

14.

CASR gene activating mutations in two families with autosomal dominant hypocalcemia.

Guarnieri V, Valentina D'Elia A, Baorda F, Pazienza V, Benegiamo G, Stanziale P, Copetti M, Battista C, Grimaldi F, Damante G, Pellegrini F, D'Agruma L, Zelante L, Carella M, Scillitani A.

Mol Genet Metab. 2012 Nov;107(3):548-52. doi: 10.1016/j.ymgme.2012.06.012. Epub 2012 Jun 26.

PMID:
22789683
15.

Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).

Dong B, Endo I, Ohnishi Y, Kondo T, Hasegawa T, Amizuka N, Kiyonari H, Shioi G, Abe M, Fukumoto S, Matsumoto T.

J Bone Miner Res. 2015 Nov;30(11):1980-93. doi: 10.1002/jbmr.2551. Epub 2015 Jul 16.

16.

A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms.

Alvarez-Hernández D, Santamaría I, Rodríguez-García M, Iglesias P, Delgado-Lillo R, Cannata-Andía JB.

J Mol Endocrinol. 2003 Oct;31(2):255-62.

PMID:
14519094
17.

The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.

Løvlie R, Eiken HG, Sørheim JI, Boman H.

Hum Genet. 1996 Aug;98(2):129-33.

PMID:
8698326
18.

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.

Li D, Opas EE, Tuluc F, Metzger DL, Hou C, Hakonarson H, Levine MA.

J Clin Endocrinol Metab. 2014 Sep;99(9):E1774-83. doi: 10.1210/jc.2014-1029. Epub 2014 May 13.

19.

Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia.

Kinoshita Y, Hori M, Taguchi M, Watanabe S, Fukumoto S.

J Clin Endocrinol Metab. 2014 Feb;99(2):E363-8. doi: 10.1210/jc.2013-3430. Epub 2013 Dec 2.

PMID:
24297799
20.

A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism.

Ertl DA, Stary S, Streubel B, Raimann A, Haeusler G.

Bone. 2012 Sep;51(3):629-32. doi: 10.1016/j.bone.2012.06.009. Epub 2012 Jun 18.

PMID:
22722080

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