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Items: 13


Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.

Guerreiro R, Brás J, Batista S, Pires P, Ribeiro MH, Almeida MR, Oliveira C, Hardy J, Santana I.

Genes Brain Behav. 2016 Sep;15(7):669-77. doi: 10.1111/gbb.12308. Epub 2016 Aug 24.


Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.

Takatani R, Molinaro A, Grigelioniene G, Tafaj O, Watanabe T, Reyes M, Sharma A, Singhal V, Raymond FL, Linglart A, Jüppner H.

J Bone Miner Res. 2016 Apr;31(4):796-805. doi: 10.1002/jbmr.2731. Epub 2015 Nov 14.


Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.

Zhao W, Petit E, Gafni RI, Collins MT, Robey PG, Seton M, Miller KK, Mannstadt M.

Osteoporos Int. 2013 Aug;24(8):2275-81. doi: 10.1007/s00198-013-2298-5. Epub 2013 Feb 7.


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.


A naturally occurring isoform inhibits parathyroid hormone receptor trafficking and signaling.

Alonso V, Ardura JA, Wang B, Sneddon WB, Friedman PA.

J Bone Miner Res. 2011 Jan;26(1):143-55. doi: 10.1002/jbmr.167.


The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted Transcripts.

Bastepe M.

Curr Genomics. 2007 Sep;8(6):398-414. doi: 10.2174/138920207783406488.


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.


PTHR1 mutations associated with Ollier disease result in receptor loss of function.

Couvineau A, Wouters V, Bertrand G, Rouyer C, Gérard B, Boon LM, Grandchamp B, Vikkula M, Silve C.

Hum Mol Genet. 2008 Sep 15;17(18):2766-75. doi: 10.1093/hmg/ddn176. Epub 2008 Jun 17.


Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

Bastepe M, Fröhlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Körkkö J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Jüppner H.

J Clin Invest. 2003 Oct;112(8):1255-63.


Parathyroid hormone-related protein and its receptors: nuclear functions and roles in the renal and cardiovascular systems, the placental trophoblasts and the pancreatic islets.

Clemens TL, Cormier S, Eichinger A, Endlich K, Fiaschi-Taesch N, Fischer E, Friedman PA, Karaplis AC, Massfelder T, Rossert J, Schlüter KD, Silve C, Stewart AF, Takane K, Helwig JJ.

Br J Pharmacol. 2001 Nov;134(6):1113-36. Review.


A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS.

J Clin Invest. 2000 Nov;106(9):1167-74.


Developmental upregulation of human parathyroid hormone (PTH)/PTH-related peptide receptor gene expression from conserved and human-specific promoters.

Bettoun JD, Minagawa M, Hendy GN, Alpert LC, Goodyer CG, Goltzman D, White JH.

J Clin Invest. 1998 Sep 1;102(5):958-67.


Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

Jobert AS, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M, Silve C.

J Clin Invest. 1998 Jul 1;102(1):34-40.

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