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Items: 1 to 20 of 107

1.

Characterization of Albright hereditary osteodystrophy and related disorders.

Koo BB, Schwindinger WF, Levine MA.

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1995 Jan-Feb;36(1):3-13. Review.

PMID:
7778442
2.

Olfactory dysfunction in type I pseudohypoparathyroidism: dissociation from Gs alpha protein deficiency.

Doty RL, Fernandez AD, Levine MA, Moses A, McKeown DA.

J Clin Endocrinol Metab. 1997 Jan;82(1):247-50.

PMID:
8989268
3.

Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha.

Mouallem M, Shaharabany M, Weintrob N, Shalitin S, Nagelberg N, Shapira H, Zadik Z, Farfel Z.

Clin Endocrinol (Oxf). 2008 Feb;68(2):233-9. Epub 2007 Sep 4.

PMID:
17803690
5.

Pseudohypoparathyroidism type Ia. Albright hereditary osteodystrophy: a model for research on G protein-coupled receptors and genomic imprinting.

Simon A, Koppeschaar HP, Roijers JF, Höppener JW, Lips CJ.

Neth J Med. 2000 Mar;56(3):100-9. Review.

PMID:
10759021
6.

GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?

Mantovani G, Elli FM, Spada A.

Horm Metab Res. 2012 Sep;44(10):716-23. doi: 10.1055/s-0032-1314842. Epub 2012 Jun 6. Review.

PMID:
22674477
7.

Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.

Yu D, Yu S, Schuster V, Kruse K, Clericuzio CL, Weinstein LS.

J Clin Endocrinol Metab. 1999 Sep;84(9):3254-9.

PMID:
10487696
8.

Genetic basis for resistance to parathyroid hormone.

Levine MA, Germain-Lee E, Jan de Beur S.

Horm Res. 2003;60 Suppl 3:87-95. Review.

PMID:
14671404
9.

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.

De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scirè G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, Rigon F, Lala R, De Sanctis C, Dianzani I.

Pediatr Res. 2003 May;53(5):749-55. Epub 2003 Mar 5.

PMID:
12621129
10.

Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.

Izraeli S, Metzker A, Horev G, Karmi D, Merlob P, Farfel Z.

Am J Med Genet. 1992 Jul 1;43(4):764-7.

PMID:
1621772
11.

Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.

Mantovani G, de Sanctis L, Barbieri AM, Elli FM, Bollati V, Vaira V, Labarile P, Bondioni S, Peverelli E, Lania AG, Beck-Peccoz P, Spada A.

J Clin Endocrinol Metab. 2010 Feb;95(2):651-8. doi: 10.1210/jc.2009-0176. Epub 2010 Jan 8.

PMID:
20061437
13.

GNAS locus and pseudohypoparathyroidism.

Bastepe M, Jüppner H.

Horm Res. 2005;63(2):65-74. Epub 2005 Feb 9. Review.

14.

The GNAS locus and pseudohypoparathyroidism.

Bastepe M.

Adv Exp Med Biol. 2008;626:27-40. Review.

PMID:
18372789
15.

Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene.

Shapira H, Friedman E, Mouallem M, Farfel Z.

J Clin Endocrinol Metab. 1996 Apr;81(4):1660-2.

PMID:
8636385
16.

Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy.

Schuster V, Eschenhagen T, Kruse K, Gierschik P, Kreth HW.

Eur J Pediatr. 1993 Mar;152(3):185-9.

PMID:
8444241
18.

[Clinical features of two cases of pseudohypoparathyroidism (ia and ib) and molecular analysis of GNAS].

Domínguez García A, Castaño González LA, Pérez-Nanclares G, Quinteiro González S, Caballero Fernández E.

An Pediatr (Barc). 2013 Nov;79(5):319-24. doi: 10.1016/j.anpedi.2013.03.012. Epub 2013 Apr 26. Spanish.

20.

Hormone resistance caused by mutations in G proteins and G protein-coupled receptors.

Spiegel AM.

J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:303-9. Review.

PMID:
10698594
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