Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 156

1.

GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.

Freson K, Izzi B, Labarque V, Van Helvoirt M, Thys C, Wittevrongel C, Bex M, Bouillon R, Godefroid N, Proesmans W, de Zegher F, Jaeken J, Van Geet C.

J Clin Endocrinol Metab. 2008 Dec;93(12):4851-9. doi: 10.1210/jc.2008-0883. Epub 2008 Sep 23.

PMID:
18812479
2.

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

Izzi B, Francois I, Labarque V, Thys C, Wittevrongel C, Devriendt K, Legius E, Van den Bruel A, D'Hooghe M, Lambrechts D, de Zegher F, Van Geet C, Freson K.

PLoS One. 2012;7(6):e38579. doi: 10.1371/journal.pone.0038579. Epub 2012 Jun 5.

3.

The GNAS locus and pseudohypoparathyroidism.

Bastepe M.

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

PMID:
18372789
4.

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.

Zazo C, Thiele S, Martín C, Fernandez-Rebollo E, Martinez-Indart L, Werner R, Garin I; Spanish PHP Group., Hiort O, Perez de Nanclares G.

J Bone Miner Res. 2011 Aug;26(8):1864-70. doi: 10.1002/jbmr.369.

5.

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.

Izzi B, de Zegher F, Francois I, del Favero J, Goossens D, Wittevrongel C, Thys C, Van Geet C, Freson K.

J Hum Genet. 2012 Apr;57(4):277-9. doi: 10.1038/jhg.2012.1. Epub 2012 Jan 26.

PMID:
22277900
6.

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis.

Chillambhi S, Turan S, Hwang DY, Chen HC, Jüppner H, Bastepe M.

J Clin Endocrinol Metab. 2010 Aug;95(8):3993-4002. doi: 10.1210/jc.2009-2205. Epub 2010 May 5.

7.

Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.

Freson K, Thys C, Wittevrongel C, Proesmans W, Hoylaerts MF, Vermylen J, Van Geet C.

Hum Mol Genet. 2002 Oct 15;11(22):2741-50.

PMID:
12374764
8.

Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.

Freson K, Izzi B, Jaeken J, Van Helvoirt M, Thys C, Wittevrongel C, de Zegher F, Van Geet C.

J Clin Endocrinol Metab. 2008 Dec;93(12):4844-9. doi: 10.1210/jc.2008-0233. Epub 2008 Sep 16.

PMID:
18796523
9.

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.

Lecumberri B, Fernández-Rebollo E, Sentchordi L, Saavedra P, Bernal-Chico A, Pallardo LF, Bustos JM, Castaño L, de Santiago M, Hiort O, Pérez de Nanclares G, Bastepe M.

J Med Genet. 2010 Apr;47(4):276-80. doi: 10.1136/jmg.2009.071001. Epub 2009 Oct 26.

10.

Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.

Liu J, Nealon JG, Weinstein LS.

Hum Mol Genet. 2005 Jan 1;14(1):95-102. Epub 2004 Nov 10.

PMID:
15537666
11.

[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.

12.

A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.

Thiele S, Werner R, Ahrens W, Hoppe U, Marschke C, Staedt P, Hiort O.

J Clin Endocrinol Metab. 2007 May;92(5):1764-8. Epub 2007 Feb 13.

PMID:
17299070
13.

Recent advances in GNAS epigenetic research of pseudohypoparathyroidism.

Izzi B, Van Geet C, Freson K.

Curr Mol Med. 2012 Jun;12(5):566-73. Review.

PMID:
22300135
14.

Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

Elli FM, deSanctis L, Ceoloni B, Barbieri AM, Bordogna P, Beck-Peccoz P, Spada A, Mantovani G.

Hum Mutat. 2013 Mar;34(3):411-6. doi: 10.1002/humu.22265. Epub 2013 Jan 18.

PMID:
23281139
15.

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
16.

Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.

Cho SY, Yoon YA, Ki CS, Huh HJ, Yoo HW, Lee BH, Kim GH, Yoo JH, Kim SY, Kim SJ, Sohn YB, Park SW, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Jin DK.

Exp Clin Endocrinol Diabetes. 2013 Oct;121(9):539-45. doi: 10.1055/s-0033-1349867. Epub 2013 Oct 14.

PMID:
24127307
17.

A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system.

Izzi B, Decallonne B, Devriendt K, Bouillon R, Vanderschueren D, Levtchenko E, de Zegher F, Van den Bruel A, Lambrechts D, Van Geet C, Freson K.

Clin Chim Acta. 2010 Dec 14;411(23-24):2033-9. doi: 10.1016/j.cca.2010.08.034. Epub 2010 Aug 31.

PMID:
20807523
18.

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.

Thiele S, de Sanctis L, Werner R, Grötzinger J, Aydin C, Jüppner H, Bastepe M, Hiort O.

Hum Mutat. 2011 Jun;32(6):653-60. doi: 10.1002/humu.21489. Epub 2011 Apr 12.

19.

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.

de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M.

J Clin Endocrinol Metab. 2007 Jun;92(6):2370-3. Epub 2007 Apr 3.

PMID:
17405843
20.

Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia.

Thiele S, Werner R, Ahrens W, Hübner A, Hinkel KG, Höppner W, Igl B, Hiort O.

Exp Clin Endocrinol Diabetes. 2010 Feb;118(2):127-32. doi: 10.1055/s-0029-1215589. Epub 2009 Aug 5.

PMID:
19658058

Supplemental Content

Support Center