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Items: 1 to 20 of 253

1.

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.

2.

Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.

Elli FM, de Sanctis L, Bollati V, Tarantini L, Filopanti M, Barbieri AM, Peverelli E, Beck-Peccoz P, Spada A, Mantovani G.

J Clin Endocrinol Metab. 2014 Mar;99(3):E508-17. doi: 10.1210/jc.2013-3086. Epub 2013 Jan 1.

3.

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
4.

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
5.

Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.

Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S, Lania AG, Beck-Peccoz P, Spada A.

J Clin Endocrinol Metab. 2007 Sep;92(9):3738-42. Epub 2007 Jun 26.

PMID:
17595244
6.

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.

7.

Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.

Fernandez-Rebollo E, García-Cuartero B, Garin I, Largo C, Martínez F, Garcia-Lacalle C, Castaño L, Bastepe M, Pérez de Nanclares G.

J Clin Endocrinol Metab. 2010 Feb;95(2):765-71. doi: 10.1210/jc.2009-1581. Epub 2009 Dec 11.

8.

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.

9.

The GNAS locus and pseudohypoparathyroidism.

Bastepe M.

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

PMID:
18372789
10.

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
11.

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.

12.

[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.

13.

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
14.

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
15.

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

Mariot V, Maupetit-Méhouas S, Sinding C, Kottler ML, Linglart A.

J Clin Endocrinol Metab. 2008 Mar;93(3):661-5. doi: 10.1210/jc.2007-0927. Epub 2008 Jan 8.

PMID:
18182455
16.

GNAS locus and pseudohypoparathyroidism.

Bastepe M, Jüppner H.

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

17.

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
18.

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.

19.

Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16.

Fröhlich LF, Bastepe M, Ozturk D, Abu-Zahra H, Jüppner H.

Endocrinology. 2007 Jun;148(6):2925-35. Epub 2007 Feb 22.

PMID:
17317779
20.

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

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