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2.

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
3.

Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay.

Yuno A, Usui T, Yambe Y, Higashi K, Ugi S, Shinoda J, Mashio Y, Shimatsu A.

Eur J Endocrinol. 2013 Jan 17;168(2):169-75. doi: 10.1530/EJE-12-0548. Print 2013 Feb.

4.

PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib.

Weinhaeusel A, Thiele S, Hofner M, Hiort O, Noehammer C.

Clin Chem. 2008 Sep;54(9):1537-45. doi: 10.1373/clinchem.2008.104216. Epub 2008 Jul 10.

5.

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.

PMID:
21351142
6.

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.

7.

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.

PMID:
24423294
8.

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.

Maupetit-Méhouas S, Mariot V, Reynès C, Bertrand G, Feillet F, Carel JC, Simon D, Bihan H, Gajdos V, Devouge E, Shenoy S, Agbo-Kpati P, Ronan A, Naud-Saudreau C, Lienhardt A, Silve C, Linglart A.

J Med Genet. 2011 Jan;48(1):55-63. doi: 10.1136/jmg.2010.081356. Epub 2010 Oct 23.

PMID:
20972248
9.

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.

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.

11.

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
12.

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
13.

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
14.

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.

15.

The GNAS locus and pseudohypoparathyroidism.

Bastepe M.

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

PMID:
18372789
16.

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
17.

Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.

Jüppner H, Linglart A, Fröhlich LF, Bastepe M.

Ann N Y Acad Sci. 2006 Apr;1068:250-5.

PMID:
16831926
18.

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.

19.

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.

20.

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
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