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Items: 1 to 20 of 156

1.

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.

2.

The GNAS locus and pseudohypoparathyroidism.

Bastepe M.

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

PMID:
18372789
3.

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.

4.

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.

5.

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.

6.
7.

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.

Jin HY, Lee BH, Choi JH, Kim GH, Kim JK, Lee JH, Yu J, Yoo JH, Ko CW, Lim HH, Chung HR, Yoo HW.

Clin Endocrinol (Oxf). 2011 Aug;75(2):207-13. doi: 10.1111/j.1365-2265.2011.04026.x.

PMID:
21521295
8.

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
9.

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
10.

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.

Linglart A, Gensure RC, Olney RC, Jüppner H, Bastepe M.

Am J Hum Genet. 2005 May;76(5):804-14. Epub 2005 Mar 30. Erratum in: Am J Hum Genet. 2007 Jul;81(1):196.

11.

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.

12.

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
13.

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.

14.

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

Fernández-Rebollo E, Pérez de Nanclares G, Lecumberri B, Turan S, Anda E, Pérez-Nanclares G, Feig D, Nik-Zainal S, Bastepe M, Jüppner H.

J Bone Miner Res. 2011 Aug;26(8):1854-63. doi: 10.1002/jbmr.408.

15.

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.

16.

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.

17.

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

Rochtus A, Martin-Trujillo A, Izzi B, Elli F, Garin I, Linglart A, Mantovani G, Perez de Nanclares G, Thiele S, Decallonne B, Van Geet C, Monk D, Freson K.

Clin Epigenetics. 2016 Jan 26;8:10. doi: 10.1186/s13148-016-0175-8. eCollection 2016.

18.

Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus.

Perez-Nanclares G, Velayos T, Vela A, Muñoz-Torres M, Castaño L.

PLoS One. 2015 Feb 24;10(2):e0117691. doi: 10.1371/journal.pone.0117691. eCollection 2015.

19.

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.

20.

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

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