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Results: 1 to 20 of 102

Similar articles for PubMed (Select 23087324)

1.

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.

Turan S, Ignatius J, Moilanen JS, Kuismin O, Stewart H, Mann NP, Linglart A, Bastepe M, Jüppner H.

J Clin Endocrinol Metab. 2012 Dec;97(12):E2314-9. doi: 10.1210/jc.2012-2920. Epub 2012 Oct 18.

2.

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.

3.

Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR.

Elli FM, de Sanctis L, Peverelli E, Bordogna P, Pivetta B, Miolo G, Beck-Peccoz P, Spada A, Mantovani G.

J Clin Endocrinol Metab. 2014 Apr;99(4):E724-8. doi: 10.1210/jc.2013-3704. Epub 2014 Jan 17.

PMID:
24438374
4.

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
5.

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.

Turan S, Akin L, Akcay T, Adal E, Sarikaya S, Bastepe M, Jüppner H.

Eur J Endocrinol. 2010 Sep;163(3):489-93. doi: 10.1530/EJE-10-0348. Epub 2010 Jun 10.

6.

Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib.

Cavaco BM, Tomaz RA, Fonseca F, Mascarenhas MR, Leite V, Sobrinho LG.

Endocrine. 2010 Jun;37(3):408-14. doi: 10.1007/s12020-010-9321-9. Epub 2010 Mar 30.

PMID:
20960161
7.

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.

8.

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
9.

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.

10.
11.

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.

12.
13.

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
14.

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.

15.

The GNAS locus and pseudohypoparathyroidism.

Bastepe M.

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

PMID:
18372789
16.

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.

17.

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.

18.

Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.

Jüppner H, Bastepe M.

J Pediatr Endocrinol Metab. 2006 May;19 Suppl 2:641-6. Review.

PMID:
16789629
19.

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.

Bréhin AC, Colson C, Maupetit-Méhouas S, Grybek V, Richard N, Linglart A, Kottler ML, Jüppner H.

J Clin Endocrinol Metab. 2015 Apr;100(4):E623-31. doi: 10.1210/jc.2014-4047. Epub 2015 Jan 20.

PMID:
25603460
20.

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
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