Thiele S - Search Results

1

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.

Şahin S, Hiort O, Thiele S, Evliyaoğlu O, Tüysüz B. Şahin S, et al. Among authors: thiele s. J Clin Res Pediatr Endocrinol. 2017 Mar 1;9(1):74-79. doi: 10.4274/jcrpe.3191. Epub 2016 Jul 18. J Clin Res Pediatr Endocrinol. 2017. PMID: 27425121 Free PMC article.

2

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. Thiele S, et al. J Clin Endocrinol Metab. 2007 May;92(5):1764-8. doi: 10.1210/jc.2006-2122. Epub 2007 Feb 13. J Clin Endocrinol Metab. 2007. PMID: 17299070

3

Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation.

Semiz S, Duzcan F, Candemir M, Caner V, Thiele S, Semiz E, Hiort O. Semiz S, et al. Among authors: thiele s. J Pediatr Endocrinol Metab. 2009 Feb;22(2):107-8. doi: 10.1515/jpem.2009.22.2.107. J Pediatr Endocrinol Metab. 2009. PMID: 19449667 No abstract available.

4

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. Thiele S, et al. Exp Clin Endocrinol Diabetes. 2010 Feb;118(2):127-32. doi: 10.1055/s-0029-1215589. Epub 2009 Aug 5. Exp Clin Endocrinol Diabetes. 2010. PMID: 19658058

5

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. Weinhaeusel A, et al. Among authors: thiele s. Clin Chem. 2008 Sep;54(9):1537-45. doi: 10.1373/clinchem.2008.104216. Epub 2008 Jul 10. Clin Chem. 2008. PMID: 18617581

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. Zazo C, et al. Among authors: thiele s. J Bone Miner Res. 2011 Aug;26(8):1864-70. doi: 10.1002/jbmr.369. J Bone Miner Res. 2011. PMID: 21351142 Free article.

7

A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.

Winter J, Hiort O, Hermanns P, Thiele S, Pohlenz J. Winter J, et al. Among authors: thiele s. J Pediatr Endocrinol Metab. 2011;24(5-6):297-301. doi: 10.1515/jpem.2011.172. J Pediatr Endocrinol Metab. 2011. PMID: 21823526

8

Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders.

Brix B, Werner R, Staedt P, Struve D, Hiort O, Thiele S. Brix B, et al. Among authors: thiele s. J Clin Endocrinol Metab. 2014 Aug;99(8):E1564-70. doi: 10.1210/jc.2013-4477. Epub 2014 May 30. J Clin Endocrinol Metab. 2014. PMID: 24878042

9

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. Thiele S, et al. Hum Mutat. 2011 Jun;32(6):653-60. doi: 10.1002/humu.21489. Epub 2011 Apr 12. Hum Mutat. 2011. PMID: 21488135 Free PMC article.

10

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, Perez de Nanclares G, Silve C, Thiele S, Werner R; EuroPHP Consortium. Garin I, et al. Among authors: thiele s. Eur J Hum Genet. 2015 Apr;23(4):438-44. doi: 10.1038/ejhg.2014.127. Epub 2014 Jul 9. Eur J Hum Genet. 2015. PMID: 25005735 Free PMC article.

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