Jüppner H - Search Results

1

Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation.

Bastepe M, Jüppner H. Bastepe M, et al. Among authors: juppner h. J Clin Endocrinol Metab. 2003 Sep;88(9):4055-8. doi: 10.1210/jc.2003-031271. J Clin Endocrinol Metab. 2003. PMID: 12970261 Review. No abstract available.

2

Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.

Laspa E, Bastepe M, Jüppner H, Tsatsoulis A. Laspa E, et al. Among authors: juppner h. J Clin Endocrinol Metab. 2004 Dec;89(12):5942-7. doi: 10.1210/jc.2004-0249. J Clin Endocrinol Metab. 2004. PMID: 15579741

3

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. de Nanclares GP, et al. Among authors: juppner h. J Clin Endocrinol Metab. 2007 Jun;92(6):2370-3. doi: 10.1210/jc.2006-2287. Epub 2007 Apr 3. J Clin Endocrinol Metab. 2007. PMID: 17405843

4

Linglart A, Bastepe M, Jüppner H. Linglart A, et al. Among authors: juppner h. Clin Endocrinol (Oxf). 2007 Dec;67(6):822-31. doi: 10.1111/j.1365-2265.2007.02969.x. Epub 2007 Jul 25. Clin Endocrinol (Oxf). 2007. PMID: 17651445

5

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

Bastepe M, Fröhlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Jüppner H. Bastepe M, et al. Among authors: juppner h. Nat Genet. 2005 Jan;37(1):25-7. doi: 10.1038/ng1487. Epub 2004 Dec 12. Nat Genet. 2005. PMID: 15592469

6

GNAS locus and pseudohypoparathyroidism.

Bastepe M, Jüppner H. Bastepe M, et al. Among authors: juppner h. Horm Res. 2005;63(2):65-74. doi: 10.1159/000083895. Epub 2005 Feb 9. Horm Res. 2005. PMID: 15711092 Free article. Review.

7

Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.

Linglart A, Mahon MJ, Kerachian MA, Berlach DM, Hendy GN, Jüppner H, Bastepe M. Linglart A, et al. Among authors: juppner h. Endocrinology. 2006 May;147(5):2253-62. doi: 10.1210/en.2005-1487. Epub 2006 Feb 16. Endocrinology. 2006. PMID: 16484323

8

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

Jüppner H, Bastepe M. Jüppner H, et al. J Pediatr Endocrinol Metab. 2006 May;19 Suppl 2:641-6. doi: 10.1515/jpem.2006.19.s2.641. J Pediatr Endocrinol Metab. 2006. PMID: 16789629 Review.

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. Fröhlich LF, et al. Among authors: juppner h. Endocrinology. 2007 Jun;148(6):2925-35. doi: 10.1210/en.2006-1298. Epub 2007 Feb 22. Endocrinology. 2007. PMID: 17317779

10

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. Chillambhi S, et al. Among authors: juppner h. J Clin Endocrinol Metab. 2010 Aug;95(8):3993-4002. doi: 10.1210/jc.2009-2205. Epub 2010 May 5. J Clin Endocrinol Metab. 2010. PMID: 20444925 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

338 results

Search Page