Hiort O - Search Results

1

[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].

Fölster-Holst R, Riepe FG, Ahrens W, Möller M, Brasch J, Partsch CJ, Hiort O, Sippell WG. Fölster-Holst R, et al. Among authors: hiort o. Hautarzt. 2006 Oct;57(10):893-7. doi: 10.1007/s00105-005-1040-4. Hautarzt. 2006. PMID: 16270203 German.

2

Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia.

Korsch E, Peter M, Hiort O, Sippell WG, Ure BM, Hauffa BP, Bergmann M. Korsch E, et al. Among authors: hiort o. J Clin Endocrinol Metab. 1999 May;84(5):1628-32. doi: 10.1210/jcem.84.5.5694. J Clin Endocrinol Metab. 1999. PMID: 10323391

3

Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome.

Holterhus PM, Wiebel J, Sinnecker GH, Brüggenwirth HT, Sippell WG, Brinkmann AO, Kruse K, Hiort O. Holterhus PM, et al. Among authors: hiort o. Pediatr Res. 1999 Dec;46(6):684-90. doi: 10.1203/00006450-199912000-00009. Pediatr Res. 1999. PMID: 10590024

4

Clinical, endocrine, and molecular genetic findings in patients with 17beta-hydroxysteroid dehydrogenase deficiency.

Twesten W, Holterhus P, Sippell WG, Morlot M, Schumacher H, Schenk B, Hiort O. Twesten W, et al. Among authors: hiort o. Horm Res. 2000;53(1):26-31. doi: 10.1159/000023509. Horm Res. 2000. PMID: 10965217

5

Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.

Ahrens W, Hiort O, Staedt P, Kirschner T, Marschke C, Kruse K. Ahrens W, et al. Among authors: hiort o. J Clin Endocrinol Metab. 2001 Oct;86(10):4630-4. doi: 10.1210/jcem.86.10.7946. J Clin Endocrinol Metab. 2001. PMID: 11600516

6

A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy.

Pohlenz J, Ahrens W, Hiort O. Pohlenz J, et al. Among authors: hiort o. Eur J Endocrinol. 2003 Apr;148(4):463-8. doi: 10.1530/eje.0.1480463. Eur J Endocrinol. 2003. PMID: 12656668

7

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.

Hiort O, Holterhus PM, Werner R, Marschke C, Hoppe U, Partsch CJ, Riepe FG, Achermann JC, Struve D. Hiort O, et al. J Clin Endocrinol Metab. 2005 Jan;90(1):538-41. doi: 10.1210/jc.2004-1059. Epub 2004 Oct 26. J Clin Endocrinol Metab. 2005. PMID: 15507506

8

Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.

Riepe FG, Ahrens W, Krone N, Fölster-Holst R, Brasch J, Sippell WG, Hiort O, Partsch CJ. Riepe FG, et al. Among authors: hiort o. Eur J Endocrinol. 2005 Apr;152(4):515-9. doi: 10.1530/eje.1.01879. Eur J Endocrinol. 2005. PMID: 15817905

9

Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy.

Ahrens W, Hiort O. Ahrens W, et al. Among authors: hiort o. J Pediatr Endocrinol Metab. 2006 May;19 Suppl 2:647-51. doi: 10.1515/jpem.2006.19.s2.647. J Pediatr Endocrinol Metab. 2006. PMID: 16789630

10

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. Among authors: hiort o. 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

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

266 results

Search Page

Filters