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Results: 1 to 20 of 25

1.

Hypothesis: Persistently elevated hCG causes gestational ovarian overstimulation associated with prolonged postpartum hyperandrogenism in mothers of aromatase-deficient babies.

Riedl S, Springer A, Häusler G, Price G, Richter-Unruh A, Stener-Victorin E, Wudy SA.

J Clin Endocrinol Metab. 2013 Aug;98(8):3115-20. doi: 10.1210/jc.2012-3383. Epub 2013 Jul 3.

PMID:
23824416
2.

Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II.

Kossack N, Troppmann B, Richter-Unruh A, Kleinau G, Gromoll J.

Mol Cell Endocrinol. 2013 Feb 5;366(1):59-67. doi: 10.1016/j.mce.2012.11.018. Epub 2012 Dec 8.

PMID:
23232123
3.

Aromatase deficiency: rare cause of virilization.

Ludwikowski B, Heger S, Datz N, Richter-Unruh A, González R.

Eur J Pediatr Surg. 2013 Oct;23(5):418-22. doi: 10.1055/s-0032-1324798. Epub 2012 Oct 23. Review. No abstract available.

PMID:
23093430
4.

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C.

J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5.

PMID:
23043190
5.

Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene.

Boot AM, Lumbroso S, Verhoef-Post M, Richter-Unruh A, Looijenga LH, Funaro A, Beishuizen A, van Marle A, Drop SL, Themmen AP.

J Clin Endocrinol Metab. 2011 Jul;96(7):E1197-205. doi: 10.1210/jc.2010-3031. Epub 2011 Apr 13.

6.

No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.

Welzel M, Schwarz HP, Hedderich J, Dörr HG, Binder G, Brämswig JH, Krude H, Richter-Unruh A, Niedziela M, Gromoll J, Krone N, Riepe FG, Holterhus PM.

J Clin Endocrinol Metab. 2010 May;95(5):2443-50. doi: 10.1210/jc.2009-1338. Epub 2010 Mar 16.

PMID:
20233785
7.

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes.

Holterhus PM, Bebermeier JH, Werner R, Demeter J, Richter-Unruh A, Cario G, Appari M, Siebert R, Riepe F, Brooks JD, Hiort O.

BMC Genomics. 2009 Jul 1;10:292. doi: 10.1186/1471-2164-10-292.

8.

Sexual pseudo-precocity caused by a somatic activating mutation of the LH receptor preceding true sexual precocity.

Kiepe D, Richter-Unruh A, Autschbach F, Kessler M, Schenk JP, Bettendorf M.

Horm Res. 2008;70(4):249-53. doi: 10.1159/000151598. Epub 2008 Sep 5.

PMID:
18772599
9.

Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism.

Kossack N, Simoni M, Richter-Unruh A, Themmen AP, Gromoll J.

PLoS Med. 2008 Apr 22;5(4):e88. doi: 10.1371/journal.pmed.0050088.

10.

Altered transcription profiles of key-enzymes of androgen biosynthesis in genital skin fibroblasts from patients with 46,XY disorders of sex development (DSD).

Hoppe U, Wünsch L, Holterhus PM, Jocham D, Richter-Unruh A, Hiort O.

Sex Dev. 2007;1(4):230-7. doi: 10.1159/000104773.

PMID:
18391534
11.

Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate.

Jochumsen U, Werner R, Miura N, Richter-Unruh A, Hiort O, Holterhus PM.

Sex Dev. 2008;2(6):302-8. doi: 10.1159/000195679. Epub 2009 Mar 10.

12.

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.

Holterhus PM, Deppe U, Werner R, Richter-Unruh A, Bebermeier JH, Wünsch L, Krege S, Schweikert HU, Demeter J, Riepe F, Hiort O, Brooks JD.

BMC Genomics. 2007 Oct 18;8:376.

13.

A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.

Bahceci M, Ersay AR, Tuzcu A, Hiort O, Richter-Unruh A, Gokalp D.

Urology. 2005 Aug;66(2):407-10.

PMID:
16098368
14.

Clinical characteristics of type 2 diabetes mellitus in overweight European caucasian adolescents.

Reinehr T, Andler W, Kapellen T, Kiess W, Richter-Unruh A, Schönau E, Seewi O, Heinze E, Wabitsch M.

Exp Clin Endocrinol Diabetes. 2005 Mar;113(3):167-70.

PMID:
15789276
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17.

Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.

Richter-Unruh A, Verhoef-Post M, Malak S, Homoki J, Hauffa BP, Themmen AP.

J Clin Endocrinol Metab. 2004 Oct;89(10):5161-7.

PMID:
15472221
18.

Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation.

Knauer-Fischer SA, Richter-Unruh A, Albrecht B, Gillessen-Kaesbach G, Hauffa BP.

Clin Dysmorphol. 2004 Jul;13(3):183-6.

PMID:
15194957
19.

Increase of serum leptin after short-term pulsatile GnRH administration in children with delayed puberty.

Grasemann C, Wessels HT, Knauer-Fischer S, Richter-Unruh A, Hauffa BP.

Eur J Endocrinol. 2004 May;150(5):691-8.

20.

Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment.

Richter-Unruh A, Knauer-Fischer S, Kaspers S, Albrecht B, Gillessen-Kaesbach G, Hauffa BP.

Eur J Pediatr. 2004 Apr;163(4-5):251-6. Epub 2004 Feb 18.

PMID:
14986122
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