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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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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.

PMID:
21490077
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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.

PMID:
19570224
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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.

PMID:
18433292
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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.

PMID:
19276632
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
17945006
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
15.

Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis.

Richter-Unruh A, Korsch E, Hiort O, Holterhus PM, Themmen AP, Wudy SA.

Eur J Endocrinol. 2005 Feb;152(2):255-9.

PMID:
15745934
[PubMed - indexed for MEDLINE]
Free Article
16.

Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.

Richter-Unruh A, Hauffa BP, Pfarr N, Pohlenz J.

Thyroid. 2004 Nov;14(11):971-4.

PMID:
15671778
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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.

PMID:
15132726
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]

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