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Items: 41

1.

Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.

Barbaro M, Bens S, Haake A, Peter M, Brämswig J, Holterhus PM, Lopez-Siguero JP, Menken U, Mix M, Sippell WG, Wedell A, Riepe FG.

Horm Res Paediatr. 2012;77(2):100-7. doi: 10.1159/000336344. Epub 2012 Mar 23.

2.

Serum concentrations of adrenal steroids and their precursors as a measure of maturity of adrenocortical function in very premature newborns.

Nykänen P, Heinonen K, Riepe FG, Sippell WG, Voutilainen R.

Horm Res Paediatr. 2010;74(5):358-64. doi: 10.1159/000314970. Epub 2010 Jul 7.

PMID:
20606393
3.

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

Krone N, Grötzinger J, Holterhus PM, Sippell WG, Schwarz HP, Riepe FG.

Horm Res. 2009;72(5):281-6. doi: 10.1159/000245930. Epub 2009 Oct 19.

PMID:
19844114
4.

Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.

Dhir V, Reisch N, Bleicken CM, Lebl J, Kamrath C, Schwarz HP, Grötzinger J, Sippell WG, Riepe FG, Arlt W, Krone N.

J Clin Endocrinol Metab. 2009 Aug;94(8):3058-64. doi: 10.1210/jc.2009-0172. Epub 2009 May 19.

PMID:
19454579
5.

Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

Bleicken C, Loidi L, Dhir V, Parajes S, Quinteiro C, Dominguez F, Grötzinger J, Sippell WG, Riepe FG, Arlt W, Krone N.

Hum Mutat. 2009 Feb;30(2):E443-50. doi: 10.1002/humu.20926.

PMID:
19058224
6.

Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.

Riepe FG, Hiort O, Grötzinger J, Sippell WG, Krone N, Holterhus PM.

J Clin Endocrinol Metab. 2008 Jul;93(7):2891-5. doi: 10.1210/jc.2007-2646. Epub 2008 Apr 29.

PMID:
18445671
7.

Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Riepe FG, Sippell WG.

Rev Endocr Metab Disord. 2007 Dec;8(4):349-63. Review.

PMID:
17885806
8.

Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.

Balsamo A, Cicognani A, Gennari M, Sippell WG, Menabò S, Baronio F, Riepe FG.

Eur J Endocrinol. 2007 Feb;156(2):249-56.

PMID:
17287415
9.

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.

Grischuk Y, Rubtsov P, Riepe FG, Grötzinger J, Beljelarskaia S, Prassolov V, Kalintchenko N, Semitcheva T, Peterkova V, Tiulpakov A, Sippell WG, Krone N.

J Clin Endocrinol Metab. 2006 Dec;91(12):4976-80. Epub 2006 Sep 19.

PMID:
16984992
10.

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, Peter M, Viemann M, Grötzinger J, Sippell WG, Fejes-Toth G, Krone N.

J Clin Endocrinol Metab. 2006 Nov;91(11):4552-61. Epub 2006 Sep 5.

PMID:
16954160
11.

[Acne infantum as presenting symptom of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency].

Harde V, Müller M, Sippell WG, Schwarz T, Fölster-Holst R.

J Dtsch Dermatol Ges. 2006 Aug;4(8):654-7. German.

PMID:
16895568
12.

Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.

Fernandes-Rosa FL, de Castro M, Latronico AC, Sippell WG, Riepe FG, Antonini SR.

J Clin Endocrinol Metab. 2006 Sep;91(9):3671-5. Epub 2006 Jun 6.

PMID:
16757525
13.

Long-term GnRH agonist treatment for female central precocious puberty does not impair reproductive function.

Heger S, Müller M, Ranke M, Schwarz HP, Waldhauser F, Partsch CJ, Sippell WG.

Mol Cell Endocrinol. 2006 Jul 25;254-255:217-20. Epub 2006 Jun 6.

PMID:
16757104
14.

Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.

Krone N, Grischuk Y, Müller M, Volk RE, Grötzinger J, Holterhus PM, Sippell WG, Riepe FG.

J Clin Endocrinol Metab. 2006 Jul;91(7):2682-8. Epub 2006 May 2.

PMID:
16670167
15.

Satoyoshi syndrome: a rare multisystemic disorder requiring systemic and symptomatic treatment.

Heger S, Kuester RM, Volk R, Stephani U, Sippell WG.

Brain Dev. 2006 Jun;28(5):300-4. Epub 2006 Feb 14.

PMID:
16478652
16.

Disproportionate stature but normal height in hypochondroplasia.

Riepe FG, Krone N, Sippell WG.

Eur J Pediatr. 2005 Jun;164(6):397-9. Epub 2005 Mar 15. No abstract available.

PMID:
15909185
17.

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.

Krone N, Riepe FG, Dörr HG, Morlot M, Rudorff KH, Drop SL, Weigel J, Pura M, Kreze A, Boronat M, de Luca F, Tiulpakov A, Partsch CJ, Peter M, Sippell WG.

Hum Mutat. 2005 May;25(5):502-3.

PMID:
15841486
18.
19.

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.

Eur J Endocrinol. 2005 Apr;152(4):515-9.

PMID:
15817905
20.

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.

Krone N, Riepe FG, Götze D, Korsch E, Rister M, Commentz J, Partsch CJ, Grötzinger J, Peter M, Sippell WG.

J Clin Endocrinol Metab. 2005 Jun;90(6):3724-30. Epub 2005 Mar 8.

PMID:
15755848
21.

Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.

Riepe FG, Tatzel S, Sippell WG, Pleiss J, Krone N.

Endocrinology. 2005 Jun;146(6):2563-74. Epub 2005 Feb 24.

PMID:
15731361
22.

Gonadotropin-releasing hormone analogue treatment for precocious puberty. Twenty years of experience.

Heger S, Sippell WG, Partsch CJ.

Endocr Dev. 2005;8:94-125. doi: 10.1159/000084097. Review.

PMID:
15722620
23.

Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.

Vallette-Kasic S, Brue T, Pulichino AM, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enjalbert A, Drouin J.

J Clin Endocrinol Metab. 2005 Mar;90(3):1323-31. Epub 2004 Dec 21.

PMID:
15613420
24.

Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Krone N, Riepe FG, Grötzinger J, Partsch CJ, Sippell WG.

J Clin Endocrinol Metab. 2005 Jan;90(1):445-54. Epub 2004 Oct 13.

PMID:
15483094
25.

Long-term follow-up of spontaneous development in a boy with familial male precocious puberty.

Partsch CJ, Krone N, Riepe FG, Gromoll J, Sippell WG.

Horm Res. 2004;62(4):177-81. Epub 2004 Sep 15.

PMID:
15375328
26.

Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: exclusion of claudin-8 as a candidate gene.

Huey CL, Riepe FG, Sippell WG, Yu AS.

Am J Nephrol. 2004 Sep-Oct;24(5):483-7. Epub 2004 Sep 2.

PMID:
15345917
27.

Treatment of pubertal gynecomastia with the specific aromatase inhibitor anastrozole.

Riepe FG, Baus I, Wiest S, Krone N, Sippell WG, Partsch CJ.

Horm Res. 2004;62(3):113-8. Epub 2004 Jul 20.

PMID:
15273427
28.

Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene.

Riepe FG, Krone N, Morlot M, Peter M, Sippell WG, Partsch CJ.

J Clin Endocrinol Metab. 2004 May;89(5):2150-2.

PMID:
15126534
29.

Selecting girls with precocious puberty for brain imaging: validation of European evidence-based diagnosis rule.

Chalumeau M, Hadjiathanasiou CG, Ng SM, Cassio A, Mul D, Cisternino M, Partsch CJ, Theodoridis C, Didi M, Cacciari E, Oostdijk W, Borghesi A, Sippell WG, Bréart G, Brauner R.

J Pediatr. 2003 Oct;143(4):445-50.

PMID:
14571217
31.

Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.

Pulichino AM, Vallette-Kasic S, Couture C, Gauthier Y, Brue T, David M, Malpuech G, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, Drouin J.

Genes Dev. 2003 Mar 15;17(6):711-6.

32.
33.

Management of congenital adrenal hyperplasia: results of the ESPE questionnaire.

Riepe FG, Krone N, Viemann M, Partsch CJ, Sippell WG.

Horm Res. 2002;58(4):196-205.

PMID:
12324719
34.

Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society.

Clayton PE, Miller WL, Oberfield SE, Ritzén EM, Sippell WG, Speiser PW; ESPE/ LWPES CAH Working Group.

Horm Res. 2002;58(4):188-95. Review. No abstract available.

PMID:
12324718
35.

Central precocious puberty in girls with Williams syndrome.

Partsch CJ, Japing I, Siebert R, Gosch A, Wessel A, Sippell WG, Pankau R.

J Pediatr. 2002 Sep;141(3):441-4.

PMID:
12219071
36.
37.

Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.

Krone N, Braun A, Weinert S, Peter M, Roscher AA, Partsch CJ, Sippell WG.

Clin Chem. 2002 Jun;48(6 Pt 1):818-25.

38.

Treatment of central precocious puberty.

Partsch CJ, Sippell WG.

Best Pract Res Clin Endocrinol Metab. 2002 Mar;16(1):165-89. Review.

PMID:
11987906
40.

Management and outcome of central precocious puberty.

Partsch CJ, Heger S, Sippell WG.

Clin Endocrinol (Oxf). 2002 Feb;56(2):129-48. Review. No abstract available.

PMID:
11874402
41.

Screening for Turner's syndrome by chromosome analysis of all girls with short stature.

Partsch CJ, Raffenberg U, Sippell WG.

J Pediatr. 2002 Jan;140(1):140-1. No abstract available.

PMID:
11815780

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