Biebermann H - Search Results

1

Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.

Lábadi Á, Grassi ES, Gellén B, Kleinau G, Biebermann H, Ruzsa B, Gelmini G, Rideg O, Miseta A, Kovács GL, Patócs A, Felszeghy E, Nagy EV, Mezősi E, Persani L. Lábadi Á, et al. Among authors: biebermann h. J Clin Endocrinol Metab. 2015 Jul;100(7):E1039-45. doi: 10.1210/jc.2014-4511. Epub 2015 May 15. J Clin Endocrinol Metab. 2015. PMID: 25978107

2

The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis.

Krude H, Biebermann H, Göpel W, Grüters A. Krude H, et al. Among authors: biebermann h. Exp Clin Endocrinol Diabetes. 1996;104 Suppl 4:117-20. doi: 10.1055/s-0029-1211717. Exp Clin Endocrinol Diabetes. 1996. PMID: 8981017 Review.

3

Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.

Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A. Biebermann H, et al. J Clin Endocrinol Metab. 1997 Oct;82(10):3471-80. doi: 10.1210/jcem.82.10.4286. J Clin Endocrinol Metab. 1997. PMID: 9329388

4

Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.

Grüters A, Schöneberg T, Biebermann H, Krude H, Krohn HP, Dralle H, Gudermann T. Grüters A, et al. Among authors: biebermann h. J Clin Endocrinol Metab. 1998 May;83(5):1431-6. doi: 10.1210/jcem.83.5.4776. J Clin Endocrinol Metab. 1998. PMID: 9589634

5

Alterations of neonatal thyroid function.

Grüters A, Krude H, Biebermann H, Liesenkötter KP, Schöneberg T, Gudermann T. Grüters A, et al. Among authors: biebermann h. Acta Paediatr Suppl. 1999 Feb;88(428):17-22. doi: 10.1111/j.1651-2227.1999.tb14346.x. Acta Paediatr Suppl. 1999. PMID: 10102047 Review.

6

The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism.

Biebermann H, Schöneberg T, Hess C, Germak J, Gudermann T, Grüters A. Biebermann H, et al. J Clin Endocrinol Metab. 2001 Sep;86(9):4429-33. doi: 10.1210/jcem.86.9.7888. J Clin Endocrinol Metab. 2001. PMID: 11549687

7

Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.

Brumm H, Pfeufer A, Biebermann H, Schnabel D, Deiss D, Grüters A. Brumm H, et al. Among authors: biebermann h. J Clin Endocrinol Metab. 2002 Oct;87(10):4811-6. doi: 10.1210/jc.2002-020297. J Clin Endocrinol Metab. 2002. PMID: 12364478

8

Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor.

Stäubert C, Tarnow P, Brumm H, Pitra C, Gudermann T, Grüters A, Schöneberg T, Biebermann H, Römpler H. Stäubert C, et al. Among authors: biebermann h. Endocrinology. 2007 Oct;148(10):4642-8. doi: 10.1210/en.2007-0138. Epub 2007 Jul 12. Endocrinology. 2007. PMID: 17628007

9

A heterozygous mutation in the third transmembrane domain causes a dominant-negative effect on signalling capability of the MC4R.

Tarnow P, Rediger A, Brumm H, Ambrugger P, Rettenbacher E, Widhalm K, Hinney A, Kleinau G, Schaefer M, Hebebrand J, Krause G, Grüters A, Biebermann H. Tarnow P, et al. Among authors: biebermann h. Obes Facts. 2008;1(3):155-62. doi: 10.1159/000138251. Epub 2008 Jun 20. Obes Facts. 2008. PMID: 20054175 Free PMC article.

10

Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis.

Thorwarth A, Mueller I, Biebermann H, Ropers HH, Grueters A, Krude H, Ullmann R. Thorwarth A, et al. Among authors: biebermann h. J Clin Endocrinol Metab. 2010 Jul;95(7):3446-52. doi: 10.1210/jc.2009-2195. Epub 2010 Apr 28. J Clin Endocrinol Metab. 2010. PMID: 20427504

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