Biebermann H - Search Results

1

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.

Friesema EC, Grueters A, Biebermann H, Krude H, von Moers A, Reeser M, Barrett TG, Mancilla EE, Svensson J, Kester MH, Kuiper GG, Balkassmi S, Uitterlinden AG, Koehrle J, Rodien P, Halestrap AP, Visser TJ. Friesema EC, et al. Among authors: biebermann h. Lancet. 2004 Oct 16-22;364(9443):1435-7. doi: 10.1016/S0140-6736(04)17226-7. Lancet. 2004. PMID: 15488219

2

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

3

Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood.

Biebermann H, Schöneberg T, Krude H, Gudermann T, Grüters A. Biebermann H, et al. Langenbecks Arch Surg. 2000 Oct;385(6):390-2. doi: 10.1007/s004230000145. Langenbecks Arch Surg. 2000. PMID: 11127522

4

Neonatal thyroid disorders.

Grüters A, Biebermann H, Krude H. Grüters A, et al. Among authors: biebermann h. Horm Res. 2003;59 Suppl 1:24-9. doi: 10.1159/000067841. Horm Res. 2003. PMID: 12566717 Review.

5

Mutations in the human proopiomelanocortin gene.

Krude H, Biebermann H, Gruters A. Krude H, et al. Among authors: biebermann h. Ann N Y Acad Sci. 2003 Jun;994:233-9. doi: 10.1111/j.1749-6632.2003.tb03185.x. Ann N Y Acad Sci. 2003. PMID: 12851321 Review.

6

Mutationally induced disulfide bond formation within the third extracellular loop causes melanocortin 4 receptor inactivation in patients with obesity.

Tarnow P, Schoneberg T, Krude H, Gruters A, Biebermann H. Tarnow P, et al. Among authors: biebermann h. J Biol Chem. 2003 Dec 5;278(49):48666-73. doi: 10.1074/jbc.M309941200. Epub 2003 Sep 22. J Biol Chem. 2003. PMID: 14504270 Free article.

7

Molecular genetic defects in congenital hypothyroidism.

Grüters A, Krude H, Biebermann H. Grüters A, et al. Among authors: biebermann h. Eur J Endocrinol. 2004 Nov;151 Suppl 3:U39-44. doi: 10.1530/eje.0.151u039. Eur J Endocrinol. 2004. PMID: 15554885 Review.

8

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.

Biebermann H, Ambrugger P, Tarnow P, von Moers A, Schweizer U, Grueters A. Biebermann H, et al. Eur J Endocrinol. 2005 Sep;153(3):359-66. doi: 10.1530/eje.1.01980. Eur J Endocrinol. 2005. PMID: 16131597

9

Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information.

Kleinau G, Schweizer U, Kinne A, Köhrle J, Grüters A, Krude H, Biebermann H. Kleinau G, et al. Among authors: biebermann h. Thyroid Res. 2011 Aug 3;4 Suppl 1(Suppl 1):S4. doi: 10.1186/1756-6614-4-S1-S4. Thyroid Res. 2011. PMID: 21835051 Free PMC article.

10

Novel insights on thyroid-stimulating hormone receptor signal transduction.

Kleinau G, Neumann S, Grüters A, Krude H, Biebermann H. Kleinau G, et al. Among authors: biebermann h. Endocr Rev. 2013 Oct;34(5):691-724. doi: 10.1210/er.2012-1072. Epub 2013 May 3. Endocr Rev. 2013. PMID: 23645907 Free PMC article. Review.

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