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Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.
Calebiro D, Gelmini G, Cordella D, Bonomi M, Winkler F, Biebermann H, de Marco A, Marelli F, Libri DV, Antonica F, Vigone MC, Cappa M, Mian C, Sartorio A, Beck-Peccoz P, Radetti G, Weber G, Persani L. Calebiro D, et al. Among authors: biebermann h. J Clin Endocrinol Metab. 2012 Jan;97(1):E156-60. doi: 10.1210/jc.2011-1938. Epub 2011 Nov 2. J Clin Endocrinol Metab. 2012. PMID: 22049173
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
A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6.
Winkler F, Kleinau G, Tarnow P, Rediger A, Grohmann L, Gaetjens I, Krause G, L'Allemand D, Grüters A, Krude H, Biebermann H. Winkler F, et al. Among authors: biebermann h. J Clin Endocrinol Metab. 2010 Aug;95(8):3605-10. doi: 10.1210/jc.2010-0112. Epub 2010 May 25. J Clin Endocrinol Metab. 2010. PMID: 20501679
A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population.
Ochoa MC, Azcona C, Biebermann H, Brumm H, Razquin C, Wermter AK, Martínez JA, Hebebrand J, Hinney A, Moreno-Aliaga MJ, Marti A, Patiño A, Chueca M, Oyarzabal M, Pelach R; Grupo de Estudio Navarro de la Obesidad Infantil (GENOI). Ochoa MC, et al. Among authors: biebermann h. Clin Endocrinol (Oxf). 2007 May;66(5):652-8. doi: 10.1111/j.1365-2265.2007.02788.x. Clin Endocrinol (Oxf). 2007. PMID: 17492953 Free article.
152 results