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The Neuroendocrine Circuitry Controlled by POMC, MSH, and AGRPBIEBERMANN, Heike; KÜHNEN, Peter; KLEINAU, Gunnar et al.Handbook of experimental pharmacology. 2012, Vol 209, pp 47-75, issn 0171-2004, 29 p.Article

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Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8BIEBERMANN, Heike; AMBRUGGER, Petra; TARNOW, Patrick et al.European journal of endocrinology. 2005, Vol 153, Num 3, pp 359-366, issn 0804-4643, 8 p.Article

Type 2 diabetes and impaired glucose tolerance in european children and adolescents with obesity: a problem that is no longer restricted to minority groupsWIEGAND, Susanna; MAIKOWSKI, Ursula; BLANKENSTEIN, Oliver et al.European journal of endocrinology. 2004, Vol 151, Num 2, pp 199-206, issn 0804-4643, 8 p.Article

Congenital central hypothyroidism due to homozygous thyrotropin β 313Δt mutation is caused by a founder effectBRUMM, Harald; PFEUFER, Arne; BIEBERMANN, Heike et al.The Journal of clinical endocrinology and metabolism. 2002, Vol 87, Num 10, pp 4811-4816, issn 0021-972XArticle

Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidismAMBRUGGER, Petra; STOEVA, Iva; BIEBERMANN, Heike et al.European journal of endocrinology. 2001, Vol 145, Num 1, pp 19-24, issn 0804-4643Article

The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidismBIEBERMANN, Heike; SCHONEBERG, Torsten; HESS, Claudia et al.The Journal of clinical endocrinology and metabolism. 2001, Vol 86, Num 9, pp 4429-4433, issn 0021-972XArticle

Association of variants in gastric inhibitory polypeptide receptor gene with impaired glucose homeostasis in obese children and adolescents from BerlinSAUBER, Jeannine; GROTHE, Jessica; KRUDE, Heiko et al.European journal of endocrinology. 2010, Vol 163, Num 2, pp 259-264, issn 0804-4643, 6 p.Article

Increased constraints on MC4R during primate and human evolutionHUGHES, David A; HINNEY, Anke; BRUMM, Harald et al.Human genetics. 2009, Vol 124, Num 6, pp 633-647, issn 0340-6717, 15 p.Article

Evolutionary aspects in evaluating mutations in the melanocortin 4 receptorSTÄUBERT, Claudia; TARNOW, Patrick; BRUMM, Harald et al.Endocrinology (Philadelphia). 2007, Vol 148, Num 10, pp 4642-4648, issn 0013-7227, 7 p.Article

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutationsTANTAWY, Sally; LIN LIN; AKKURT, Ilker et al.European journal of endocrinology. 2012, Vol 167, Num 1, pp 125-130, issn 0804-4643, 6 p.Article

Mutation analysis of the MCHR1 gene in human obesityWERMTER, Anne-Kathrin; REICHWALD, Kathrin; SIEGFRIED, Wolfgang et al.European journal of endocrinology. 2005, Vol 152, Num 6, pp 851-862, issn 0804-4643, 12 p.Article

Obesity due to proopiomelanocortin deficiency: Three new cases and treatment trials with thyroid hormone and ACTH4-10KRUDE, Heiko; BIEBERMANN, Heike; SCHNABEL, Dirk et al.The Journal of clinical endocrinology and metabolism. 2003, Vol 88, Num 10, pp 4633-4640, issn 0021-972X, 8 p.Article

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Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing lossRAJAB, Anna; KELBERMAN, Daniel; KRUDE, Heiko et al.Human molecular genetics (Print). 2008, Vol 17, Num 14, pp 2150-2159, issn 0964-6906, 10 p.Article

Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism : identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidismAL TAJI, Eva; BIEBERMANN, Heike; LIMANOVA, Zdenka et al.European journal of endocrinology. 2007, Vol 156, Num 5, pp 521-529, issn 0804-4643, 9 p.Article

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardationFRIESEMA, Edith C. H; GRUETERS, Annette; KUIPER, George G. J. M et al.Lancet (British edition). 2004, Vol 364, Num 9443, pp 1435-1437, issn 0140-6736, 3 p.Article

Melanocortin-4 receptor gene variant 1103 is negatively associated with obesityGELLER, Frank; REICHWALD, Kathrin; BIEBERMANN, Heike et al.American journal of human genetics. 2004, Vol 74, Num 3, pp 572-581, issn 0002-9297, 10 p.Article

V2 vasopressin receptor deficiency causes changes in expression and function of renal and hypothalamic components involved in electrolyte and water homeostasisSCHLIEBE, Nicole; STROTMANN, Rainer; SCHÖNEBERG, Torsten et al.American journal of physiology. Renal physiology. 2008, Vol 64, Num 4, issn 1931-857X, F1177-F1190Article

MC4R oligomerizes independently of extracellular cysteine residuesELSNER, Andrea; TARNOW, Patrick; SCHAEFER, Michael et al.Peptides (New York, NY. 1980). 2006, Vol 27, Num 2, pp 372-379, issn 0196-9781, 8 p.Article

Plasma Bile Acids Are Associated with Energy Expenditure and Thyroid Function in HumansOCKENGA, Johann; VALENTINI, Luzia; TIETGE, Uwe J. F et al.The Journal of clinical endocrinology and metabolism. 2012, Vol 97, Num 2, pp 535-542, issn 0021-972X, 8 p.Article

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiencyKÖHLER, Birgit; LIN LIN; MAZEN, Inas et al.European journal of endocrinology. 2009, Vol 161, Num 2, pp 237-242, issn 0804-4643, 6 p.Article

Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from GermanyHINNEY, Anke; BETTECKEN, Thomas; VOLLMERT, Caren et al.The Journal of clinical endocrinology and metabolism. 2006, Vol 91, Num 5, pp 1761-1769, issn 0021-972X, 9 p.Article