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Autosomal-dominant mode of inheritance of a melanocortin-4 receptor mutation in a patient with severe early-onset obesity is due to a dominant-negative effect caused by receptor dimerizationBIEBERMANN, Heike; KRUDE, Heiko; ELSNER, Andrea et al.Diabetes (New York, NY). 2003, Vol 52, Num 12, pp 2984-2988, issn 0012-1797, 5 p.Article

Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathyKÖHLER, Birgit; SCHUMACHER, Valerié; L'ALLEMAND, Dagmar et al.The Journal of pediatrics. 2001, Vol 138, Num 3, pp 421-424, issn 0022-3476Article

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

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

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex developmentTANTAWY, Sally; MAZEN, Inas; SCHRUMPF, Pamela et al.European journal of endocrinology. 2014, Vol 170, Num 5, pp 759-767, issn 0804-4643, 9 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

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

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

Hypothalamic and gonadal components of hypogonadism in boys with prader-labhart- willi syndromeEIHOLZER, Urs; L'ALLEMAND, Dagmar; ROUSSON, Valentin et al.The Journal of clinical endocrinology and metabolism. 2006, Vol 91, Num 3, pp 892-898, issn 0021-972X, 7 p.Article

Metformin and placebo therapy both improve weight management and fasting insulin in obese insulin-resistant adolescents: a prospective, placebo-controlled, randomized studyWIEGAND, Susanna; L'ALLEMAND, Dagmar; HÜBEL, Hanna et al.European journal of endocrinology. 2010, Vol 163, Num 4, pp 585-592, issn 0804-4643, 8 p.Article

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

Mutations in TITF-1 are associated with benign hereditary choreaBREEDVELD, Guido J; VAN DONGEN, Jeroen W. F; GRÜTERS, Annette et al.Human molecular genetics (Print). 2002, Vol 11, Num 8, pp 971-979, issn 0964-6906Article

Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the YoungRAILE, Klemens; KLOPOCKI, Eva; WEBER, Jürgen et al.The Journal of clinical endocrinology and metabolism. 2009, Vol 94, Num 7, pp 2658-2664, issn 0021-972X, 7 p.Article

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