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Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.

Krude H, Biebermann H, Luck W, Horn R, Brabant G, Grüters A. Krude H, et al. Among authors: gruters a. Nat Genet. 1998 Jun;19(2):155-7. doi: 10.1038/509. Nat Genet. 1998. PMID: 9620771

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Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.

Raile K, Klopocki E, Holder M, Wessel T, Galler A, Deiss D, Müller D, Riebel T, Horn D, Maringa M, Weber J, Ullmann R, Grüters A. Raile K, et al. Among authors: gruters a. J Clin Endocrinol Metab. 2009 Jul;94(7):2658-64. doi: 10.1210/jc.2008-2189. Epub 2009 May 5. J Clin Endocrinol Metab. 2009. PMID: 19417042

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Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hübner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers HH, Grüters A, Ullmann R, Krude H. Thorwarth A, et al. Among authors: gruters a. J Med Genet. 2014 Jun;51(6):375-87. doi: 10.1136/jmedgenet-2013-102248. Epub 2014 Apr 8. J Med Genet. 2014. PMID: 24714694 Free PMC article.

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A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.

Ruiz-Arana IL, Hübner A, Cetingdag C, Krude H, Grüters A, Fukami M, Biebermann H, Köhler B. Ruiz-Arana IL, et al. Among authors: gruters a. Sex Dev. 2015;9(2):80-5. doi: 10.1159/000371603. Epub 2015 Feb 3. Sex Dev. 2015. PMID: 25660412

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Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.

Tantawy S, Mazen I, Soliman H, Anwar G, Atef A, El-Gammal M, El-Kotoury A, Mekkawy M, Torky A, Rudolf A, Schrumpf P, Grüters A, Krude H, Dumargne MC, Astudillo R, Bashamboo A, Biebermann H, Köhler B. Tantawy S, et al. Among authors: gruters a. Eur J Endocrinol. 2014 Apr 10;170(5):759-67. doi: 10.1530/EJE-13-0965. Print 2014 May. Eur J Endocrinol. 2014. PMID: 24591553

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Associations between body mass, leptin, IGF-I and circulating adrenal androgens in children with obesity and premature adrenarche.

l'Allemand D, Schmidt S, Rousson V, Brabant G, Gasser T, Grüters A. l'Allemand D, et al. Among authors: gruters a. Eur J Endocrinol. 2002 Apr;146(4):537-43. doi: 10.1530/eje.0.1460537. Eur J Endocrinol. 2002. PMID: 11916623

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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: gruters a. J Clin Endocrinol Metab. 2002 Oct;87(10):4811-6. doi: 10.1210/jc.2002-020297. J Clin Endocrinol Metab. 2002. PMID: 12364478

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Interindividual Variation in DNA Methylation at a Putative POMC Metastable Epiallele Is Associated with Obesity.

Kühnen P, Handke D, Waterland RA, Hennig BJ, Silver M, Fulford AJ, Dominguez-Salas P, Moore SE, Prentice AM, Spranger J, Hinney A, Hebebrand J, Heppner FL, Walzer L, Grötzinger C, Gromoll J, Wiegand S, Grüters A, Krude H. Kühnen P, et al. Among authors: gruters a. Cell Metab. 2016 Sep 13;24(3):502-509. doi: 10.1016/j.cmet.2016.08.001. Epub 2016 Aug 25. Cell Metab. 2016. PMID: 27568547 Free article.

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Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.

Kühnen P, Turan S, Fröhler S, Güran T, Abali S, Biebermann H, Bereket A, Grüters A, Chen W, Krude H. Kühnen P, et al. Among authors: gruters a. J Clin Endocrinol Metab. 2014 Jan;99(1):E169-76. doi: 10.1210/jc.2013-2619. Epub 2013 Dec 20. J Clin Endocrinol Metab. 2014. PMID: 24248179

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A role for beta-melanocyte-stimulating hormone in human body-weight regulation.

Biebermann H, Castañeda TR, van Landeghem F, von Deimling A, Escher F, Brabant G, Hebebrand J, Hinney A, Tschöp MH, Grüters A, Krude H. Biebermann H, et al. Among authors: gruters a. Cell Metab. 2006 Feb;3(2):141-6. doi: 10.1016/j.cmet.2006.01.007. Cell Metab. 2006. PMID: 16459315 Free article.

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