2007

124: Friedel S, Reichwald K, Scherag A, Brumm H, Wermter AK, Fries HR, Koberwitz K, Wabitsch M, Meitinger T, Platzer M, Biebermann H, Hinney A, Hebebrand J.
Abstract Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.
BMC Genet. 2007 May 3;8(1):17
123: Al Taji E, Biebermann H, Limanova Z, Hnikova O, Zikmund J, Dame C, Gruters A, Lebl J, Krude H.
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 hypothyroidism.
Eur J Endocrinol. 2007 May;156(5):521-9.
122: M. C. Ochoa, C. Azcona, H. Biebermann, H. Brumm, C. Razquin, A.-K. Wermter, J. A. Martínez, J. Hebebrand, A. Hinney, M. J. Moreno-Aliaga, A. Marti and Grupo de Estudio Navarro de la Obesidad Infantil (GENOI)
A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population
Clinical Endocrinology (2007) 66, 652–658
119: Rettenbacher E, Tarnow P, Brumm H, Prayer D, Wermter AK, Hebebrand J, Biebermann H, Hinney A, Widhalm K.
A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.
Exp Clin Endocrinol Diabetes. 2007 Jan;115(1):7-12.


2006

112: Grosse J, Tarnow P, Rompler H, Schneider B, Sedlmeier R, Huffstadt U, Korthaus D, Nehls M, Wattler S, Schoneberg T, Biebermann H, Augustin M.
N-Ethyl-N-Nitrosurea-Based Generation of Mouse Models for Mutant G-Protein-Coupled Receptors.
Physiol Genomics. 2006 May 23;
111: Hinney A, Bettecken T, Tarnow P, Brumm H, Reichwald K, Lichtner P, Scherag A, Nguyen TT, Schlumberger P, Rief W, Vollmert C, Illig T, Wichmann HE, Schafer H, Platzer M, Biebermann H, Meitinger T, Hebebrand J.
Prevalence, Spectrum and Functional Characterization of Melanocortin-4 Receptor Gene Mutations in a Representative Population-based Sample and Obese Adults from Germany.
J Clin Endocrinol Metab. 2006 May;91(5):1761-9.
107: Biebermann H, Castaneda TR, van Landeghem F, von Deimling A, Escher F, Brabant G, Hebebrand J, Hinney A, Tschop MH, Gruters A, Krude H.
A role for beta-melanocyte-stimulating hormone in human body-weight regulation.
Cell Metab. 2006 Feb;3(2):141-6.


2005

101: Elsner A, Tarnow P, Schaefer M, Ambrugger P, Krude H, Gruters A, Biebermann H.
MC4R oligomerizes independently of extracellular cysteine residues.
Peptides. 2005 Nov 7
100: Biebermann H, Ambrugger P, Tarnow P, von Moers A, Schweizer U, Grueters A.
Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.
Eur J Endocrinol. 2005 Sep;153(3):359-366.
99: Wermter AK, Reichwald K, Buch T, Geller F, Platzer C, Huse K, Hess C, Remschmidt H, Gudermann T, Preibisch G, Siegfried W, Goldschmidt HP, Li WD, Price RA, Biebermann H, Krude H, Vollmert C, Wichmann HE, Illig T, Sorensen TI, Astrup A, Larsen LH, Pedersen O, Eberle D, Clement K, Blundell J, Wabitsch M, Schafer H, Platzer M, Hinney A, Hebebrand J.
Mutation analysis of the MCHR1 gene in human obesity.
Eur J Endocrinol. 2005 Jun;152(6):851-62.


2004

87: Schoneberg T, Schulz A, Biebermann H, Hermsdorf T, Rompler H, Sangkuhl K.
Mutant G-protein-coupled receptors as a cause of human diseases.
Pharmacol Ther. 2004 Dec;104(3):173-206.
86: 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.
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
Lancet. 2004 Oct 16;364(9443):1435-7.
85: Gruters A, Krude H, Biebermann H.
Molecular genetic defects in congenital hypothyroidism.
Eur J Endocrinol. 2004 Nov;151 Suppl 3:U39-44.
84: Schmutzler C, Hamann I, Hofmann PJ, Kovacs G, Stemmler L, Mentrup B, Schomburg L, Ambrugger P, Gruters A, Seidlova-Wuttke D, Jarry H, Wuttke W, Kohrle J.
Endocrine active compounds affect thyrotropin and thyroid hormone levels in serum as well as endpoints of thyroid hormone action in liver, heart and kidney.
Toxicology. 2004 Dec 1;205(1-2):95-102.
82: Wiegand S, Maikowski U, Blankenstein O, Biebermann H, Tarnow P, Gruters A.
Type 2 diabetes and impaired glucose tolerance in European children and adolescents with obesity - a problem that is no longer restricted to minority groups.
Eur J Endocrinol. 2004 Aug;151(2):199-206.
80: Geller F, Reichwald K, Dempfle A, Illig T, Vollmert C, Herpertz S, Siffert W, Platzer M, Hess C, Gudermann T, Biebermann H, Wichmann HE, Schafer H, Hinney A, Hebebrand J.
Melanocortin-4 receptor gene variant I103 is negatively associated with obesity.
Am J Hum Genet. 2004 Mar;74(3):572-81. Epub 2004 Feb 17.


2003

75: Biebermann H, Krude H, Elsner A, Chubanov V, Gudermann T, Gruters A.
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 Dimerization.
Diabetes. 2003 Dec;52(12):2984-2988.
74: Krude H, Biebermann H, Schnabel D, Tansek MZ, Theunissen P, Mullis PE, Gruters A.
Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.
J Clin Endocrinol Metab. 2003 Oct;88(10):4633-40.
72: Tarnow P, Schoneberg T, Krude H, Gruters A, Biebermann H.
Mutationally Induced Disulfide Bond Formation within the Third Extracellular Loop Causes Melanocortin 4 Receptor Inactivation in Patients with Obesity.
J Biol Chem. 2003 Dec 5;278(49):48666-48673. Epub 2003 Sep 22.
71: Krude, H, Biebermann, H, Gruters A
Mutations in the human proopiomelanocortin gene.
Ann N Y Acad Sci. 2003 Jun;994:233-9.
69: Gruters A, Biebermann H, Krude H.
Neonatal thyroid disorders.
Horm Res. 2003;59 Suppl 1:24-9.


2002

67: Brumm H, Pfeufer A, Biebermann H, Schnabel D, Deiss D, Gruters A. Related Articles,
Congenital central hypothyroidism due to homozygous thyrotropin b 313DT mutation is caused by a founder effect.
J Clin Endocrinol Metab. 2002 Oct;87(10):4811-6.
PMID: 12364478 [PubMed - indexed for MEDLINE]
62: Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tonnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Gruters A. Related Articles
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
J Clin Invest. 2002 Feb;109(4):475-80.