PubMed

Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design?

Heid IM, Huth C, Loos RJ, Kronenberg F, Adamkova V, Anand SS, Ardlie K, Biebermann H, Bjerregaard P, Boeing H, Bouchard C, Ciullo M, Cooper JA, Corella D, Dina C, Engert JC, Fisher E, Francès F, Froguel P, Hebebrand J, Hegele RA, Hinney A, Hoehe MR, Hu FB, Hubacek JA, Humphries SE, Hunt SC, Illig T, Järvelin MR, Kaakinen M, Kollerits B, Krude H, Kumar J, Lange LA, Langer B, Li S, Luchner A, Lyon HN, Meyre D, Mohlke KL, Mooser V, Nebel A, Nguyen TT, Paulweber B, Perusse L, Qi L, Rankinen T, Rosskopf D, Schreiber S, Sengupta S, Sorice R, Suk A, Thorleifsson G, Thorsteinsdottir U, Völzke H, Vimaleswaran KS, Wareham NJ, Waterworth D, Yusuf S, Lindgren C, McCarthy MI, Lange C, Hirschhorn JN, Laird N, Wichmann HE.

PLoS Genet. 2009 Oct;5(10):e1000694. Epub 2009 Oct 23.PMID: 19851442 [PubMed - in process]Related articlesFree article

Surface translocation and tri-iodothyronine uptake of mutant MCT8 proteins are cell type-dependent.

Kinne A, Roth S, Biebermann H, Köhrle J, Grüters A, Schweizer U.

J Mol Endocrinol. 2009 Dec;43(6):263-71. Epub 2009 Jul 31.PMID: 19648159 [PubMed - in process]Related articles

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 insufficiency.

Köhler B, Lin L, Mazen I, Cetindag C, Biebermann H, Akkurt I, Rossi R, Hiort O, Grüters A, Achermann JC.

Eur J Endocrinol. 2009 Aug;161(2):237-42. Epub 2009 May 13.PMID: 19439508 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity.

Roth CL, Ludwig M, Woelfle J, Fan ZC, Brumm H, Biebermann H, Tao YX.

Endocrine. 2009 Aug;36(1):52-9. Epub 2009 Feb 12.PMID: 19214805 [PubMed - indexed for MEDLINE]Related articles

Increased constraints on MC4R during primate and human evolution.

Hughes DA, Hinney A, Brumm H, Wermter AK, Biebermann H, Hebebrand J, Stoneking M.

Hum Genet. 2009 Jan;124(6):633-47. Epub 2008 Nov 15.PMID: 19011902 [PubMed - indexed for MEDLINE]Related articles

Lifestyle intervention in obese children with variations in the melanocortin 4 receptor gene.

Reinehr T, Hebebrand J, Friedel S, Toschke AM, Brumm H, Biebermann H, Hinney A.

Obesity (Silver Spring). 2009 Feb;17(2):382-9. Epub 2008 Nov 6.PMID: 18997677 [PubMed - indexed for MEDLINE]Related articles

V2 vasopressin receptor deficiency causes changes in expression and function of renal and hypothalamic components involved in electrolyte and water homeostasis.

Schliebe N, Strotmann R, Busse K, Mitschke D, Biebermann H, Schomburg L, Köhrle J, Bär J, Römpler H, Wess J, Schöneberg T, Sangkuhl K.

Am J Physiol Renal Physiol. 2008 Oct;295(4):F1177-90. Epub 2008 Aug 20.PMID: 18715941 [PubMed - indexed for MEDLINE]Related articlesFree article

G13-dependent activation of MAPK by thyrotropin.

Büch TR, Biebermann H, Kalwa H, Pinkenburg O, Hager D, Barth H, Aktories K, Breit A, Gudermann T.

J Biol Chem. 2008 Jul 18;283(29):20330-41. Epub 2008 Apr 29.PMID: 18445595 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.

Rajab A, Kelberman D, de Castro SC, Biebermann H, Shaikh H, Pearce K, Hall CM, Shaikh G, Gerrelli D, Grueters A, Krude H, Dattani MT.

Hum Mol Genet. 2008 Jul 15;17(14):2150-9. Epub 2008 Apr 10.PMID: 18407919 [PubMed - indexed for MEDLINE]Related articlesFree article

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.

Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, Biebermann H, Schnabel D, Grüters A, Achermann JC.

Hum Mutat. 2008 Jan;29(1):59-64.PMID: 17694559 [PubMed - indexed for MEDLINE]Related articlesFree article

Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor.

Stäubert C, Tarnow P, Brumm H, Pitra C, Gudermann T, Grüters A, Schöneberg T, Biebermann H, Römpler H.

Endocrinology. 2007 Oct;148(10):4642-8. Epub 2007 Jul 12.PMID: 17628007 [PubMed - indexed for MEDLINE]Related articlesFree article

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).

Clin Endocrinol (Oxf). 2007 May;66(5):652-8.PMID: 17492953 [PubMed - indexed for MEDLINE]Related articles

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.

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.

BMC Genet. 2007 May 3;8:17.PMID: 17477860 [PubMed - indexed for MEDLINE]Related articlesFree 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 hypothyroidism.

Al Taji E, Biebermann H, Límanová Z, Hníková O, Zikmund J, Dame C, Grüters A, Lebl J, Krude H.

Eur J Endocrinol. 2007 May;156(5):521-9.PMID: 17468187 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.

Rettenbacher E, Tarnow P, Brumm H, Prayer D, Wermter AK, Hebebrand J, Biebermann H, Hinney A, Widhalm K.

Exp Clin Endocrinol Diabetes. 2007 Jan;115(1):7-12.PMID: 17286227 [PubMed - indexed for MEDLINE]Related articles

N-ethyl-N-nitrosourea-based generation of mouse models for mutant G protein-coupled receptors.

Grosse J, Tarnow P, Römpler H, Schneider B, Sedlmeier R, Huffstadt U, Korthaus D, Nehls M, Wattler S, Schöneberg T, Biebermann H, Augustin M.

Physiol Genomics. 2006 Aug 16;26(3):209-17. Epub 2006 May 23.PMID: 16720677 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.

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, Schäfer H, Platzer M, Biebermann H, Meitinger T, Hebebrand J.

J Clin Endocrinol Metab. 2006 May;91(5):1761-9. Epub 2006 Feb 21.PMID: 16492696 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Cell Metab. 2006 Feb;3(2):141-6.PMID: 16459315 [PubMed - indexed for MEDLINE]Related articles

MC4R oligomerizes independently of extracellular cysteine residues.

Elsner A, Tarnow P, Schaefer M, Ambrugger P, Krude H, Grüters A, Biebermann H.

Peptides. 2006 Feb;27(2):372-9. Epub 2005 Nov 9.PMID: 16289450 [PubMed - indexed for MEDLINE]Related articles

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.

Biebermann H, Ambrugger P, Tarnow P, von Moers A, Schweizer U, Grueters A.

Eur J Endocrinol. 2005 Sep;153(3):359-66.PMID: 16131597 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation analysis of the MCHR1 gene in human obesity.

Wermter AK, Reichwald K, Büch 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, Sørensen TI, Astrup A, Larsen LH, Pedersen O, Eberlé D, Clément K, Blundell J, Wabitsch M, Schäfer H, Platzer M, Hinney A, Hebebrand J.

Eur J Endocrinol. 2005 Jun;152(6):851-62.PMID: 15941924 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutant G-protein-coupled receptors as a cause of human diseases.

Schöneberg T, Schulz A, Biebermann H, Hermsdorf T, Römpler H, Sangkuhl K.

Pharmacol Ther. 2004 Dec;104(3):173-206. Review.PMID: 15556674 [PubMed - indexed for MEDLINE]Related articles

Molecular genetic defects in congenital hypothyroidism.

Grüters A, Krude H, Biebermann H.

Eur J Endocrinol. 2004 Nov;151 Suppl 3:U39-44. Review.PMID: 15554885 [PubMed - indexed for MEDLINE]Related articlesFree article

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.

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.

Lancet. 2004 Oct 16-22;364(9443):1435-7.PMID: 15488219 [PubMed - indexed for MEDLINE]Related articles

Type 2 diabetes and impaired glucose tolerance in European children and adolescents with obesity -- a problem that is no longer restricted to minority groups.

Wiegand S, Maikowski U, Blankenstein O, Biebermann H, Tarnow P, Grüters A.

Eur J Endocrinol. 2004 Aug;151(2):199-206.PMID: 15296475 [PubMed - indexed for MEDLINE]Related articlesFree article

Melanocortin-4 receptor gene variant I103 is negatively associated with obesity.

Geller F, Reichwald K, Dempfle A, Illig T, Vollmert C, Herpertz S, Siffert W, Platzer M, Hess C, Gudermann T, Biebermann H, Wichmann HE, Schäfer H, Hinney A, Hebebrand J.

Am J Hum Genet. 2004 Mar;74(3):572-81. Epub 2004 Feb 17.PMID: 14973783 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Biebermann H, Krude H, Elsner A, Chubanov V, Gudermann T, Grüters A.

Diabetes. 2003 Dec;52(12):2984-8.PMID: 14633860 [PubMed - indexed for MEDLINE]Related articlesFree article

Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.

Krude H, Biebermann H, Schnabel D, Tansek MZ, Theunissen P, Mullis PE, Grüters A.

J Clin Endocrinol Metab. 2003 Oct;88(10):4633-40.PMID: 14557433 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutationally induced disulfide bond formation within the third extracellular loop causes melanocortin 4 receptor inactivation in patients with obesity.

Tarnow P, Schoneberg T, Krude H, Gruters A, Biebermann H.

J Biol Chem. 2003 Dec 5;278(49):48666-73. Epub 2003 Sep 22.PMID: 14504270 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the human proopiomelanocortin gene.

Krude H, Biebermann H, Gruters A.

Ann N Y Acad Sci. 2003 Jun;994:233-9. Review.PMID: 12851321 [PubMed - indexed for MEDLINE]Related articles

Neonatal thyroid disorders.

Grüters A, Biebermann H, Krude H.

Horm Res. 2003;59 Suppl 1:24-9. Review.PMID: 12566717 [PubMed - indexed for MEDLINE]Related articles

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.

J Clin Endocrinol Metab. 2002 Oct;87(10):4811-6.PMID: 12364478 [PubMed - indexed for MEDLINE]Related articlesFree article

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

Krude H, Schütz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tönnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Grüters A.

J Clin Invest. 2002 Feb;109(4):475-80.PMID: 11854319 [PubMed - indexed for MEDLINE]Related articlesFree article

The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism.

Biebermann H, Schöneberg T, Hess C, Germak J, Gudermann T, Grüters A.

J Clin Endocrinol Metab. 2001 Sep;86(9):4429-33.PMID: 11549687 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.

Ambrugger P, Stoeva I, Biebermann H, Torresani T, Leitner C, Grüters A.

Eur J Endocrinol. 2001 Jul;145(1):19-24.PMID: 11415848 [PubMed - indexed for MEDLINE]Related articlesFree article

[No title available]

Grüters A, Krude H, Biebermann H, Netchine And S Amselem I.

An Esp Pediatr. 2001 May;54(Supl 1):28-30. No abstract available. PMID: 11333501 [PubMed - as supplied by publisher]Free article

Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood.

Biebermann H, Schöneberg T, Krude H, Gudermann T, Grüters A.

Langenbecks Arch Surg. 2000 Oct;385(6):390-2.PMID: 11127522 [PubMed - indexed for MEDLINE]Related articles

Molecular pathogenesis of neonatal hypothyroidism.

Krude H, Biebermann H, Schnabel D, Ambrugger P, Grüters A.

Horm Res. 2000;53 Suppl 1:12-8. Review.PMID: 10895037 [PubMed - indexed for MEDLINE]Related articles

Severe congenital hypothyroidism due to a homozygous mutation of the betaTSH gene.

Biebermann H, Liesenkötter KP, Emeis M, Oblanden M, Grüters A.

Pediatr Res. 1999 Aug;46(2):170-3.PMID: 10447110 [PubMed - indexed for MEDLINE]Related articles

Alterations of neonatal thyroid function.

Grüters A, Krude H, Biebermann H, Liesenkötter KP, Schöneberg T, Gudermann T.

Acta Paediatr Suppl. 1999 Feb;88(428):17-22. Review.PMID: 10102047 [PubMed - indexed for MEDLINE]Related articles

A conserved tyrosine residue (Y601) in transmembrane domain 5 of the human thyrotropin receptor serves as a molecular switch to determine G-protein coupling.

Biebermann H, Schöneberg T, Schulz A, Krause G, Grüters A, Schultz G, Gudermann T.

FASEB J. 1998 Nov;12(14):1461-71.PMID: 9806755 [PubMed - indexed for MEDLINE]Related articlesFree article

V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.

Schöneberg T, Schulz A, Biebermann H, Grüters A, Grimm T, Hübschmann K, Filler G, Gudermann T, Schultz G.

Hum Mutat. 1998;12(3):196-205.PMID: 9711877 [PubMed - indexed for MEDLINE]Related articles

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.

Nat Genet. 1998 Jun;19(2):155-7.PMID: 9620771 [PubMed - indexed for MEDLINE]Related articles

Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.

Grüters A, Schöneberg T, Biebermann H, Krude H, Krohn HP, Dralle H, Gudermann T.

J Clin Endocrinol Metab. 1998 May;83(5):1431-6.PMID: 9589634 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.

Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A.

J Clin Endocrinol Metab. 1997 Oct;82(10):3471-80.PMID: 9329388 [PubMed - indexed for MEDLINE]Related articlesFree article

Congenital hypothyroidism caused by mutations in the thyrotropin-receptor gene.

Biebermann H, Grüters A, Schöneberg T, Gudermann T.

N Engl J Med. 1997 May 8;336(19):1390-1. No abstract available. PMID: 9139226 [PubMed - indexed for MEDLINE]Related articles

Congenital hyperthyroidism.

Krude H, Biebermann H, Krohn HP, Dralle H, Grüters A.

Exp Clin Endocrinol Diabetes. 1997;105 Suppl 4:6-11. Review.PMID: 9439907 [PubMed - indexed for MEDLINE]Related articles

Transient congenital hypothyroidism and hyperthyrotropinemia: normal thyroid function and physical development at the ages of 6-14 years.

Köhler B, Schnabel D, Biebermann H, Gruters A.

J Clin Endocrinol Metab. 1996 Apr;81(4):1563-7.PMID: 8636368 [PubMed - indexed for MEDLINE]Related articles

Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism.

Grüters A, Köhler B, Wolf A, Söling A, de Vijlder L, Krude H, Biebermann H.

Exp Clin Endocrinol Diabetes. 1996;104 Suppl 4:121-3.PMID: 8981018 [PubMed - indexed for MEDLINE]Related articles

The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis.

Krude H, Biebermann H, Göpel W, Grüters A.

Exp Clin Endocrinol Diabetes. 1996;104 Suppl 4:117-20. Review.PMID: 8981017 [PubMed - indexed for MEDLINE]Related articles