Charité - Institut für Experimentelle Pädiatrische Endokrinologie

Stand: 9. August 2008

2008

134: 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.
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
Hum Mol Genet. 2008 Jul 15;17(14):2150-9.

133: Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Lèger A, Goudie D, Polak M, Grüters A, Visser TJ.
Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
N Engl J Med. 2008 Apr 24;358(17):1811-8.

2007

132: Grüters A, Krude H.
Update on the management of congenital hypothyroidism.
Horm Res. 2007;68 Suppl 5:107-11. Epub 2007 Dec 10.

131: Schmutzler C, Gotthardt I, Hofmann PJ, Radovic B, Kovacs G, Stemmler L, Nobis I, Bacinski A, Mentrup B, Ambrugger P, Grüters A, Malendowicz LK, Christoffel J, Jarry H, Seidlovà-Wuttke D, Wuttke W, Köhrle J.
Free in PMC Endocrine disruptors and the thyroid gland--a combined in vitro and in vivo analysis of potential new biomarkers.
Environ Health Perspect. 2007 Dec;115 Suppl 1:77-83.

130: Wiegand S, Richardt A, Remer T, Wudy SA, Tomlinson JW, Hughes B, Gruters A, Stewart PM, Strasburger CJ, Quinkler M.
Reduced 11{beta}-hydroxysteroid dehydrogenase type 1 activity in obese boys.
Eur J Endocrinol. 2007 Sep;157(3):319-324.

129: Kohler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schroder V, Biebermann H, Schnabel D, Gruters A, Achermann JC.
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
Hum Mutat. 2007 Aug 10; [Epub ahead of print]

128: Kohler B, Delezoide AL, Boizet-Bonhoure B, McPhaul MJ, Sultan C, Lumbroso S.
Coexpression of Wilms' tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1.
J Mol Endocrinol. 2007 May;38(5):547-54.

127: Gruters A.
Thyroid hormone transporter defects.
Endocr Dev. 2007;10:118-26.

126: Staubert C, Tarnow P, Brumm H, Pitra C, Gudermann T, Gruters A, Schoneberg T, Biebermann H, Rompler H.
Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor.
Endocrinology. 2007 Jul 12[Epub]

125: Schmutzler C, Bacinski A, Gotthardt I, Huhne K, Ambrugger P, Klammer H, Schlecht C, Hoang-Vu C, Gruters A, Wuttke W, Jarry H, Kohrle J.
The ultraviolet filter benzophenone 2 interferes with the thyroid hormone axis in rats and is a potent in vitro inhibitor of human recombinant thyroid peroxidase.
Endocrinology. 2007 Jun;148(6):2835-44.

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.
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

121: Jansen J, Friesema EC, Kester MH, Milici C, Reeser M, Gruters A, Barrett TG, Mancilla EE, Svensson J, Wemeau JL, da Silva Canalli MH, Lundgren J, McEntagart ME, Hopper N, Arts WF, Visser TJ.
Functional analysis of MCT8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.
J Clin Endocrinol Metab. 2007 Mar 13;

120: Wiefel A, Titze K, Kuntze L, Winter M, Seither C, Witte B, Lenz K, Gruters A, Lehmkuhl U.
Diagnostic classification of mental disorders in infants and toddlers age 0 to 5
Prax Kinderpsychol Kinderpsychiatr. 2007;56(1):59-81.

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

118: Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Gruters A, Lenzner S, Jensen LR, Ruschendorf F, Kuss AW, Ropers HH.
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Hum Genet. 2006 Nov 21; [Epub ahead of print]

117: Alt B, Elsalini OA, Schrumpf P, Haufs N, Lawson ND, Schwabe GC, Mundlos S, Gruters A, Krude H, Rohr KB.
Arteries define the position of the thyroid gland during its developmental relocalisation.
Development. 2006 Oct;133(19):3797-804.

116: Bechtold S, Dirlenbach I, Raile K, Noelle V, Bonfig W, Schwarz HP.
Early Manifestation of Type 1 Diabetes in Children Is a Risk Factor for Changed Bone Geometry: Data Using Peripheral Quantitative Computed Tomography.
Pediatrics. 2006 Aug 14; [Epub ahead of print]

115: Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile K, Hennies HC, Horn D.
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
J Med Genet. 2006 May;43(5):e22.

114: Raile K, Klammt J, Garten A, Laue S, Bluher M, Kralisch S, Kloting N, Kiess W.
Glucose regulates expression of the nerve growth factor (NGF) receptors TrkA and p75NTR in rat islets and INS-1E beta-cells.
Regul Pept. 2006 Jul 15;135(1-2):30-8. Epub 2006 Apr 27.

113: Raile K, Klammt J, Schneider A, Keller A, Laue S, Smith R, Pfaffle R, Kratzsch J, Keller E, Kiess W.
Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.
J Clin Endocrinol Metab. 2006 Jun;91(6):2264-71. Epub 2006 Mar 28.

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.

110: Ciana G, Trappan A, Bembi B, Benettoni A, Maso G, Zennaro F, Ruf N, Schnabel D, Rutsch F.
Generalized arterial calcification of infancy: two siblings with prolonged survival.
Eur J Pediatr. 2006 Apr;165(4):258-263.

109: Eiholzer U, l'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Gruters A, Simoni M.
Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart- Willi syndrome.
J Clin Endocrinol Metab. 2006 Mar;91(3):892-8.

108: Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM.
Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3.
Am J Hum Genet. 2006 Feb;78(2):193-201.

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

106: Kiess W, Kratzsch J, Keller E, Schneider A, Raile K, Klammt J, Seidel B, Garten A, Schmidt H, Pfaffle R.
Clinical examples of disturbed IGF signaling: intrauterine and postnatal growth retardation due to mutations of the insulin-like growth factor I receptor (IGF-IR) gene.
Rev Endocr Metab Disord. 2005 Aug;6(3):183-7.

105: Raile K, Stobbe H, Trobs RB, Kiess W, Pfaffle R.
A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.
Eur J Endocrinol. 2005 Sep;153(3):353-8.

104: Raile K, Klammt J, Laue S, Garten A, Bluher M, Kralisch S, Kloting N, Kiess.
W. Glucose concentration and AMP-dependent kinase activation regulate expression of insulin receptor family members in rat islets and INS-1E beta cells.
Diabetologia. 2005 Sep;48(9):1798-809.

103: Wiegand S, Dannemann A, Krude H, Gruters A.
Impaired glucose tolerance and type 2 diabetes mellitus: a new field for pediatrics in Europe.
Int J Obes (Lond). 2005 Sep;29 Suppl 2:S136-42.

102: Schnabel D, Haffner D.
Rickets. Diagnosis and therapy
Orthopäde. 2005 Jul;34(7):703-14; quiz 715-6.

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.

98: Czernichow P, Clayton P, Gruters A, Soder O.
New section: novel insights from clinical experience.
Horm Res. 2005;63(4):193. Epub 2005 Apr 25.

97: Gruters A.
The pediatric-to-adult transit clinic as a quality-securing measure in endocrinological diseases
MMW Fortschr Med. 2005 Mar 10;147(10):29, 31-2. German.

96: Wiegand S, Dannemann A, Vahabzadeh Z, Ernst M, Krude H, Gruters A.
Who needs what? New approaches to multidisciplinary diagnostics and therapy for adipose children and youths in a multiethnic city.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2005 Mar;48(3):307-314.

95: Speiser PW, Rudolf MC, Anhalt H, Camacho-Hubner C, Chiarelli F, Eliakim A, Freemark M, Gruters A, Hershkovitz E, Iughetti L, Krude H, Latzer Y, Lustig RH, Pescovitz OH, Pinhas-Hamiel O, Rogol AD, Shalitin S, Sultan C, Stein D, Vardi P, Werther GA, Zadik Z, Zuckerman-Levin N, Hochberg Z.
Childhood Obesity.
J Clin Endocrinol Metab. 2005 Mar;90(3):1871-1887. Epub 2004 Dec 14.

94: Köhler B, Lumbroso S, Leger J, Audran F, Grau ES, Kurtz F, Pinto G, Salerno M, Semitcheva T, Czernichow P, Sultan C.
Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling.
J Clin Endocrinol Metab. 2005 Jan;90(1):106-11.

93: Trimborn M, Grueters A, Neitzel H, Tonnies H.
First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature.
Cytogenet Genome Res. 2005;108(4):278-82.

2004

92: Kapellen TM, Bottner A, Galler A, Raile K, Nietzschmann U, Kiess W..
Treatment of adolescents with type 2 diabetes
Klin Padiatr. 2004 Mar-Apr;216(2):57-61.

91: Kiess W, Bottner A, Bluher S, Raile K, Galler A, Kapellen TM.
Type 2 diabetes mellitus in children and adolescents--the beginning of a renal catastrophe?
Nephrol Dial Transplant. 2004 Nov;19(11):2693-6.

90: Kiess W, Raile K, Galler A, Kapellen T.
Insulin detemir offers improved glycemic control compared with NPH insulin in people with type 1 diabetes.
Diabetes Care. 2004 Oct;27(10):2567-8.

89: Ahrens P, Kattner E, Kohler B, Hartel C, Seidenberg J, Segerer H, Moller J, Gopel W; Genetic Factors in Neonatology Study Group
Mutations of genes involved in the innate immune system as predictors of sepsis in very low birth weight infants.
Pediatr Res. 2004 Apr;55(4):652-6.

88: B. Köhler, C. Pienkowski, F. Audran, C. Delsol, M. Tauber, F. Paris, C. Sultan and S. Lumbroso
An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects.
Eur J Endocrinol 2004, Jun; 150(6):825-30..

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.

83: von Heppe JH, Krude H, L'Allemand D, Schnabel D, Gruters A.
Abstract The use of L-T4 as liquid solution improves the practicability and individualized dosage in newborns and infants with congenital hypothyroidism.
J Pediatr Endocrinol Metab. 2004 Jul;17(7):967-74.

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.

81: Gruters A.
[Characteristic features of autoimmune thyroid disease in children]
Z Arztl Fortbild Qualitatssich. 2004 May;98 Suppl 5:67-71. German.

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

79: Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, Chernausek SD;
Intrauterine Growth Retardation (IUGR) Study Group. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
N Engl J Med. 2003 Dec 4;349(23):2211-22.

78: C. Hanke, A. Lohaus, C. Gawrilow, I. Hartke, B. Köhler and A. Leonhardt: Preschool development of very low birth weight children born 1994-1995.
Eur J Pediatr 162: 159-64, 2003.

77: Abraham K, Muller C, Gruters A, Wahn U, Schweigert FJ.: Minimal inflammation, acute phase response and avoidance of misclassification of vitamin A and iron status in infants--importance of a high-sensitivity C-reactive protein (CRP) assay.
Int J Vitam Nutr Res. 2003 Nov;73(6):423-30.

76: Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Hohne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nurnberg P.: Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Nat Genet. 2003 Aug;34(4):379-81.

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.

73: Muther S, Krude H, Jager R, Rhode W, Gruters A, Rossi R.: [Hypothyroidism in dizygotic premature twins due to excessive prepartal vaginal iodine application]
Zentralbl Gynakol. 2003 Jun;125(6):226-8. German.

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.

70: Kabelitz M, Liesenkotter KP, Stach B, Willgerodt H, Stablein W, Singendonk W, Jager-Roman E, Litzenborger H, Ehnert B, Gruters A.: The prevalence of anti-thyroid peroxidase antibodies and autoimmune thyroiditis in children and adolescents in an iodine replete area.
Eur J Endocrinol. 2003 Mar;148(3):301-307.

69: Gruters A, Biebermann H, Krude H.: Neonatal thyroid disorders.
Horm Res. 2003;59 Suppl 1:24-9.

2002

68: Schulz A, Sangkuhl K, Lennert T, Wigger M, Price DA, Nuuja A, Gruters A, Schultz G, Schoneberg T. Related Articles,: Aminoglycoside pretreatment partially restores the function of truncated v(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus.
J Clin Endocrinol Metab. 2002 Nov;87(11):5247-57.
PMID: 12414899 [PubMed - in process]

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]

66: Gruters A, Jenner A, Krude H. Related Articles: Long-term consequences of congenital hypothyroidism in the era of screening programmes.
Best Pract Res Clin Endocrinol Metab. 2002 Jun;16(2):369-82. Review.

65: Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Gruters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P. Related Articles: Mutations in TITF-1 are associated with benign hereditary chorea.
Hum Mol Genet. 2002 Apr 15;11(8):971-9.
PMID: 11971878 [PubMed - in process]

64: Gruters A, Wiegand S, Krude H. Related Articles: [Gene, fast food and no motion. Causes of childhood obesity]
MMW Fortschr Med. 2002 Feb 28;144(9):34-6. German.
PMID: 11921649 [PubMed - indexed for MEDLINE]

63: l'Allemand D, Schmidt S, Rousson V, Brabant G, Gasser T, Gruters A. Related Articles: Associations between body mass, leptin, IGF-I and circulating adrenal androgens in children with obesity and premature adrenarche.
Eur J Endocrinol. 2002 Apr;146(4):537-43.
PMID: 11916623 [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.

2001

61: Musebeck J, Mohnike K, Beye P, Tonnies H, Neitzel H, Schnabel D, Gruters A, Wieacker PF, Stumm M. Related Articles: Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
Eur J Pediatr. 2001 Sep;160(9):561-5.
PMID: 11585080 [PubMed - in process]

60: Biebermann H, Schoneberg T, Hess C, Germak J, Gudermann T, Gruters A. Related Articles: The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism.
J Clin Endocrinol Metab. 2001 Sep;86(9):4429-33.
PMID: 11549687 [PubMed - indexed for MEDLINE]

59 : Schutten M, van Baalen CA, Guillon C, Huisman RC, Boers PH, Sintnicolaas K, Gruters RA, Osterhaus AD. Related Articles: Macrophage tropism of human immunodeficiency virus type 1 facilitates in vivo escape from cytotoxic T-lymphocyte pressure.
J Virol. 2001 Mar;75(6):2706-9.
PMID: 11222694 [PubMed - indexed for MEDLINE]

58 : Gruters 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]

57: Kohler B, Schumacher V, l'Allemand D, Royer-Pokora B, Gruters A. Related Articles: Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy.
J Pediatr. 2001 Mar;138(3):421-4.
PMID: 11241055 [PubMed - indexed for MEDLINE]

56: Stichel H, l'Allemand D, Gruters A. Related Articles: Thyroid function and obesity in children and adolescents.
jid0366126. 2000;54(1):14-9.
PMID: 11182630 [PubMed - indexed for MEDLINE]

paper aus dem vorigen Jahrhundert

134:	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.
	Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. Hum Mol Genet. 2008 Jul 15;17(14):2150-9.

133:	Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Lèger A, Goudie D, Polak M, Grüters A, Visser TJ.
	Mutations in the iodotyrosine deiodinase gene and hypothyroidism. N Engl J Med. 2008 Apr 24;358(17):1811-8.

132:	Grüters A, Krude H.
	Update on the management of congenital hypothyroidism. Horm Res. 2007;68 Suppl 5:107-11. Epub 2007 Dec 10.

131:	Schmutzler C, Gotthardt I, Hofmann PJ, Radovic B, Kovacs G, Stemmler L, Nobis I, Bacinski A, Mentrup B, Ambrugger P, Grüters A, Malendowicz LK, Christoffel J, Jarry H, Seidlovà-Wuttke D, Wuttke W, Köhrle J.
	Free in PMC Endocrine disruptors and the thyroid gland--a combined in vitro and in vivo analysis of potential new biomarkers. Environ Health Perspect. 2007 Dec;115 Suppl 1:77-83.

130:	Wiegand S, Richardt A, Remer T, Wudy SA, Tomlinson JW, Hughes B, Gruters A, Stewart PM, Strasburger CJ, Quinkler M.
	Reduced 11{beta}-hydroxysteroid dehydrogenase type 1 activity in obese boys. Eur J Endocrinol. 2007 Sep;157(3):319-324.

129:	Kohler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schroder V, Biebermann H, Schnabel D, Gruters A, Achermann JC.
	Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat. 2007 Aug 10; [Epub ahead of print]

128:	Kohler B, Delezoide AL, Boizet-Bonhoure B, McPhaul MJ, Sultan C, Lumbroso S.
	Coexpression of Wilms' tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1. J Mol Endocrinol. 2007 May;38(5):547-54.

127:	Gruters A.
	Thyroid hormone transporter defects. Endocr Dev. 2007;10:118-26.

126:	Staubert C, Tarnow P, Brumm H, Pitra C, Gudermann T, Gruters A, Schoneberg T, Biebermann H, Rompler H.
	Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor. Endocrinology. 2007 Jul 12[Epub]

125:	Schmutzler C, Bacinski A, Gotthardt I, Huhne K, Ambrugger P, Klammer H, Schlecht C, Hoang-Vu C, Gruters A, Wuttke W, Jarry H, Kohrle J.
	The ultraviolet filter benzophenone 2 interferes with the thyroid hormone axis in rats and is a potent in vitro inhibitor of human recombinant thyroid peroxidase. Endocrinology. 2007 Jun;148(6):2835-44.

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.
	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

121:	Jansen J, Friesema EC, Kester MH, Milici C, Reeser M, Gruters A, Barrett TG, Mancilla EE, Svensson J, Wemeau JL, da Silva Canalli MH, Lundgren J, McEntagart ME, Hopper N, Arts WF, Visser TJ.
	Functional analysis of MCT8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. J Clin Endocrinol Metab. 2007 Mar 13;

120:	Wiefel A, Titze K, Kuntze L, Winter M, Seither C, Witte B, Lenz K, Gruters A, Lehmkuhl U.
	Diagnostic classification of mental disorders in infants and toddlers age 0 to 5 Prax Kinderpsychol Kinderpsychiatr. 2007;56(1):59-81.

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.

118:	Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Gruters A, Lenzner S, Jensen LR, Ruschendorf F, Kuss AW, Ropers HH.
	Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet. 2006 Nov 21; [Epub ahead of print]

117:	Alt B, Elsalini OA, Schrumpf P, Haufs N, Lawson ND, Schwabe GC, Mundlos S, Gruters A, Krude H, Rohr KB.
	Arteries define the position of the thyroid gland during its developmental relocalisation. Development. 2006 Oct;133(19):3797-804.

116:	Bechtold S, Dirlenbach I, Raile K, Noelle V, Bonfig W, Schwarz HP.
	Early Manifestation of Type 1 Diabetes in Children Is a Risk Factor for Changed Bone Geometry: Data Using Peripheral Quantitative Computed Tomography. Pediatrics. 2006 Aug 14; [Epub ahead of print]

115:	Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile K, Hennies HC, Horn D.
	Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet. 2006 May;43(5):e22.

114:	Raile K, Klammt J, Garten A, Laue S, Bluher M, Kralisch S, Kloting N, Kiess W.
	Glucose regulates expression of the nerve growth factor (NGF) receptors TrkA and p75NTR in rat islets and INS-1E beta-cells. Regul Pept. 2006 Jul 15;135(1-2):30-8. Epub 2006 Apr 27.

113:	Raile K, Klammt J, Schneider A, Keller A, Laue S, Smith R, Pfaffle R, Kratzsch J, Keller E, Kiess W.
	Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R. J Clin Endocrinol Metab. 2006 Jun;91(6):2264-71. Epub 2006 Mar 28.

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.

110:	Ciana G, Trappan A, Bembi B, Benettoni A, Maso G, Zennaro F, Ruf N, Schnabel D, Rutsch F.
	Generalized arterial calcification of infancy: two siblings with prolonged survival. Eur J Pediatr. 2006 Apr;165(4):258-263.

109:	Eiholzer U, l'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Gruters A, Simoni M.
	Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart- Willi syndrome. J Clin Endocrinol Metab. 2006 Mar;91(3):892-8.

108:	Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM.
	Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3. Am J Hum Genet. 2006 Feb;78(2):193-201.

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.

106:	Kiess W, Kratzsch J, Keller E, Schneider A, Raile K, Klammt J, Seidel B, Garten A, Schmidt H, Pfaffle R.
	Clinical examples of disturbed IGF signaling: intrauterine and postnatal growth retardation due to mutations of the insulin-like growth factor I receptor (IGF-IR) gene. Rev Endocr Metab Disord. 2005 Aug;6(3):183-7.

105:	Raile K, Stobbe H, Trobs RB, Kiess W, Pfaffle R.
	A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome. Eur J Endocrinol. 2005 Sep;153(3):353-8.