Analysis of the Wilms' Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development von Köhler, B, Biebermann, H, Friedsam, V, Gellermann, J, Maier, R. F, Pohl, M, Wieacker, P, Hiort, O, Grüters, A, Krude, H

Volltext

Screening Chromosomal Aberrations by Array Comparative Genomic Hybridization in 80 Patients with Congenital Hypothyroidism and Thyroid Dysgenesis von Thorwarth, A., Mueller, I., Biebermann, H., Ropers, H. H., Grueters, A., Krude, H., Ullmann, R.

Volltext

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre) von Coyle, Beth, Reardon, William, Herbrick, Jo-Anne, Tsui, Lap-Chee, Gausden, Eleanor, Lee, Jeffrey, Coffey, Rebecca, Grueters, Annette, Grossman, Ashley, Phelps, Peter D., Luxon, Linda, Kendall-Taylor, Pat, Scherer, Stephen W., Trembath, Richard C.

Volltext

Two Puzzling Cases of Thyroid Dysgenesis von Kuehnen, P., Grueters, A., Krude, H.

Volltext

The management of thyrotoxicosis in a pre-pubertal child with 18p deletion syndrome von Dharmaraj, P, Grueters, A

Volltext

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation von Friesema, Edith CH, Grueters, Annette, Biebermann, Heike, Krude, Heiko, von Moers, Arpad, Reeser, Maarten, Barrett, Timothy G, Mancilla, Edna E, Svensson, Johan, Kester, Monique HA, Kuiper, George GJM, Balkassmi, Sahila, Uitterlinden, André G, Koehrle, Josef, Rodien, Patrice, Halestrap, Andrew P, Visser, Theo J

Volltext

First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature von Trimborn, M., Grueters, A., Neitzel, H., Tönnies, H.

Volltext

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans von Brabant, Georg, Grüters, Annette, Luck, Werner, Biebermann, Heike, Krude, Heiko, Horn, Rüdiger

Volltext

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8 von Biebermann, Heike, Ambrugger, Petra, Tarnow, Patrick, von Moers, Arpad, Schweizer, Ulrich, Grueters, Annette

Volltext

IMPROVE 2022 International Meeting on Pathway‐Related Obesity: Vision of Excellence von Kühnen, Peter, Argente, Jesús, Clément, Karine, Dollfus, Hélène, Dubern, Béatrice, Farooqi, Sadaf, Groot, Corjan, Grüters, Annette, Holm, Jens‐Christian, Hopkins, Mark, Kleinendorst, Lotte, Körner, Antje, Meeker, David, Rydén, Mikael, Schnurbein, Julia, Tschöp, Matthias, Yeo, Giles S. H., Zorn, Stefanie, Wabitsch, Martin

Volltext

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss von Rajab, Anna, Kelberman, Daniel, de Castro, Sandra C.P., Biebermann, Heike, Shaikh, Hala, Pearce, Kerra, Hall, Catherine M., Shaikh, Guftar, Gerrelli, Dianne, Grueters, Annette, Krude, Heiko, Dattani, Mehul T.

Volltext

Is there a further acceleration in the age at onset of menarche? A cross-sectional study in 1840 school children focusing on age and bodyweight at the onset of menarche von Bau, A M, Ernert, A, Schenk, L, Wiegand, S, Martus, P, Grüters, A, Krude, H

Volltext

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency von Krude, Heiko, Schütz, Barbara, Biebermann, Heike, von Moers, Arpad, Schnabel, Dirk, Neitzel, Heidi, Tönnies, Holger, Weise, Dagmar, Lafferty, Antony, Schwarz, Siegfried, DeFelice, Mario, von Deimling, Andreas, van Landeghem, Frank, DiLauro, Roberto, Grüters, Annette

Volltext

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency von Moers, Arpard v, Marcos, Elisabeth, Goossens, Michel, Schnabel, Dirk, Netchine, Irène, Maghnie, Mohamed, Amselem, Serge, Duriez, Bénédicte, Grüters, Annette, Sobrier, Marie-Laure, Krude, Heiko, Cacheux, Valère

Volltext

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis von Macchia, Paolo Emidio, Lapi, Paola, Krude, Heiko, Pirro, Maria Teresa, Missero, Caterina, Chiovato, Luca, Souabni, Abdallah, Baserga, Mariangiola, Tassi, Vittorio, Pinchera, Aldo, Fenzi, Gianfranco, Grüters, Annette, Busslinger, Meinrad, Lauro, Roberto Di

Volltext

Mutationally Induced Disulfide Bond Formation within the Third Extracellular Loop Causes Melanocortin 4 Receptor Inactivation in Patients with Obesity von Tarnow, Patrick, Schöneberg, Torsten, Krude, Heiko, Grüters, Annette, Biebermann, Heike

Volltext

Procedure for Neonatal Screening for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency von Honour, JW, Torresani, T, Toublanc, JE, Larsson, A, Grueters-Kieslich, A, Giovanelli, G, Donaldson, M, Ferrandez-Longas, A, Klett, M, Hnikova, O, Schrama, SMPFDK

Volltext

Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-up Study 2001 von Doerr, Helmuth G., Bettendorf, Markus, Hauffa, Berthold P., Mehls, Otto, Partsch, Carl-Joachim, Said, Elfriede, Sander, Sabine, Schwarz, Hans-Peter, Stahnke, Nikolaus, Steinkamp, Heiner, Ranke, Michael B.

Volltext

Gender identity disorders in childhood and adolescence: currently debated concepts and treatment strategies von Korte, Alexander, Lehmkuhl, Ulrike, Goecker, David, Beier, Klaus Michael, Krude, Heiko, Grüters-Kieslich, Annette

Volltext

Food Abundance Is the Main Determinant of High-Altitude Range Use in Snub-Nosed Monkeys von Grueter, Cyril C., Li, Dayong, Ren, Baoping, Xiang, Zuofu, Li, Ming

Volltext