Mutation Analysis of FOXF2 in Patients with Disorders of Sex Development (DSD) in Combination with Cleft Palate

Bằng Jochumsen, U., Werner, R., Miura, N., Richter-Unruh, A., Hiort, O., Holterhus, P.M.
Được phát hành 2009

Evaluation of DSD training schools organized by cost action BM1303 “DSDnet”

Bằng Bertalan, R., Lucas-Herald, A., Kolesinska, Z., Berra, M., Cools, Martine, Balsamo, A., Hiort, O.
Xuất bản năm Orphanet J Rare Dis (2018)

Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia

Bằng Girschick, HJ, Schneider, P, Haubitz, I, Hiort, O, Collmann, H, Beer, M, Shin, YS, Seyberth, HW
Được phát hành 2006

Detection of RET proto-oncogene point mutations in paraffin-embedded pheochromocytoma specimens by nonradioactive single-strand conformation polymorphism analysis and direct sequen...

Bằng Komminoth, P., Kunz, E., Hiort, O., Schröder, S., Matias-Guiu, X., Christiansen, G., Roth, J., Heitz, P. U.
Được phát hành 1994

Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/NaPi-IIc can be Masked by Vitamin D Deficiency and can be Associated with Renal Calcifications

Bằng Kremke, B., Bergwitz, C., Ahrens, W., Schütt, S., Schumacher, M., Wagner, V., Holterhus, P.-M., Jüppner, H., Hiort, O.
Xuất bản năm Exp Clin Endocrinol Diabetes (2008)

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘...

Bằng Audí, L, Ahmed, S F, Krone, N, Cools, M, McElreavey, K, Holterhus, P M, Greenfield, A, Bashamboo, A, Hiort, O, Wudy, S A, McGowan, R
Xuất bản năm Eur J Endocrinol (2018)

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 ‘DSDnet’

Bằng Kulle, A, Krone, N, Holterhus, P M, Schuler, G, Greaves, R F, Juul, A, de Rijke, Y B, Hartmann, M F, Saba, A, Hiort, O, Wudy, S A
Xuất bản năm Eur J Endocrinol (2017)

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

Bằng Lecumberri, B, Fernández-Rebollo, E, Sentchordi, L, Saavedra, P, Bernal-Chico, A, Pallardo, L F, Jiménez Bustos, J M, Castaño, L, de Santiago, M, Hiort, O, Pérez de Nanclares, G, Bastepe, M
Được phát hành 2009

The current landscape of European registries for rare endocrine conditions

Bằng Ali, S R, Bryce, J, Cools, M, Korbonits, M, Beun, J G, Taruscio, D, Danne, T, Dattani, M, Dekkers, O M, Linglart, A, Netchine, I, Nordenstrom, A, Patocs, A, Persani, L, Reisch, N, Smyth, A, Sumnik, Z, Visser, W E, Hiort, O, Pereira, A M, Ahmed, S F
Xuất bản năm Eur J Endocrinol (2018)

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene

Bằng Lucas-Herald, A., Bertelloni, S., Juul, A., Bryce, J., Jiang, J., Rodie, M., Sinnott, R., Boroujerdi, M., Lindhardt Johansen, M., Hiort, O., Holterhus, P. M., Cools, M., Guaragna-Filho, G., Guerra-Junior, G., Weintrob, N., Hannema, S., Drop, S., Guran, T., Darendeliler, F., Nordenstrom, A., Hughes, I. A., Acerini, C., Tadokoro-Cuccaro, R., Ahmed, S. F.
Xuất bản năm J Clin Endocrinol Metab (2016)

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

Bằng Hornig, N. C., Ukat, M., Schweikert, H. U., Hiort, O., Werner, R., Drop, S. L. S., Cools, M., Hughes, I. A., Audi, L., Ahmed, S. F., Demiri, J., Rodens, P., Worch, L., Wehner, G., Kulle, A. E., Dunstheimer, D., Müller-Roßberg, E., Reinehr, T., Hadidi, A. T., Eckstein, A. K., van der Horst, C., Seif, C., Siebert, R., Ammerpohl, O., Holterhus, P.-M.
Xuất bản năm J Clin Endocrinol Metab (2016)