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Expression of two functionally different androgen receptors in a patient with androgen insensitivity.
Published in:
1999
By:
- Holterhus, P. M.;
- Sinnecker, G. H. G.;
- Wollmann, H. A.;
- Struve, D.;
- Homburg, N.;
- Kruse, K.;
- Hiort, O.;
- Sinnecker, G H
Publication type:
journal article
Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat.
Published in:
1999
By:
- Pfeiffer, R. A.;
- Rauch, A.;
- Trautmann, U.;
- Dörr, H. G.;
- Hiort, O.;
- Scherer, G.;
- Rösch, G.;
- Papadopoulos, T.;
- v. d. Hardt, K.;
- Lachmann, E.;
- Dörr, H G;
- Rösch, G
Publication type:
journal article
Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study Group.
Published in:
1997
By:
- Sinnecker, G H;
- Hiort, O;
- Nitsche, E M;
- Holterhus, P M;
- Kruse, K
Publication type:
journal article
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia.
Published in:
Orphanet Journal of Rare Diseases, 2006, v. 1, p. 24, doi. 10.1186/1750-1172-1-24
By:
- Girschick, H. J.;
- Schneider, P.;
- Haubitz, I.;
- Hiort, O.;
- Collmann, H.;
- Beer, M.;
- Shin, Y. S.;
- Seyberth, H. W.
Publication type:
Article
Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2016, p. 4468, doi. 10.1210/jc.2016-1990
By:
- 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.
Publication type:
Article
Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.
Published in:
2016
By:
- 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.
Publication type:
journal article
The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.
Published in:
2016
By:
- 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
Publication type:
journal article
PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance.
Published in:
2012
By:
- Linglart A;
- Fryssira H;
- Hiort O;
- Holterhus PM;
- Perez de Nanclares G;
- Argente J;
- Heinrichs C;
- Kuechler A;
- Mantovani G;
- Leheup B;
- Wicart P;
- Chassot V;
- Schmidt D;
- Rubio-Cabezas O;
- Richter-Unruh A;
- Berrade S;
- Pereda A;
- Boros E;
- Muñoz-Calvo MT;
- Castori M
Publication type:
Journal Article
Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study.
Published in:
2012
By:
- Köhler B;
- Kleinemeier E;
- Lux A;
- Hiort O;
- Grüters A;
- Thyen U;
- DSD Network Working Group
Publication type:
Journal Article
Three-Year Growth Hormone Treatment in Short Children with X-Linked Hypophosphatemic Rickets: Effects on Linear Growth and Body Disproportion.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 12, p. E2097, doi. 10.1210/jc.2011-0399
By:
- Živičnjak, M.;
- Schnabel, D.;
- Staude, H.;
- Even, G.;
- Marx, M.;
- Beetz, R.;
- Holder, M.;
- Billing, H.;
- Fischer, D.-C.;
- Rabl, W.;
- Schumacher, M.;
- Hiort, O.;
- Haffner, D.
Publication type:
Article
Analysis of the Wilms’ Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 7, p. E1131, doi. 10.1210/jc.2010-2804
By:
- Köhler, B.;
- Biebermann, H.;
- Friedsam, V.;
- Gellermann, J.;
- Maier, R. F.;
- Pohl, M.;
- Wieacker, P.;
- Hiort, O.;
- Grüters, A.;
- Krude, H.
Publication type:
Article
Varianten der Geschlechtsentwicklung – Aktualisierung der S2k-Leitlinie.
Published in:
Die Urologie, 2024, v. 63, n. 5, p. 448, doi. 10.1007/s00120-024-02326-2
By:
- Krege, S.;
- Eckoldt, F.;
- Richter-Unruh, A.;
- Leitliniengruppe;
- Brunner, F.;
- Heckmann, M.;
- Hildebrandt, T.;
- Hiort, O.;
- Holterhus, P.-M.;
- Janssen-Schmidchen, G.;
- Kumst, A.;
- Menzel, H.-J.;
- Neumann, U.;
- Plett, K.;
- Rall, K.;
- Reisch, N.;
- Richter-Appelt, H.;
- Roggemann, E.;
- Romer, G.;
- Rosen, U.
Publication type:
Article
Parental expectations before and after 12‐month experience with video consultations combined with regular outpatient care for children with type 1 diabetes: a qualitative study.
Published in:
Diabetic Medicine, 2021, v. 38, n. 6, p. 1, doi. 10.1111/dme.14410
By:
- von Sengbusch, S.;
- Doerdelmann, J.;
- Lemke, S.;
- Lange, K.;
- Hiort, O.;
- Katalinic, A.;
- Frielitz, F. S.
Publication type:
Article
Mobile diabetes education and care: intervention for children and young people with Type 1 diabetes in rural areas of northern Germany.
Published in:
Diabetic Medicine, 2006, v. 23, n. 2, p. 122, doi. 10.1111/j.1464-5491.2005.01754.x
By:
- von Sengbusch, S.;
- Müller-Godeffroy, E.;
- Häger, S.;
- Reintjes, R.;
- Hiort, O.;
- Wagner, V.
Publication type:
Article
Evaluation of DSD training schools organized by cost action BM1303 "DSDnet".
Published in:
2018
By:
- Bertalan, R.;
- Lucas-Herald, A.;
- Kolesinska, Z.;
- Berra, M.;
- Cools, Martine;
- Balsamo, A.;
- Hiort, O.
Publication type:
journal article
A Novel Ultrapressure Liquid Chromatography Tandem Mass Spectrometry Method for the Simultaneous Determination of Androstenedione, Testosterone, and Dihydrotestosterone in Pediatric Blood Samples: Age- and Sex-Specific Reference Data.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 5, p. 2399, doi. 10.1210/jc.2009-1670
By:
- Kulle, A. E.;
- Riepe, F. G.;
- Melchior, D.;
- Hiort, O.;
- Holterhus, P. M.
Publication type:
Article
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 10, p. 4630, doi. 10.1210/jc.86.10.4630
By:
- AHRENS, W.;
- HIORT, O.;
- STAEDT, P.;
- KIRSCHNER, T.;
- MARSCHKE, C.;
- KRUSE, K.
Publication type:
Article
Tissue-specific transcription profiles of sex steroid biosynthesis enzymes and the androgen receptor.
Published in:
Journal of Molecular Medicine, 2006, v. 84, n. 8, p. 651, doi. 10.1007/s00109-006-0049-1
By:
- Hoppe, U.;
- Holterhus, P.-M.;
- Wünsch, L.;
- Jocham, D.;
- Drechsler, T.;
- Thiele, S.;
- Marschke, C.;
- Hiort, O.
Publication type:
Article
Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.
Published in:
Journal of Molecular Medicine, 2005, v. 83, n. 12, p. 1005, doi. 10.1007/s00109-005-0704-y
By:
- Holterhus, P. M.;
- Werner, R.;
- Hoppe, U.;
- Bassler, J.;
- Korsch, E.;
- Ranke, M. B.;
- Dörr, H. G.;
- Hiort, O.
Publication type:
Article
Calcinosis cutis bei hereditärer Albright-Osteodystrophie.
Published in:
Der Hautarzt, 2006, v. 57, n. 10, p. 893, doi. 10.1007/s00105-005-1040-4
By:
- Fölster-Holst, R.;
- Riepe, F.;
- Ahrens, W.;
- Möller, M.;
- Brasch, J.;
- Partsch, C.-J.;
- Hiort, O.;
- Sippell, W.
Publication type:
Article
Testosterone Synthesis in Patients with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency.
Published in:
Sexual Development, 2012, v. 6, n. 4, p. 161, doi. 10.1159/000336605
By:
- Werner, R.;
- Kulle, A.;
- Sommerfeld, I.;
- Riepe, F.G.;
- Wudy, S.;
- Hartmann, M.F.;
- Merz, H.;
- Döhnert, U.;
- Bertelloni, S.;
- Holterhus, P.-M.;
- Hiort, O.
Publication type:
Article
Mutation Analysis of FOXF2 in Patients with Disorders of Sex Development (DSD) in Combination with Cleft Palate.
Published in:
Sexual Development, 2009, v. 2, n. 6, p. 302, doi. 10.1159/000195679
By:
- Jochumsen, U.;
- Werner, R.;
- Miura, N.;
- Richter-Unruh, A.;
- Hiort, O.;
- Holterhus, P.M.
Publication type:
Article
In-vitro Characterization of Androgen Receptor Mutations Associated with Complete Androgen Insensitivity Syndrome Reveals Distinct Functional Deficits.
Published in:
Sexual Development, 2008, v. 2, n. 2, p. 73, doi. 10.1159/000129692
By:
- Werner, R.;
- Zhan, J.;
- Gesing, J.;
- Struve, D.;
- Hiort, O.
Publication type:
Article
Altered Transcription Profiles of Key-Enzymes of Androgen Biosynthesis in Genital Skin Fibroblasts from Patients with 46,XY Disorders of Sex Development (DSD).
Published in:
Sexual Development, 2007, v. 1, n. 4, p. 230, doi. 10.1159/000104773
By:
- Hoppe, U.;
- Wünsch, L.;
- Holterhus, P.-M.;
- Jocham, D.;
- Richter-Unruh, A.;
- Hiort, O.
Publication type:
Article
Psychosexual Development in Children with Disorder of Sex Development (DSD) - Results from the German Clinical Evaluation Study.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 6, p. 565
By:
- Jürgensen, M.;
- Kleinemeier, E.;
- Lux, A.;
- Steensma, T. D.;
- Cohen-Kettenis, P. T.;
- Hiort, O.;
- Thyen, U.
Publication type:
Article
Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas.
Published in:
1995
By:
- Komminoth, P;
- Kunz, E K;
- Matias-Guiu, X;
- Hiort, O;
- Christiansen, G;
- Colomer, A;
- Roth, J;
- Heitz, P U
Publication type:
journal article
The current landscape of European registries for rare endocrine conditions.
Published in:
European Journal of Endocrinology, 2019, v. 180, n. 1, p. 89, doi. 10.1530/EJE-18-0861
By:
- 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.
Publication type:
Article
Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 'DSDnet'.
Published in:
European Journal of Endocrinology, 2018, v. 179, n. 4, p. R197, doi. 10.1530/EJE-18-0256
By:
- 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.
Publication type:
Article
Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.
Published in:
European Journal of Endocrinology, 2017, v. 176, n. 5, p. 1, doi. 10.1530/EJE-16-0953
By:
- 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.
Publication type:
Article
Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis.
Published in:
European Journal of Endocrinology, 2005, v. 152, n. 2, p. 255, doi. 10.1530/eje.1.01852
By:
- A Richter-Unruh;
- E Korsch;
- O Hiort;
- P M Holterhus;
- A P Themmen;
- S A Wudy
Publication type:
Article
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.
Published in:
Human Reproduction, 2010, v. 25, n. 10, p. 2637, doi. 10.1093/humrep/deq167
By:
- Ledig, S.;
- Hiort, O.;
- Scherer, G.;
- Hoffmann, M.;
- Wolff, G.;
- Morlot, S.;
- Kuechler, A.;
- Wieacker, P.
Publication type:
Article
Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II).
Published in:
2018
By:
- Hornig, N C;
- Rodens, P;
- Dörr, H;
- Hubner, N C;
- Kulle, A E;
- Schweikert, H U;
- Welzel, M;
- Bens, S;
- Hiort, O;
- Werner, R;
- Gonzalves, S;
- Eckstein, A K;
- Cools, M;
- Verrijn-Stuart, A;
- Stunnenberg, H G;
- Siebert, R;
- Ammerpohl, O;
- Holterhus, P-M;
- Hornig, Nadine C;
- Rodens, Pascal
Publication type:
journal article
Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism.
Published in:
Clinical & Experimental Dermatology, 2012, v. 37, n. 6, p. 646, doi. 10.1111/j.1365-2230.2011.04292.x
By:
- Lau, K.;
- Willig, R. P.;
- Hiort, O.;
- Hoeger, P. H.
Publication type:
Article
Pseudohypoparathyreoidismus und epigenetische Veränderungen des GNAS-Genlocus.
Published in:
Medizinische Genetik, 2010, v. 22, n. 4, p. 419, doi. 10.1007/s11825-010-0249-5
By:
- Thiele, S.;
- Hiort, O.
Publication type:
Article

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