Epidemiology and initial management of ambiguous genitalia at birth in Germany U Thyen, K Lanz, PM Holterhus, O Hiort Hormone research in paediatrics 66 (4), 195-203, 2006 | 304 | 2006 |
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement G Mantovani, M Bastepe, D Monk, L De Sanctis, S Thiele, A Usardi, ... Nature Reviews Endocrinology 14 (8), 476-500, 2018 | 277 | 2018 |
Phenotypic classification of male pseudohermaphroditism due to steroid 5α‐reductase 2 deficiency GHG Sinnecker, O Hiort, L Dibbelt, N Albers, HG Dörr, H Hauß, U Heinrich, ... American journal of medical genetics 63 (1), 223-230, 1996 | 238 | 1996 |
Significance of mutations in the androgen receptor gene in males with idiopathic infertility O Hiort, PM Holterhus, T Horter, W Schulze, B Kremke, M Bals-Pratsch, ... The Journal of Clinical Endocrinology & Metabolism 85 (8), 2810-2815, 2000 | 208 | 2000 |
A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in … AE Kulle, FG Riepe, D Melchior, O Hiort, PM Holterhus The Journal of Clinical Endocrinology & Metabolism 95 (5), 2399-2409, 2010 | 192 | 2010 |
Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study B Köhler, E Kleinemeier, A Lux, O Hiort, A Grüters, U Thyen, ... The Journal of Clinical Endocrinology & Metabolism 97 (2), 577-588, 2012 | 183 | 2012 |
Management of disorders of sex development O Hiort, W Birnbaum, L Marshall, L Wünsch, R Werner, T Schröder, ... Nature Reviews Endocrinology 10 (9), 520-529, 2014 | 176 | 2014 |
Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy GP De Nanclares, E Fernández-Rebollo, I Santin, B García-Cuartero, ... The Journal of Clinical Endocrinology & Metabolism 92 (6), 2370-2373, 2007 | 168 | 2007 |
Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas EK Kunz, X Matias‐Guiu, O Hiort, G Christiansen, A Colomer, J Roth, ... Cancer 76 (3), 479-489, 1995 | 167 | 1995 |
Basal inhibin B and the testosterone response to human chorionic gonadotropin correlate in prepubertal boys K Kubini, M Zachmann, N Albers, O Hiort, M Bettendorf, J Wölfle, ... The Journal of Clinical Endocrinology & Metabolism 85 (1), 134-138, 2000 | 151 | 2000 |
Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene GHG Sinnecker, O Hiort, EM Nitsche, PM Holterhus, K Kruse, GCIS Group European journal of pediatrics 156, 7-14, 1996 | 150 | 1996 |
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 … L Audi, SF Ahmed, N Krone, M Cools, K McElreavey, PM Holterhus, ... European Journal of Endocrinology 179 (4), R197-R206, 2018 | 146 | 2018 |
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network S Thiele, G Mantovani, A Barlier, V Boldrin, P Bordogna, L De Sanctis, ... European Journal of Endocrinology 175 (6), P1-P17, 2016 | 145 | 2016 |
Deletion and point mutations of PTHLH cause brachydactyly type E E Klopocki, BP Hennig, K Dathe, R Koll, T de Ravel, E Baten, E Blom, ... The American Journal of Human Genetics 86 (3), 434-439, 2010 | 144 | 2010 |
The molecular basis of male sexual differentiation O Hiort, PM Holterhus European journal of endocrinology 142 (2), 101-110, 2000 | 140 | 2000 |
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males … B Köhler, L Lin, I Mazen, C Cetindag, H Biebermann, I Akkurt, R Rossi, ... European Journal of Endocrinology 161 (2), 237-242, 2009 | 137 | 2009 |
Changes over time in sex assignment for disorders of sex development Z Kolesinska, SF Ahmed, M Niedziela, J Bryce, M Molinska-Glura, ... Pediatrics 134 (3), e710-e715, 2014 | 134 | 2014 |
Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure O Hiort, PM Holterhus, R Werner, C Marschke, U Hoppe, CJ Partsch, ... The Journal of Clinical Endocrinology & Metabolism 90 (1), 538-541, 2005 | 134 | 2005 |
Gender role behavior in children with XY karyotype and disorders of sex development M Jürgensen, O Hiort, PM Holterhus, U Thyen Hormones and behavior 51 (3), 443-453, 2007 | 131 | 2007 |
The clinical and molecular spectrum of androgen insensitivity syndromes O Hiort, GHG Sinnecker, PM Holterhus, EM Nitsche, K Kruse American journal of medical genetics 63 (1), 218-222, 1996 | 131 | 1996 |