The regulation of steroid action by sulfation and desulfation JW Mueller, LC Gilligan, J Idkowiak, W Arlt, PA Foster Endocrine reviews 36 (5), 526-563, 2015 | 432 | 2015 |
Premature adrenarche: novel lessons from early onset androgen excess J Idkowiak, GG Lavery, V Dhir, TG Barrett, PM Stewart, N Krone, W Arlt European Journal of Endocrinology 165 (2), 189-207, 2011 | 168 | 2011 |
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency N Krone, N Reisch, J Idkowiak, V Dhir, HE Ivison, BA Hughes, IT Rose, ... The Journal of Clinical Endocrinology & Metabolism 97 (2), E257-E267, 2012 | 141 | 2012 |
Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism KH Storbeck, L Schiffer, ES Baranowski, V Chortis, A Prete, L Barnard, ... Endocrine reviews 40 (6), 1605-1625, 2019 | 129 | 2019 |
A missense mutation in the human cytochrome b5 gene causes 46, XY disorder of sex development due to true isolated 17, 20 lyase deficiency J Idkowiak, T Randell, V Dhir, P Patel, CHL Shackleton, NF Taylor, ... The Journal of Clinical Endocrinology & Metabolism 97 (3), E465-E475, 2012 | 101 | 2012 |
The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) M Eckart, UP Guenther, J Idkowiak, R Varon, B Grolle, P Boffi, ... Pediatrics 129 (1), e148-e156, 2012 | 87 | 2012 |
Causes, patterns, and severity of androgen excess in 1205 consecutively recruited women YS Elhassan, J Idkowiak, K Smith, M Asia, H Gleeson, R Webster, W Arlt, ... The Journal of Clinical Endocrinology & Metabolism 103 (3), 1214-1223, 2018 | 85 | 2018 |
PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation—in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations W Oostdijk, J Idkowiak, JW Mueller, PJ House, AE Taylor, MW O'reilly, ... The Journal of Clinical Endocrinology & Metabolism 100 (4), E672-E680, 2015 | 83 | 2015 |
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency J Idkowiak, S O'Riordan, N Reisch, EM Malunowicz, F Collins, ... The Journal of Clinical Endocrinology & Metabolism 96 (3), E453-E462, 2011 | 69 | 2011 |
Hypoblast controls mesoderm generation and axial patterning in the gastrulating rabbit embryo J Idkowiak, G Weisheit, J Plitzner, C Viebahn Development genes and evolution 214, 591-605, 2004 | 68 | 2004 |
Evidence for increased 5α-reductase activity during early childhood in daughters of women with polycystic ovary syndrome LC Torchen, J Idkowiak, NR Fogel, DM O'Neil, CHL Shackleton, W Arlt, ... The Journal of Clinical Endocrinology & Metabolism 101 (5), 2069-2075, 2016 | 59 | 2016 |
Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis R Jühlen, J Idkowiak, AE Taylor, B Kind, W Arlt, A Huebner, K Koehler PLoS One 10 (4), e0124582, 2015 | 59 | 2015 |
Monogenic disorders of adrenal steroidogenesis ES Baranowski, W Arlt, J Idkowiak Hormone research in paediatrics 89 (5), 292-310, 2018 | 53 | 2018 |
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency N Reisch, J Idkowiak, BA Hughes, HE Ivison, OA Abdul-Rahman, ... The Journal of Clinical Endocrinology & Metabolism 98 (3), E528-E536, 2013 | 51 | 2013 |
Novel H6PDH mutations in two girls with premature adrenarche:‘apparent’and ‘true’CRD can be differentiated by urinary steroid profiling GG Lavery, J Idkowiak, M Sherlock, I Bujalska, JP Ride, K Saqib, ... European journal of endocrinology 168 (2), K19-K26, 2013 | 42 | 2013 |
Steroid sulfatase deficiency and androgen activation before and after puberty J Idkowiak, AE Taylor, S Subtil, DM O'neil, R Vijzelaar, RP Dias, R Amin, ... The Journal of Clinical Endocrinology & Metabolism 101 (6), 2545-2553, 2016 | 39 | 2016 |
Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA sulfotransferase SULT2A1 JW Mueller, J Idkowiak, TF Gesteira, C Vallet, R Hardman, ... Journal of Biological Chemistry 293 (25), 9724-9735, 2018 | 35 | 2018 |
Polarity in the rabbit embryo J Idkowiak, G Weisheit, C Viebahn Seminars in cell & developmental biology 15 (5), 607-617, 2004 | 34 | 2004 |
Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46, XY disordered sex development and androgenization at adrenarche J Idkowiak, EM Malunowicz, V Dhir, N Reisch, M Szarras-Czapnik, ... The Journal of Clinical Endocrinology & Metabolism 95 (7), 3418-3427, 2010 | 31 | 2010 |
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies APM Canton, ACV Krepischi, LR Montenegro, S Costa, C Rosenberg, ... Human Reproduction 36 (2), 506-518, 2021 | 26 | 2021 |