עקוב אחר
Jan Idkowiak
Jan Idkowiak
MD PhD
כתובת אימייל מאומתת בדומיין bham.ac.uk
כותרת
צוטט על ידי
צוטט על ידי
שנה
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
3752015
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
1662011
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
1372012
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
1082019
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
972012
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
802012
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
782015
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
692018
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
682004
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
652011
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
542015
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
532016
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
492013
Monogenic disorders of adrenal steroidogenesis
ES Baranowski, W Arlt, J Idkowiak
Hormone research in paediatrics 89 (5), 292-310, 2018
482018
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
392013
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
352016
Polarity in the rabbit embryo
J Idkowiak, G Weisheit, C Viebahn
Seminars in cell & developmental biology 15 (5), 607-617, 2004
352004
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
332018
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
302010
Causes, patterns and severity of androgen excess in 487 consecutively recruited pre-and post-pubertal children
J Idkowiak, YS Elhassan, P Mannion, K Smith, R Webster, V Saraff, ...
European journal of endocrinology 180 (3), 213-221, 2019
232019
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מאמרים 1–20