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Jan Idkowiak
Jan Idkowiak
MD PhD
E-mail confirmado em bham.ac.uk
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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
2822015
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, 2011
1482011
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
1102012
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
822012
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
682012
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
672015
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 (12), 591-605, 2004
632004
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
482011
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
442016
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
432019
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
432018
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
412013
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
402015
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, 2013
342013
Polarity in the rabbit embryo
J Idkowiak, G Weisheit, C Viebahn
Seminars in cell & developmental biology 15 (5), 607-617, 2004
332004
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
282016
Monogenic disorders of adrenal steroidogenesis
ES Baranowski, W Arlt, J Idkowiak
Hormone Research in Paediatrics 89 (5), 292-310, 2018
272018
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
262018
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
222010
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
202019
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