Research output per year
Research output per year
- 11 results
Search results
-
2021
The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series
Sun, M., Mueller, J. W., Gilligan, L. C., Taylor, A. E., Shaheen, F., Noczyńska, A., T'Sjoen, G., Denvir, L., Shenoy, S., Fulton, P., Cheetham, T. D., Gleeson, H., Rahman, M., Krone, N. P., Taylor, N. F., Shackleton, C. H. L., Arlt, W. & Idkowiak, J., 11 Oct 2021, In: European Journal of Endocrinology . 185, 5, p. 729-741 13 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile82 Downloads (Pure) -
2019
Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism
Storbeck, K-H., Schiffer, L., Baranowski, E., Chortis, V., Prete, A., Barnard, L., Gilligan, L., Taylor, A., Idkowiak, J., Arlt, W. & Shackleton, C., Dec 2019, In: Endocrine Reviews. 40, 6, p. 1605-1625 21 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile15 Citations (Scopus)181 Downloads (Pure) -
2016
Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women with Polycystic Ovary Syndrome
Arlt, W., Torchen, L., Idkowiak, J., Fogel, N., O'Neil, D., Shackleton, C. & Dunaif, A., May 2016, In: Journal of Clinical Endocrinology and Metabolism. 101, 5, p. 2069-2075 7 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile30 Citations (Scopus)151 Downloads (Pure) -
Steroid sulfatase sulfatase deficiency and androgen activation before and after puberty
Idkowiak, J., Taylor, A. E., Subtil, S., O'neil, D. M., Vijzelaar, R., Dias, R. P., Amin, R., Barrett, T. G., Shackleton, C. H. L., Kirk, J. M. W., Moss, C. & Arlt, W., 2 Jun 2016, In: Journal of Clinical Endocrinology and Metabolism. 101, 6, p. 2545-53 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile19 Citations (Scopus)205 Downloads (Pure) -
2015
PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation—in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations
Oostdijk, W., Idkowiak, J., Mueller, J. W., House, P. J., Taylor, A. E., O'reilly, M. W., Hughes, B. A., De Vries, M. C., Kant, S. G., Santen, G. W. E., Verkerk, A. J. M. H., Uitterlinden, A. G., Wit, J. M., Losekoot, M. & Arlt, W., 1 Apr 2015, In: Journal of Clinical Endocrinology and Metabolism. 100, 4, p. E672-E680Research output: Contribution to journal › Article › peer-review
Open AccessFile41 Citations (Scopus)149 Downloads (Pure) -
Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis
Jühlen, R., Idkowiak, J., Taylor, A. E., Kind, B., Arlt, W., Huebner, A. & Koehler, K., 13 Apr 2015, In: PLoS ONE. 10, 4, e0124582.Research output: Contribution to journal › Article › peer-review
Open Access26 Citations (Scopus) -
The Regulation of Steroid Action by Sulfation and Desulfation
Mueller, J. W., Gilligan, L. C., Idkowiak, J., Arlt, W. & Foster, P. A., Oct 2015, In: Endocrine Reviews. 36, 5, p. 526-563 38 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile185 Citations (Scopus)284 Downloads (Pure) -
2013
Novel H6PDH mutations in two girls with premature adrenarche : 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling
Lavery, G. G., Idkowiak, J., Sherlock, M., Bujalska, I., Ride, J. P., Saqib, K., Hartmann, M. F., Hughes, B., Wudy, S. A., De Schepper, J., Arlt, W., Krone, N., Shackleton, C. H., Walker, E. A. & Stewart, P. M., 1 Feb 2013, In: European Journal of Endocrinology . 168, 2, p. K19-K26Research output: Contribution to journal › Article › peer-review
Open AccessFile34 Citations (Scopus)200 Downloads (Pure) -
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency
Reisch, N., Idkowiak, J., Hughes, B. A., Ivison, H. E., Abdul-Rahman, O. A., Hendon, L. G., Olney, A. H., Nielsen, S., Harrison, R., Blair, E. M., Dhir, V., Krone, N., Shackleton, C. H. L. & Arlt, W., 1 Mar 2013, In: The Journal of clinical endocrinology and metabolism. 98, 3, p. E528-36Research output: Contribution to journal › Article › peer-review
Open AccessFile25 Citations (Scopus)514 Downloads (Pure) -
2011
A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency.
Idkowiak, J., Randell, T., Dhir, V., Patel, P., Shackleton, C., Taylor, NF., Krone, N. & Arlt, W., 1 Mar 2011, In: Journal of Clinical Endocrinology and Metabolism. 94, p. 465-475 11 p.Research output: Contribution to journal › Article › peer-review
62 Citations (Scopus) -
Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency.
Krone, N., Idkowiak, J., Dhir, V., Hughes, B., Rose, I., O'Neil, D., Smith, M., MacDonald, F., Cole, T., Gregory, J., Shackleton, C. & Arlt, W., 7 Dec 2011, In: Journal of Clinical Endocrinology and Metabolism. 97, 2, p. E257-E267 11 p.Research output: Contribution to journal › Article
81 Citations (Scopus)