نتائج البحث - Shackleton, Cedric H. L.

Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis حسب Shackleton, Cedric H. L.

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Points: Recognising placental steroid sulphatase deficiency حسب Epstein, Ervin H, Krauss, Ronald M, Shackleton, Cedric H L

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Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency حسب Neres, Marcos S., Auchus, Richard J., Shackleton, Cedric H. L., Kater, Claudio E.

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Analysis by liquid chromatography–mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: A model of Smith–Lemli–Opitz syndrome حسب Meljon, Anna, Watson, Gordon L., Wang, Yuqin, Shackleton, Cedric H.L., Griffiths, William J.

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Reply to Flück et al.: Alternative androgen pathway biosynthesis drives fetal female virilization in P450 oxidoreductase deficiency حسب Reisch, Nicole, Auchus, Richard J., Shackleton, Cedric H. L., Hanley, Neil A., Arlt, Wiebke

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Cholesterol Biosynthesis from Birth to Adulthood in a Mouse Model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz Syndrome) حسب Marcos, Josep, Shackleton, Cedric H.L., Buddhikot, Madhavee M., Porter, Forbes D., Watson, Gordon L.

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Prostate formation in a marsupial is mediated by the testicular androgen 5α-androstane-3α,17β-diol حسب Shaw, Geoffrey, Renfree, Marilyn B., Leihy, Michael W., Shackleton, Cedric H. L., Roitman, Esther, Wilson, Jean D.

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Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spect... حسب Krone, Nils, Hughes, Beverly A., Lavery, Gareth G., Stewart, Paul M., Arlt, Wiebke, Shackleton, Cedric H.L.

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A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency حسب Idkowiak, Jan, Randell, Tabitha, Dhir, Vivek, Patel, Pushpa, Shackleton, Cedric H. L., Taylor, Norman F., Krone, Nils, Arlt, Wiebke

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Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome حسب Torchen, Laura C., Idkowiak, Jan, Fogel, Naomi R., O'Neil, Donna M., Shackleton, Cedric H. L., Arlt, Wiebke, Dunaif, Andrea

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Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive review حسب Schiffer, Lina, Barnard, Lise, Baranowski, Elizabeth S., Gilligan, Lorna C., Taylor, Angela E., Arlt, Wiebke, Shackleton, Cedric H.L., Storbeck, Karl-Heinz

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A SULT2A1 genetic variant identified by GWAS as associated with low serum DHEAS does not impact on the actual DHEA/DHEAS ratio حسب Haring, Robin, Wallaschofski, Henri, Teumer, Alexander, Kroemer, Heyo, Taylor, Angela E, Shackleton, Cedric H L, Nauck, Matthias, Völker, Uwe, Homuth, Georg, Arlt, Wiebke

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Analysis of bioactive oxysterols in newborn mouse brain by LC/MS حسب Meljon, Anna, Theofilopoulos, Spyridon, Shackleton, Cedric H. L., Watson, Gordon L., Javitt, Norman B., Knölker, Hans-Joachim, Saini, Ratni, Arenas, Ernest, Wang, Yuqin, Griffiths, William J.

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Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism حسب Storbeck, Karl-Heinz, Schiffer, Lina, Baranowski, Elizabeth S, Chortis, Vasileios, Prete, Alessandro, Barnard, Lise, Gilligan, Lorna C, Taylor, Angela E, Idkowiak, Jan, Arlt, Wiebke, Shackleton, Cedric H L

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A genetic defect resulting in mild low-renin hypertension حسب Wilson, Robert C., Dave-Sharma, Swati, Wei, Ji-Qing, Obeyesekere, Varuni R., Li, Kevin, Ferrari, Paolo, Krozowski, Zygmunt S., Shackleton, Cedric H. L., Bradlow, Leon, Wiens, Timothy, New, Maria I.

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Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche حسب Idkowiak, Jan, Malunowicz, Ewa M., Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M., Shackleton, Cedric H. L., Davies, John D., Hughes, Ieuan A., Krone, Nils, Arlt, Wiebke

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Alternative pathway androgen biosynthesis and human fetal female virilization حسب Reisch, Nicole, Taylor, Angela E., Nogueira, Edson F., Asby, Daniel J., Dhir, Vivek, Berry, Andrew, Krone, Nils, Auchus, Richard J., Shackleton, Cedric H. L., Hanley, Neil A., Arlt, Wiebke

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Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty حسب Idkowiak, Jan, Taylor, Angela E., Subtil, Sandra, O'Neil, Donna M., Vijzelaar, Raymon, Dias, Renuka P., Amin, Rakesh, Barrett, Timothy G., Shackleton, Cedric H. L., Kirk, Jeremy M. W., Moss, Celia, Arlt, Wiebke

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Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency حسب Lavery, Gareth G., Walker, Elizabeth A., Tiganescu, Ana, Ride, Jon P., Shackleton, Cedric H. L., Tomlinson, Jeremy W., Connell, John M. C., Ray, David W., Biason-Lauber, Anna, Malunowicz, Ewa M., Arlt, Wiebke, Stewart, Paul M.

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Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency حسب Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A., Ivison, Hannah E., Abdul-Rahman, Omar A., Hendon, Laura G., Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M., Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L., Arlt, Wiebke

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