Výsledky vyhledávání - Shackleton, Cedric H L
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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 Autor Meljon, Anna, Watson, Gordon L., Wang, Yuqin, Shackleton, Cedric H.L., Griffiths, William J.
Vydáno 2013Text -
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Cholesterol Biosynthesis from Birth to Adulthood in a Mouse Model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz Syndrome) Autor Marcos, Josep, Shackleton, Cedric H.L., Buddhikot, Madhavee M., Porter, Forbes D., Watson, Gordon L.
Vydáno 2007Text -
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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... Autor Krone, Nils, Hughes, Beverly A., Lavery, Gareth G., Stewart, Paul M., Arlt, Wiebke, Shackleton, Cedric H.L.
Vydáno 2010Text -
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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 Autor Idkowiak, Jan, Randell, Tabitha, Dhir, Vivek, Patel, Pushpa, Shackleton, Cedric H. L., Taylor, Norman F., Krone, Nils, Arlt, Wiebke
Vydáno 2012Text -
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Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome Autor Torchen, Laura C., Idkowiak, Jan, Fogel, Naomi R., O'Neil, Donna M., Shackleton, Cedric H. L., Arlt, Wiebke, Dunaif, Andrea
Vydáno 2016Text -
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Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive review Autor Schiffer, Lina, Barnard, Lise, Baranowski, Elizabeth S., Gilligan, Lorna C., Taylor, Angela E., Arlt, Wiebke, Shackleton, Cedric H.L., Storbeck, Karl-Heinz
Vydáno 2019Text -
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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 Autor Haring, Robin, Wallaschofski, Henri, Teumer, Alexander, Kroemer, Heyo, Taylor, Angela E, Shackleton, Cedric H L, Nauck, Matthias, Völker, Uwe, Homuth, Georg, Arlt, Wiebke
Vydáno 2013Text -
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Analysis of bioactive oxysterols in newborn mouse brain by LC/MS Autor 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.
Vydáno 2012Text -
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Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism Autor 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
Vydáno 2019Text -
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A genetic defect resulting in mild low-renin hypertension Autor 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.
Vydáno 1998Text -
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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 Autor 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
Vydáno 2010Text -
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Alternative pathway androgen biosynthesis and human fetal female virilization Autor 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
Vydáno 2019Text -
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Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty Autor 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
Vydáno 2016Text -
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Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency Autor 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.
Vydáno 2008Text -
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Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency Autor 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
Vydáno 2013Text