Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study
Arlt, Wiebke, Walker, Elizabeth A, Draper, Nicole, Ivison, Hannah E, Ride, Jon P, Hammer, Fabian, Chalder, Susan M, Borucka-Mankiewicz, Maria, Hauffa, Berthold P, Malunowicz, Ewa M, Stewart, Paul M, Shackleton, Cedric HL
Published in The Lancet (British edition) (26.06.2004)
Published in The Lancet (British edition) (26.06.2004)
Get full text
Journal Article
The Diagnosis of Congenital Adrenal Hyperplasia in the Newborn by Gas Chromatography/Mass Spectrometry Analysis of Random Urine Specimens
Caulfield, Michael P, Lynn, Thomas, Gottschalk, Michael E, Jones, Kenneth L, Taylor, Norman F, Malunowicz, Ewa M, Shackleton, Cedric H. L, Reitz, Richard E, Fisher, Delbert A
Published in The journal of clinical endocrinology and metabolism (01.08.2002)
Published in The journal of clinical endocrinology and metabolism (01.08.2002)
Get full text
Journal Article
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis
Shackleton, Cedric, Marcos, Josep, Malunowicz, Ewa M., Szarras-Czapnik, Maria, Jira, Petr, Taylor, Norman F., Murphy, Nuala, Crushell, Ellen, Gottschalk, Michael, Hauffa, Berthold, Cragun, Deborah L., Hopkin, Robert J., Adachi, Masanori, Arlt, Wiebke
Published in American journal of medical genetics. Part A (30.07.2004)
Published in American journal of medical genetics. Part A (30.07.2004)
Get full text
Journal Article
Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene
Nguyen, Huy-Hoang, Eiden-Plach, Antje, Hannemann, Frank, Malunowicz, Ewa M., Hartmann, Michaela F., Wudy, Stefan A., Bernhardt, Rita
Published in The Journal of steroid biochemistry and molecular biology (01.01.2016)
Published in The Journal of steroid biochemistry and molecular biology (01.01.2016)
Get full text
Journal Article
Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M, Collins, Felicity, Kerstens, Michiel N, Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehul, Silink, Martin, Shackleton, Cedric H. L, Maiter, Dominique, Krone, Nils, Arlt, Wiebke
Published in The journal of clinical endocrinology and metabolism (01.03.2011)
Published in The journal of clinical endocrinology and metabolism (01.03.2011)
Get full text
Journal Article
Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
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
Published in The journal of clinical endocrinology and metabolism (01.10.2008)
Published in The journal of clinical endocrinology and metabolism (01.10.2008)
Get full text
Journal Article
Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche
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
Published in The journal of clinical endocrinology and metabolism (01.07.2010)
Published in The journal of clinical endocrinology and metabolism (01.07.2010)
Get full text
Journal Article
Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses
Nguyen, Huy-Hoang, Hannemann, Frank, Hartmann, Michaela F., Malunowicz, Ewa M., Wudy, Stefan A., Bernhardt, Rita
Published in Molecular genetics and metabolism (01.08.2010)
Published in Molecular genetics and metabolism (01.08.2010)
Get full text
Journal Article
Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M, Collins, Felicity, Kerstens, Michiel N, Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehul, Silink, Martin, Shackleton, Cedric H. L, Maiter, Dominique, Krone, Nils, Arlt, Wiebke
Published in Endocrine reviews (01.02.2011)
Published in Endocrine reviews (01.02.2011)
Get full text
Journal Article
Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M, Collins, Felicity, Kerstens, Michiel N, Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehul, Silink, Martin, Shackleton, Cedric H. L, Maiter, Dominique, Krone, Nils, Arlt, Wiebke
Published in Endocrinology (Philadelphia) (01.02.2011)
Published in Endocrinology (Philadelphia) (01.02.2011)
Get full text
Journal Article
Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
Idkowiak, Jan, OʼRiordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M, Collins, Felicity, Kerstens, Michiel N, Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehul, Silink, Martin, Shackleton, Cedric H L, Maiter, Dominique, Krone, Nils, Arlt, Wiebke
Published in The journal of clinical endocrinology and metabolism (01.03.2011)
Get full text
Published in The journal of clinical endocrinology and metabolism (01.03.2011)
Journal Article
Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche
Idkowiak, Jan, Malunowicz, Ewa M, Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M, Shackleton, Cedric H. L, Davies, John D, Hughes, leuan A, Krone, Nils, Arlt, Wiebke
Published in The journal of clinical endocrinology and metabolism (01.07.2010)
Published in The journal of clinical endocrinology and metabolism (01.07.2010)
Get full text
Journal Article
The Smith-Lemli-Opitz syndrome--case report, early diagnosis
Walencka, Zofia, Baumert, Małgorzata, Paprotny, Magdalena, Jezela-Stanek, Aleksandra, Małunowicz, Ewa M, Sikora, Jerzy
Published in Ginekologia polska (01.03.2007)
Get full text
Published in Ginekologia polska (01.03.2007)
Journal Article