MON-175 Structural Instability as an Underlying Pathomechanism in Congenital Adrenal Hyperplasia

nork Meese, Nicolas, Paul, Pallabi Sil, Haslbeck, Martin, Huebner, Angela, Reisch, Nicole
Argitaratua izan da J Endocr Soc (2020)

MON-177 CAH-X Syndrome in a German Cohort of Patients with Congenital Adrenal Hyperplasia

nork Sappl, Andrea, Lottspeich, Christian, Vill, Katharina, Morak, Monika, Bidlingmaier, Martin, Reisch, Nicole
Argitaratua izan da J Endocr Soc (2020)

MON-185 ACTH-Derived Peptide Antagonists as an Alternative Treatment Strategy for Congenital Adrenal Hyperplasia

nork Schubert, Tina, Nicke, Lennart, Schanze, André, Reisch, Nicole, Geyer, Armin, Koehler, Katrin, Huebner, Angela
Argitaratua izan da J Endocr Soc (2020)

Reply to Flück et al.: Alternative androgen pathway biosynthesis drives fetal female virilization in P450 oxidoreductase deficiency

nork Reisch, Nicole, Auchus, Richard J., Shackleton, Cedric H. L., Hanley, Neil A., Arlt, Wiebke
Argitaratua izan da Proc Natl Acad Sci U S A (2020)

Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II

nork Ramos-Lopez, Elizabeth, Lange, Britta, Kahles, Heinrich, Willenberg, Holger S, Meyer, Gesine, Penna-Martinez, Marissa, Reisch, Nicole, Hahner, Stefanie, Seissler, Jürgen, Badenhoop, Klaus
Argitaratua 2008

The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease

nork Penna-Martinez, Marissa, Ramos-Lopez, Elizabeth, Robbers, Inka, Kahles, Heinrich, Hahner, Stefanie, Willenberg, Holger, Reisch, Nicole, Seidl, Christian, Segni, Maria, Badenhoop, Klaus
Argitaratua 2009

Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study

nork Falhammar, Henrik, Claahsen-van der Grinten, Hedi, Reisch, Nicole, Slowikowska-Hilczer, Jolanta, Nordenström, Anna, Roehle, Robert, Bouvattier, Claire, Kreukels, Baudewijntje P C, Köhler, Birgit
Argitaratua izan da Endocr Connect (2018)

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

nork 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
Argitaratua 2010

Alternative pathway androgen biosynthesis and human fetal female virilization

nork 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
Argitaratua izan da Proc Natl Acad Sci U S A (2019)

Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency

nork Gehrmann, Katharina, Engels, Manon, Bennecke, Elena, Bouvattier, Claire, Falhammar, Henrik, Kreukels, Baudewijntje P C, Nordenstrom, Anna, Reisch, Nicole, Gehrmann, Nicole, Stikkelbroeck, Nike M M L, Quinkler, Marcus, Claahsen-van der Grinten, Hedi L
Argitaratua izan da J Endocr Soc (2019)

Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis

nork Nowotny, Hanna, Ahmed, S. Faisal, Bensing, Sophie, Beun, Johan G., Brösamle, Manuela, Chifu, Irina, Claahsen van der Grinten, Hedi, Clemente, Maria, Falhammar, Henrik, Hahner, Stefanie, Husebye, Eystein, Kristensen, Jette, Loli, Paola, Lajic, Svetlana, Reisch, Nicole
Argitaratua izan da Endocrine (2021)

Modified-Release and Conventional Glucocorticoids and Diurnal Androgen Excretion in Congenital Adrenal Hyperplasia

nork Jones, Christopher M., Mallappa, Ashwini, Reisch, Nicole, Nikolaou, Nikolaos, Krone, Nils, Hughes, Beverly A., O’Neil, Donna M., Whitaker, Martin J., Tomlinson, Jeremy W., Storbeck, Karl-Heinz, Merke, Deborah P., Ross, Richard J., Arlt, Wiebke
Argitaratua izan da J Clin Endocrinol Metab (2016)

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

nork 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
Argitaratua 2013

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

nork 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
Argitaratua 2011

Polymorphisms in MDA-5 link protein function to clearance of hepatitis C virus

nork Hoffmann, Franziska, Schmidt, Andreas, Chevillotte, Meike Dittmann, Wisskirchen, Christian, Hellmuth, Johannes C., Willms, Simone, Gilmore, Rachel H., Glas, Jürgen, Folwaczny, Matthias, Müller, Tobias, Berg, Thomas, Spengler, Ulrich, Fitzmaurice, Karen, Kelleher, Dermot, Reisch, Nicole, Rice, Charles M., Endres, Stefan, Rothenfusser, Simon
Argitaratua izan da Hepatology (2015)

Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency

nork Parajes, Silvia, Loidi, Lourdes, Reisch, Nicole, Dhir, Vivek, Rose, Ian T., Hampel, Rainer, Quinkler, Marcus, Conway, Gerard S., Castro-Feijóo, Lidia, Araujo-Vilar, David, Pombo, Manuel, Dominguez, Fernando, Williams, Emma L., Cole, Trevor R., Kirk, Jeremy M., Kaminsky, Elke, Rumsby, Gill, Arlt, Wiebke, Krone, Nils
Argitaratua 2010

SUN-070 European Registries for Rare Endocrine Conditions (EuRRECa): Results from the Platform for E-reporting of Rare Endocrine Conditions (e-REC)

nork Ali, Salma R, Bryce, Jillian, Cools, Martine, Danne, Thomas, Dattani, Mehul T, Dekkers, Olaf M, Hiort, Olaf, Linglart, Agnes, Netchine, Irene, Nordenstrom, Anna, Patocs, Attila, Pereira, Alberto M, Persani, Luca, Reisch, Nicole, Smyth, Arlene, Sumnik, Zdenek, Taruscio, Domenica, Visser, W Edward, Ahmed, S Faisal
Argitaratua izan da J Endocr Soc (2020)

Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia

nork Merke, Deborah P, Mallappa, Ashwini, Arlt, Wiebke, Brac de la Perriere, Aude, Lindén Hirschberg, Angelica, Juul, Anders, Newell-Price, John, Perry, Colin G, Prete, Alessandro, Rees, D Aled, Reisch, Nicole, Stikkelbroeck, Nike, Touraine, Philippe, Maltby, Kerry, Treasure, F Peter, Porter, John, Ross, Richard J
Argitaratua izan da J Clin Endocrinol Metab (2021)

OR25-02 A Phase 3 Study of a Modified-Release Hydrocortisone in the Treatment of Congenital Adrenal Hyperplasia

nork Merke, Deborah P, Mallappa, Ashwini, Arlt, Wiebke, de la Perriere, Aude Brac, Hirschberg, Angelica Linden, Juul, Anders, Newell-Price, John D C, Perry, Colin Graham, Prete, Alessandro, Rees, Aled, Reisch, Nicole, Stikkelbroeck, Monica, Touraine, Philippe A, Maltby, Kerry, Treasure, Peter, Porter, John, Ross, Richard John M
Argitaratua izan da J Endocr Soc (2020)

Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

nork Verhees, Myrthe J. M., Engels, Manon, Span, Paul N., Sweep, Fred C. G. J., van Herwaarden, Antonius E., Falhammar, Henrik, Nordenström, Anna, Webb, Emma A., Richter-Unruh, Annette, Bouvattier, Claire, de la Perrière, Aude Brac, Arlt, Wiebke, Reisch, Nicole, Köhler, Birgit, Rapp, Marion, Stikkelbroeck, Nike M. M. L., Roeleveld, Nel, Claahsen-van der Grinten, Hedi L.
Argitaratua izan da Front Endocrinol (Lausanne) (2021)