Search Results - Huebner, Angela

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  1. 1
    Triple A syndrome: two novel mutations in the AAAS gene

    Triple A syndrome: two novel mutations in the AAAS gene by Thümmler, Susanne, Huebner, Angela, Baechler-Sadoul, Elisabeth

    Published 2009
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  2. 2
    Mutations of the AAAS gene in an Indian family with Allgrove's syndrome

    Mutations of the AAAS gene in an Indian family with Allgrove's syndrome by Mukhopadhya, Ashis, Danda, Sumita, Huebner, Angela, Chacko, Ashok

    Published 2006
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  3. 3
    Identification of a novel putative interaction partner of the nucleoporin ALADIN

    Identification of a novel putative interaction partner of the nucleoporin ALADIN by Jühlen, Ramona, Landgraf, Dana, Huebner, Angela, Koehler, Katrin

    Published 2016
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  4. 4
    Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers

    Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers by Jühlen, Ramona, Landgraf, Dana, Huebner, Angela, Koehler, Katrin

    Published 2018
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  5. 5
    SAT-254 Combination of Octreotide and Dexamphetamine to Control Weight Gain in Pediatric Patients with Hypothalamic Obesity

    SAT-254 Combination of Octreotide and Dexamphetamine to Control Weight Gain in Pediatric Patients with Hypothalamic Obesity by Reschke, Felix, Knoefler, Ralf, Smitka, Martin, Huebner, Angela

    Published 2019
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  6. 6
    Triple A (Allgrove) syndrome: an unusual association with syringomyelia

    Triple A (Allgrove) syndrome: an unusual association with syringomyelia by Bizzarri, Carla, Benevento, Danila, Terzi, Cesare, Huebner, Angela, Cappa, Marco

    Published 2013
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  7. 7
    MON-175 Structural Instability as an Underlying Pathomechanism in Congenital Adrenal Hyperplasia

    MON-175 Structural Instability as an Underlying Pathomechanism in Congenital Adrenal Hyperplasia by Meese, Nicolas, Paul, Pallabi Sil, Haslbeck, Martin, Huebner, Angela, Reisch, Nicole

    Published 2020
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  8. 8
    “Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports

    “Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports by Tibussek, Daniel, Ghosh, Sujal, Huebner, Angela, Schaper, Joerg, Mayatepek, Ertan, Koehler, Katrin

    Published 2018
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  9. 9
    Compensation for chronic oxidative stress in ALADIN null mice

    Compensation for chronic oxidative stress in ALADIN null mice by Jühlen, Ramona, Peitzsch, Mirko, Gärtner, Sebastian, Landgraf, Dana, Eisenhofer, Graeme, Huebner, Angela, Koehler, Katrin

    Published 2018
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  10. 10
    MON-185 ACTH-Derived Peptide Antagonists as an Alternative Treatment Strategy for Congenital Adrenal Hyperplasia

    MON-185 ACTH-Derived Peptide Antagonists as an Alternative Treatment Strategy for Congenital Adrenal Hyperplasia by Schubert, Tina, Nicke, Lennart, Schanze, André, Reisch, Nicole, Geyer, Armin, Koehler, Katrin, Huebner, Angela

    Published 2020
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  11. 11
    Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis

    Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis by Jühlen, Ramona, Idkowiak, Jan, Taylor, Angela E., Kind, Barbara, Arlt, Wiebke, Huebner, Angela, Koehler, Katrin

    Published 2015
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  12. 12
    ALADIN is required for the production of fertile mouse oocytes

    ALADIN is required for the production of fertile mouse oocytes by Carvalhal, Sara, Stevense, Michelle, Koehler, Katrin, Naumann, Ronald, Huebner, Angela, Jessberger, Rolf, Griffis, Eric R.

    Published 2017
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  13. 13
    SUN-222 Pre- and Post-Pubertal Reference Ranges for Oxygenated Androgens in Saliva

    SUN-222 Pre- and Post-Pubertal Reference Ranges for Oxygenated Androgens in Saliva by Adaway, Joanne, Eisenhofer, Graeme, Huebner, Angela, Krone, Nils, McTaggart, Malcolm, Peitzsch, Mirko, Keevil, Brian George

    Published 2020
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  14. 14
    The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation

    The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation by Carvalhal, Sara, Ribeiro, Susana Abreu, Arocena, Miguel, Kasciukovic, Taciana, Temme, Achim, Koehler, Katrin, Huebner, Angela, Griffis, Eric R.

    Published 2015
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  15. 15
    Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism

    Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism by Storr, Helen L., Kind, Barbara, Parfitt, David A., Chapple, J. Paul, Lorenz, M., Koehler, Katrin, Huebner, Angela, Clark, Adrian J. L.

    Published 2009
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  16. 16
    Mice Lacking the Nuclear Pore Complex Protein ALADIN Show Female Infertility but Fail To Develop a Phenotype Resembling Human Triple A Syndrome

    Mice Lacking the Nuclear Pore Complex Protein ALADIN Show Female Infertility but Fail To Develop a Phenotype Resembling Human Triple A Syndrome by Huebner, Angela, Mann, Philipp, Rohde, Elvira, Kaindl, Angela M., Witt, Martin, Verkade, Paul, Jakubiczka, Sibylle, Menschikowski, Mario, Stoltenburg-Didinger, Gisela, Koehler, Katrin

    Published 2006
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  17. 17
    Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

    Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation by Farag, Heba Gamal, Froehler, Sebastian, Oexle, Konrad, Ravindran, Ethiraj, Schindler, Detlev, Staab, Timo, Huebner, Angela, Kraemer, Nadine, Chen, Wei, Kaindl, Angela M

    Published 2013
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  18. 18
    Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

    Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK by Gallenmüller, Constanze, Müller-Felber, Wolfgang, Dusl, Marina, Stucka, Rolf, Guergueltcheva, Velina, Blaschek, Astrid, von der Hagen, Maja, Huebner, Angela, Müller, Juliane S., Lochmüller, Hanns, Abicht, Angela

    Published 2014
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  19. 19
    Cancer Stem Cells in Pheochromocytoma and Paraganglioma

    Cancer Stem Cells in Pheochromocytoma and Paraganglioma by Scriba, Laura D., Bornstein, Stefan R., Santambrogio, Alice, Mueller, Gregor, Huebner, Angela, Hauer, Julia, Schedl, Andreas, Wielockx, Ben, Eisenhofer, Graeme, Andoniadou, Cynthia L., Steenblock, Charlotte

    Published 2020
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  20. 20
    Diabetes and Neurodegeneration in Wolfram Syndrome: A multicenter study of phenotype and genotype

    Diabetes and Neurodegeneration in Wolfram Syndrome: A multicenter study of phenotype and genotype by Rohayem, Julia, Ehlers, Christian, Wiedemann, Bärbel, Holl, Reinhard, Oexle, Konrad, Kordonouri, Olga, Salzano, Giuseppina, Meissner, Thomas, Burger, Walter, Schober, Edith, Huebner, Angela, Lee-Kirsch, Min Ae

    Published 2011
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