Search Results - Paul‐Martin Holterhus

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  1. 1
    A Novel Ultrapressure Liquid Chromatography Tandem Mass Spectrometry Method for the Simultaneous Determination of Androstenedione, Testosterone, and Dihydrotestosterone in Pediatric Blood Samples: Age- and Sex-Specific Reference Data

    A Novel Ultrapressure Liquid Chromatography Tandem Mass Spectrometry Method for the Simultaneous Determination of Androstenedione, Testosterone, and Dihydrotestosterone in Pediatri... by Alexandra Kulle, Felix G. Riepe, D. Melchior, Olaf Hiort, Paul‐Martin Holterhus

    Published 2010
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  2. 2
    Relationships Between 24-Hour Urinary Free Cortisol Concentrations and Metabolic Syndrome in Obese Children

    Relationships Between 24-Hour Urinary Free Cortisol Concentrations and Metabolic Syndrome in Obese Children by Thomas Reinehr, Alexandra Kulle, Barbara Wolters, Caroline Knop, Nina Lass, Maik Welzel, Paul‐Martin Holterhus

    Published 2014
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  3. 3
    Steroid Hormone Profiles in Prepubertal Obese Children Before and After Weight Loss

    Steroid Hormone Profiles in Prepubertal Obese Children Before and After Weight Loss by Thomas Reinehr, Alexandra Kulle, Barbara Wolters, Nina Lass, Maik Welzel, Felix G. Riepe, Paul‐Martin Holterhus

    Published 2013
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  4. 4
    Mosaicism due to a Somatic Mutation of the Androgen Receptor Gene Determines Phenotype in Androgen Insensitivity Syndrome1

    Mosaicism due to a Somatic Mutation of the Androgen Receptor Gene Determines Phenotype in Androgen Insensitivity Syndrome1 by Paul‐Martin Holterhus, Hennie T. Brüggenwirth, Olaf Hiort, A. Kleinkauf-Houcken, K. Kruse, Gernot H.G. Sinnecker, Albert O. Brinkmann

    Published 1997
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  5. 5
    Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

    Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations by Soara Menabò, Seher Polat, Lilia Baldazzi, Alexandra Kulle, Paul‐Martin Holterhus, Joachim Grötzinger, Flaminia Fanelli, Antonio Balsamo, Felix G. Riepe

    Published 2013
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  6. 6
    Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure

    Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure by Olaf Hiort, Paul‐Martin Holterhus, Ralf Werner, Christine Marschke, U. Hoppe, Carl‐Joachim Partsch, Felix G. Riepe, John C. Achermann, Dagmar Struve

    Published 2005
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  7. 7
    Formin-mediated nuclear actin at androgen receptors promotes transcription

    Formin-mediated nuclear actin at androgen receptors promotes transcription by Julian Knerr, Ralf Werner, Carsten Schwan, Hong Wang, Peter Gebhardt, Helga Grötsch, Almuth Caliebe, Malte Spielmann, Paul‐Martin Holterhus, Robert Grosse, Nadine Hornig

    Published 2023
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  8. 8
    New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

    New NR5A1 mutations and phenotypic variations of gonadal dysgenesis by Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul‐Martin Holterhus, Olaf Hiort

    Published 2017
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  9. 9
    GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

    GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘... by Laura Audí, S. Faisal Ahmed, Nils Krone, Martine Cools, Ken McElreavey, Paul‐Martin Holterhus, Andy Greenfield, Anu Bashamboo, Olaf Hiort, Stefan A. Wudy, Ruth McGowan, _ _

    Published 2018
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  10. 10
    Hospital admission for diabetic ketoacidosis or severe hypoglycemia in 31 330 young patients with type 1 diabetes

    Hospital admission for diabetic ketoacidosis or severe hypoglycemia in 31 330 young patients with type 1 diabetes by Beate Karges, Joachim Rosenbauer, Paul‐Martin Holterhus, P Beyer, Horst Seithe, Christian Vogel, A Böckmann, Dirk Peters, Silvia Müther, Andreas Neu, Reinhard W. Holl, NULL AUTHOR_ID

    Published 2015
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  11. 11
    A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

    A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation by Nadine Hornig, Carine de Beaufort, Friederike Denzer, Martine Cools, Martin Wabitsch, Martin Ukat, Alexandra Kulle, Hans‐Udo Schweikert, Ralf Werner, Olaf Hiort, Laura Audí, Reiner Siebert, Ole Ammerpohl, Paul‐Martin Holterhus

    Published 2016
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  12. 12
    Pubertal And Gonadal Outcomes In 46,XY Individuals With Partial Androgen Insensitivity Syndrome Raised As Girls

    Pubertal And Gonadal Outcomes In 46,XY Individuals With Partial Androgen Insensitivity Syndrome Raised As Girls by Guilherme Guaragna‐Filho, Gil Guerra‐Júnior, Rieko Tadokoro‐Cuccaro, Ieuan A. Hughes, Beatriz Amstalden Barros, Olaf Hiort, Antonio Balsamo, Tülay Güran, Paul Martin Holterhus, Sabine E Hannema, Şükran Poyrazoğlu, Feyza Darendelıler, Jillian Bryce, S. Faisal Ahmed, Charmian A. Quigley

    Published 2021
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  13. 13
    Diagnosis, Therapy and Follow-Up of Diabetes Mellitus in Children and Adolescents

    Diagnosis, Therapy and Follow-Up of Diabetes Mellitus in Children and Adolescents by Andreas Neu, Jutta Bürger-Büsing, Thomas Danne, Axel Dost, Martin Holder, Reinhard W. Holl, Paul‐Martin Holterhus, Thomas Kapellen, Beate Karges, Olga Kordonouri, Karin Lange, Susanne Müller, Klemens Raile, Roland Schweizer, Simone von Sengbusch, Rainer Stachow, Verena Wagner, Susanna Wiegand, Ralph Ziegler

    Published 2019
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  14. 14
    Disruption of the topological associated domain at Xp21.2 is related to gonadal dysgenesis: A general mechanism of pathogenesis

    Disruption of the topological associated domain at Xp21.2 is related to gonadal dysgenesis: A general mechanism of pathogenesis by Ana Paula Santos, Jakob Meinel, Cristiane dos Santos Cruz Piveta, Juliana Gabriel Ribeiro de Andrade, Helena Fabbri‐Scallet, Vera Lúcia Gil‐da‐Silva‐Lopes, Gil Guerra‐Júnior, Axel Künstner, Frank J. Kaiser, Paul‐Martin Holterhus, Olaf Hiort, Hauke Busch, Andréa Trevas Maciel‐Guerra, Maricilda Palandi de Mello, Ralf Werner

    Published 2020
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  15. 15
    Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry

    Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry by Kathryn Cox, Jillian Bryce, Jipu Jiang, Martina Rodie, Richard Sinnott, Mona Alkhawari, Wiebke Arlt, Laura Audí, Antonio Balsamo, Silvano Bertelloni, Martine Cools, Feyza Darendelıler, Stenvert L. S. Drop, Mona Ellaithi, Tülay Güran, Olaf Hiort, Paul‐Martin Holterhus, Ieuan A. Hughes, Nils Krone, Lidka Lisá, Yves Morel, Olle Söder, Peter Wieacker, S. Faisal Ahmed

    Published 2013
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  16. 16
    Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome

    Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome by Supitcha Patjamontri, Angela K Lucas‐Herald, Jillian Bryce, Erica L.T. van den Akker, Martine Cools, Evgenia Globa, Gil Guerra‐Júnior, Olaf Hiort, Paul L. Hofman, Paul‐Martin Holterhus, Ieuan A. Hughes, Anders Juul, Anna Nordenström, Gianni Russo, Marianna Rita Stancampiano, Sumudu Nimali Seneviratne, Rieko Tadokoro‐Cuccaro, Ajay Thankamony, Naomi Weintrob, Nataliya Zelinska, S. Faisal Ahmed

    Published 2024
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  17. 17
    <i>PRKAR1A</i>and<i>PDE4D</i>Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

    <i>PRKAR1A</i>and<i>PDE4D</i>Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance by Agnès Linglart, Helena Fryssira, Olaf Hiort, Paul-Martin Holterhus, Guiomar Pérez de Nanclares, Jesús Argente, Claudine Heinrichs, Alma Kuechler, Giovanna Mantovani, Bruno Leheup, Philippe Wicart, Virginie Chassot, Dorothée Schmidt, Oscar Rubio‐Cabezas, Annette Richter-Unruh, Sara Berrade, Arrate Pereda, Emese Boros, M.T. Muñoz-Calvo, Marco Castori, Yasemin Güneş, Guylène Bertrand, Pierre Bougnères, Éric Clauser, Caroline Silve

    Published 2012
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  18. 18
    Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal

    Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org P... by Laura Kranenburg, Sam T. H. Reerds, Martine Cools, Julie Alderson, Miriam Muscarella, E. Magrite, Martijn Kuiper, S. Abdelgaffar, Antonio Balsamo, Raja Brauner, Jean‐Pierre Chanoine, Asma Deeb, Patricia Y. Fechner, Alina German, Paul Martin Holterhus, Anders Juul, Berenice B. Mendonça, Kristen Neville, Anna Nordenström, Wilma Oostdijk, Rodolfo A. Rey, Meilan M. Rutter, Nalini S. Shah, Xiaoping Luo, Kalinka Grijpink, Stenvert L. S. Drop

    Published 2017
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  19. 19
    A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

    A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development by Elisa De Franco, Rachel A. Watson, Wolfgang J. Weninger, Chi Chun Wong, Sarah E. Flanagan, Richard Caswell, Angela Green, Catherine Tudor, Christopher J. Lelliott, Stefan H. Geyer, Barbara Maurer‐Gesek, Lukas F. Reissig, Hana Lango Allen, Almuth Caliebe, Reiner Siebert, Paul Martin Holterhus, Asma Deeb, Fabrice Prin, Robert Hilbrands, Harry Heimberg, Sian Ellard, Andrew T. Hattersley, Inês Barroso

    Published 2019
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  20. 20
    Response to Letter to the Editor: “Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis”

    Response to Letter to the Editor: “Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis” by Marie Lindhardt Ljubicic, Anne Jørgensen, Juliana Gabriel Ribeiro de Andrade, Antonio Balsamo, Silvano Bertelloni, Martine Cools, Rieko Tadokoro Cuccaro, Feyza Darendelıler, Christa E. Flück, Romina P. Grinspon, Andréa Trevas Maciel‐Guerra, Tülay Güran, Sabine E Hannema, Angela K Lucas‐Herald, Olaf Hiort, Paul Martin Holterhus, Corina Lichiardopol, Leendert H. J. Looijenga, Rita Ortolano, Stefan Riedl, S. Faisal Ahmed, Anders Juul

    Published 2019
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