Search Results - Ralf Werner

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  1. 1
    Characteristic Features of Reproductive Hormone Profiles in Late Adolescent and Adult Females with Complete Androgen Insensitivity Syndrome

    Characteristic Features of Reproductive Hormone Profiles in Late Adolescent and Adult Females with Complete Androgen Insensitivity Syndrome by Ulla Doehnert, Silvano Bertelloni, Ralf Werner, Eleonora Dati, Olaf Hiort

    Published 2015
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  2. 2
    Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

    Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-r... by Susanne Thiele, Luisa De Sanctis, Ralf Werner, Joachim Grötzinger, Cumhur Aydın, Harald Jüppner, Murat Bastepe, Olaf Hiort

    Published 2011
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  3. 3
    A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the <i><scp>GNAS</scp></i> gene

    A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations... by Susanne Thiele, Ralf Werner, Joachim Grötzinger, Bettina Brix, Pia Staedt, Dagmar Struve, Benedikt Reiz, Farida Jennane, Olaf Hiort

    Published 2014
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  4. 4
    46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (<i>DHH</i>) Identified by Exome Sequencing

    46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (<i>DHH</i>) Identified by Exome Sequencing by Ralf Werner, Hartmut Merz, Wiebke Birnbaum, Louise Marshall, Tatjana Schröder, Benedikt Reiz, Jennifer M. Kavran, Tobias Bäumer, Philipp Capetian, Olaf Hiort

    Published 2015
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  5. 5
    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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  6. 6
    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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  7. 7
    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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  8. 8
    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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  9. 9
    DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

    DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis by Felipe Rodrigues de Oliveira, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese‐Santos, Sofia Helena Valente de Lemos‐Marini, Andréa Trevas Maciel‐Guerra, Olaf Hiort, Ralf Werner, Gil Guerra‐Júnior, Helena Fabbri‐Scallet

    Published 2023
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  10. 10
    Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype

    Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype by Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic, Luitgard Graul‐Neumann, Jacopo Azzollini, D. Braunholz, Erwan Watrin, Kerstin S. Wendt, Anna Cereda, Davide Cittaro, Gabriele Gillessen‐Kaesbach, Dejan Lazarević, Milena Mariani, Silvia Russo, Ralf Werner, Peter Krawitz, Lidia Larizza, Angelo Selicorni, Frank J. Kaiser

    Published 2015
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  11. 11
    A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication

    A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication by Ana Paula Francese‐Santos, Jakob Meinel, Cristiane S.C. Piveta, Juliana Gabriel Ribeiro de Andrade, Beatriz Amstalden Barros, Helena Fabbri‐Scallet, Vera Lúcia Gil‐da‐Silva‐Lopes, Gil Guerra‐Júnior, Axel Künstner, Hauke Busch, Olaf Hiort, Maricilda Palandi de Mello, Ralf Werner, Andréa Trevas Maciel‐Guerra

    Published 2022
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  12. 12
    From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

    From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network by Susanne Thiele, Giovanna Mantovani, Anne Barlier, Valentina Boldrin, Paolo Bordogna, Luisa De Sanctis, Francesca Marta Elli, Kathleen Freson, Intza Garin, Virginie Grybek, Patrick Hanna, Benedetta Izzi, Olaf Hiort, Beatriz Lecumberri, Arrate Pereda, Vrinda Saraff, Caroline Silve, Serap Turan, Alessia Usardi, Ralf Werner, Guiomar Pérez de Nanclares, Agnès Linglart

    Published 2016
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  13. 13
    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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  14. 14
    Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome

    Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome by Nicolas Kalfa, Pascal Philibert, Ralf Werner, Françoise Audran, Anu Bashamboo, H. Lehors, Myriam Haddad, Jean Michel Guys, Rachel Reynaud, P Alessandrini, Kathy Wagner, J.Y. Kurzenne, F. Bastiani, Jean Bréaud, Jean Stéphane Valla, Gérard Morisson Lacombe, Mattéa Orsini, Jean‐Pierre Daurès, Olaf Hiort, Françoise Paris, Kenneth McElreavey, Charles Sultan

    Published 2013
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  15. 15
    Identification of an <i>AR</i> Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

    Identification of an <i>AR</i> Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity by Nadine Hornig, Martin Ukat, H. U. Schweikert, Olaf Hiort, Ralf Werner, Stenvert L. S. Drop, Martine Cools, I A Hughes, Laura Audí, S. Faisal Ahmed, Jeta Demiri, Pascal Rodens, Lisa Worch, G. R. Wehner, Alexandra Kulle, Désirée Dunstheimer, Elke Müller‐Roßberg, Thomas Reinehr, Ahmed T Hadidi, Anne Katrin Eckstein, Carolyn Horst, C. Seif, R. Siebert, Ole Ammerpohl, P.‐M. Holterhus

    Published 2016
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