Resultados da busca - Birgit Köhler
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The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insuffici... por Birgit Köhler, Lin Lin, Inas Mazen, Cigdem Cetindag, Heike Biebermann, Ilker Akkurt, Rainer Rossi, Olaf Hiort, Annette Grüters, John C. Achermann
Publicado em 2009Artigo -
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Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations por Sally Tantawy, Lin Lin, İltaç Akkurt, Guntram Borck, Dietrich Klingmüller, B. P. Hauffa, Heiko Krude, Heike Biebermann, John C. Achermann, Birgit Köhler
Publicado em 2012Artigo -
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Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference pop... por Marion Rapp, Esther Mueller‐Godeffroy, Peter A. Lee, Robert Roehle, Baudewijntje P.C. Kreukels, Birgit Köhler, Anna Nordenström, Claire Bouvattier, Ute Thyen
Publicado em 2018Artigo -
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Five novel mutations in steroidogenic factor 1 (SF1,NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency por Birgit Köhler, Lin Lin, Bruno Ferraz‐de‐Souza, Peter Wieacker, Peter H. Heidemann, Vanessa Schröder, Heike Biebermann, Dirk Schnabel, Annette Grüters, John C. Achermann
Publicado em 2007Artigo -
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Androgen Insensitivity Syndrome: Somatic Mosaicism of the Androgen Receptor in Seven Families and Consequences for Sex Assignment and Genetic Counseling por Birgit Köhler, Serge Lumbroso, Juliane Léger, Françoise Audran, Enric Sarret Grau, F Kurtz, Graziella Pinto, Mariacarolina Salerno, Tatiana V. Semitcheva, Paul Czernichow, Charles Sultan
Publicado em 2005Artigo -
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Caring for individuals with a difference of sex development (DSD): a Consensus Statement por Martine Cools, Anna Nordenström, Ralitsa Robeva, J. Camille Hall, Puck Westerveld, Christa E. Flück, Birgit Köhler, Marta Berra, Alexander Springer, Katinka Schweizer, Vickie Pasterski
Publicado em 2018Revisão -
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Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study por Henrik Falhammar, Hedi L. Claahsen‐van der Grinten, Nicole Reisch, Jolanta Słowikowska‐Hilczer, Anna Nordenström, Robert Roehle, Claire Bouvattier, Baudewijntje P.C. Kreukels, Birgit Köhler, _ _
Publicado em 2018Artigo -
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Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population por Robert Röhle, Katharina Gehrmann, Maria Szarras‐Czapnik, Hedi L. Claahsen‐van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy T. Cohen–Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
Publicado em 2017Artigo -
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Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries por A. de Vries, Robert Roehle, Louise Marshall, Louise Frisén, Tim C. van de Grift, Baudewijntje P.C. Kreukels, Claire Bouvattier, Birgit Köhler, Ute Thyen, Anna Nordenström, Marion Rapp, Peggy T. Cohen–Kettenis
Publicado em 2019Artigo -
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Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study por Jolanta Słowikowska‐Hilczer, Angelica Lindén Hirschberg, Hedi L. Claahsen‐van der Grinten, Nicole Reisch, Claire Bouvattier, Ute Thyen, Peggy Cohen Kettenis, Robert Roehle, Birgit Köhler, Anna Nordenström, Birgit Köhler, Peggy T. Cohen–Kettenis, A. de Vries, Wiebke Arlt, Claudia Wiesemann, Jolanta Słowikowska‐Hilczer, Aude Brac de la Perrière, C. Sultan, Francoise Paris, Claire Bouvattier, Ute Thyen, Nicole Reisch, Annette Richter-Unruh, Hedi L. Claahsen‐van der Grinten, Anna Nordenström, Catherine Pienkowski, Maria Szarras‐Czapnik
Publicado em 2017Artigo -
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Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency por Jan Idkowiak, Stephen O’Riordan, Nicole Reisch, E Małunowicz, Felicity Collins, Michiel N. Kerstens, Birgit Köhler, Luitgard Graul‐Neumann, Maria Szarras‐Czapnik, Mehul Dattani, Martin Silink, Cedric Shackleton, Dominique Maiter, Nils Krone, Wiebke Arlt
Publicado em 2010Artigo -
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Sexuality in Adults with Differences/Disorders of Sex Development (DSD): Findings from the dsd-LIFE Study por Baudewijntje P.C. Kreukels, Peggy T. Cohen–Kettenis, Robert Roehle, Tim C. van de Grift, Jolanta Słowikowska‐Hilczer, Hedi L. Claahsen‐van der Grinten, Angelica Lindén Hirschberg, A. de Vries, Nicole Reisch, Claire Bouvattier, Anna Nordenström, Ute Thyen, Birgit Köhler, On behalf of the dsd-LIFE group
Publicado em 2019Artigo -
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Management of Gonads in Adults with Androgen Insensitivity: An International Survey por Lloyd Tack, Ellen Maris, Leendert H. J. Looijenga, Sabine E Hannema, Laura Audí, Birgit Köhler, Paul-Martin Holterhus, Stefan Riedl, Amy B. Wisniewski, Christa E. Flück, Justin H. Davies, Guy T’Sjoen, Angela K Lucas‐Herald, Olcay Evliyaoğlu, Nils Krone, Violeta Iotova, Otilia Mărginean, Antonio Balsamo, Gilvydas Verkauskas, Naomi Weintrob, Mona Ellaithi, Anna Nordenström, Annemarie Verrijn Stuart, Kirsten B. Kluivers, Katja P. Wolffenbuttel, S. Faisal Ahmed, Martine Cools
Publicado em 2018Artigo -
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Gonadal function in adult male patients with congenital adrenal hyperplasia por Manon Engels, Katharina Gehrmann, Henrik Falhammar, Emma Webb, Anna Nordenström, Fred C.G.J. Sweep, Paul N. Span, Antonius E. van Herwaarden, Julia Rohayem, Anette Richter-Unruh, Claire Bouvattier, Birgit Köhler, B.B.M. Kortmann, Wiebke Arlt, Nel Roeleveld, Nicole Reisch, Nike Stikkelbroeck, Hedi L. Claahsen‐van der Grinten, _ _, _ _, Peggy Cohen-Kettenis, A. de Vries, Claudia Wiesemann, Jolanta Słowikowska‐Hilczer, Aude Brac de la Perrière, Charles Sultan, Françoise Paris, Ute Thyen, Catherine Pienkowski, Maria Szarras‐Czapnik
Publicado em 2018Artigo -
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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency por Nils Krone, Nicole Reisch, Jan Idkowiak, Vivek Dhir, Hannah E Ivison, Beverly Hughes, Ian T. Rose, Donna O’Neil, Raymon Vijzelaar, Matthew J. Smith, Fiona MacDonald, Trevor Cole, Nicolai Adolphs, John Barton, Edward Blair, Stephen R. Braddock, Felicity Collins, Deborah Cragun, Mehul Dattani, Ruth Day, Shelley Dougan, Miriam Feist, Michael Gottschalk, John W. Gregory, Michaela Haim, Rachel Harrison, Ann Haskins Olney, Berthold P. Hauffa, Peter C. Hindmarsh, Robert J. Hopkin, Petr Jira, Marlies Kempers, Michiel N. Kerstens, Mohamed M. Khalifa, Birgit Köhler, Dominique Maiter, Shelly Nielsen, Stephen O’Riordan, Christian Roth, Kate Shane-Carson, Martin Silink, Nike Stikkelbroeck, Elizabeth Sweeney, Maria Szarras‐Czapnik, John Waterson, Lori Williamson, Michaela F. Hartmann, Norman Taylor, Stefan A. Wudy, E Małunowicz, Cedric Shackleton, Wiebke Arlt
Publicado em 2011Artigo
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Assuntos relacionados
Medicine
Internal medicine
Biology
Disorders of sex development
Endocrinology
Genetics
Cancer
Congenital adrenal hyperplasia
Gene
Gynecology
Psychology
Sociology
Adrenal insufficiency
Androgen receptor
Economics
Environmental health
Hormone
Missense mutation
Phenotype
Population
Prostate cancer
Androgen
Clinical psychology
Cohort
Complete androgen insensitivity syndrome
Family medicine
Gerontology
Gonadal dysgenesis
Hypospadias
Nuclear receptor