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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 insufficiency. [electronic resource] by
- Köhler, Birgit
- Lin, Lin
- Mazen, Inas
- Cetindag, Cigdem
- Biebermann, Heike
- Akkurt, Ilker
- Rossi, Rainer
- Hiort, Olaf
- Grüters, Annette
- Achermann, John C
Producer: 20090812
In:
European journal of endocrinology vol. 161
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22.
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Caring for individuals with a difference of sex development (DSD): a Consensus Statement. [electronic resource] by
- Cools, Martine
- Nordenström, Anna
- Robeva, Ralitsa
- Hall, Joanne
- Westerveld, Puck
- Flück, Christa
- Köhler, Birgit
- Berra, Marta
- Springer, Alexander
- Schweizer, Katinka
- Pasterski, Vickie
Producer: 20190716
In:
Nature reviews. Endocrinology vol. 14
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24.
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Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. [electronic resource] by
- Tantawy, Sally
- Lin, Lin
- Akkurt, Ilker
- Borck, Guntram
- Klingmüller, Dietrich
- Hauffa, Berthold P
- Krude, Heiko
- Biebermann, Heike
- Achermann, John C
- Köhler, Birgit
Producer: 20120914
In:
European journal of endocrinology vol. 167
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25.
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Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. [electronic resource] by
- Köhler, Birgit
- Lin, Lin
- Ferraz-de-Souza, Bruno
- Wieacker, Peter
- Heidemann, Peter
- Schröder, Vanessa
- Biebermann, Heike
- Schnabel, Dirk
- Grüters, Annette
- Achermann, John C
Producer: 20080206
In:
Human mutation vol. 29
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27.
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Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling. [electronic resource] by
- Köhler, Birgit
- Lumbroso, Serge
- Leger, Juliane
- Audran, Francoise
- Grau, Enric Sarret
- Kurtz, Francois
- Pinto, Graziella
- Salerno, Mariacarolina
- Semitcheva, Tatiana
- Czernichow, Paul
- Sultan, Charles
Producer: 20050210
In:
The Journal of clinical endocrinology and metabolism vol. 90
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28.
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29.
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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. [electronic resource] by
- Röhle, Robert
- Gehrmann, Katharina
- Szarras-Czapnik, Maria
- Claahsen-van der Grinten, Hedi
- Pienkowski, Catherine
- Bouvattier, Claire
- Cohen-Kettenis, Peggy
- Nordenström, Anna
- Thyen, Ute
- Köhler, Birgit
Producer: 20180606
In:
BMC endocrine disorders vol. 17
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30.
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Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum. [electronic resource] by
- Burgemeister, Anna L
- Daumiller, Eva
- du Bois, Gabriele
- Graul-Neumann, Luitgard M
- Köhler, Birgit
- Knecht, Susanne
- Burgemeister, Stefan
- Gronwald, Sarah
- Maurer, Martin H
- Zirn, Birgit
Producer: 20190308
In:
European journal of medical genetics vol. 62
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31.
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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. [electronic resource] by
- Słowikowska-Hilczer, Jolanta
- Hirschberg, Angelica Lindén
- Claahsen-van der Grinten, Hedi
- Reisch, Nicole
- Bouvattier, Claire
- Thyen, Ute
- Cohen Kettenis, Peggy
- Roehle, Robert
- Köhler, Birgit
- Nordenström, Anna
Producer: 20171113
In:
Fertility and sterility vol. 108
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32.
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Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development. [electronic resource] by
- Nordenström, Anna
- Röhle, Robert
- Thyen, Ute
- Bouvattier, Claire
- Slowikowska-Hilczer, Jolanta
- Reisch, Nicole
- Claahsen van der Grinten, Hedi
- Brac de la Perriere, Aude
- Cohen-Kettenis, Peggy T
- Köhler, Birgit
Producer: 20190913
In:
Clinical endocrinology vol. 88
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33.
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Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet. [electronic resource] by
- Flück, Christa
- Nordenström, Anna
- Ahmed, S Faisal
- Ali, Salma R
- Berra, Marta
- Hall, Joanne
- Köhler, Birgit
- Pasterski, Vickie
- Robeva, Ralitsa
- Schweizer, Katinka
- Springer, Alexander
- Westerveld, Puck
- Hiort, Olaf
- Cools, Martine
Producer: 20191129
In:
European journal of endocrinology vol. 181
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34.
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Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial. [electronic resource] by
- Birnbaum, Wiebke
- Marshall, Louise
- Werner, Ralf
- Kulle, Alexandra
- Holterhus, Paul-Martin
- Rall, Katharina
- Köhler, Birgit
- Richter-Unruh, Annette
- Hartmann, Michaela F
- Wudy, Stefan A
- Auer, Matthias K
- Lux, Anke
- Kropf, Siegfried
- Hiort, Olaf
Producer: 20190710
In:
The lancet. Diabetes & endocrinology vol. 6
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35.
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Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries. [electronic resource] by
- de Vries, Annelou L C
- Roehle, Robert
- Marshall, Louise
- Frisén, Louise
- van de Grift, Tim C
- Kreukels, Baudewijntje P C
- Bouvattier, Claire
- Köhler, Birgit
- Thyen, Ute
- Nordenström, Anna
- Rapp, Marion
- Cohen-Kettenis, Peggy T
Producer: 20200623
In:
Psychosomatic medicine vol. 81
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36.
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Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. [electronic resource] by
- 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
Producer: 20110523
In:
The Journal of clinical endocrinology and metabolism vol. 96
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37.
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Karyotype - Phenotype Associations in Patients with Turner Syndrome. [electronic resource] by
- Noordman, Iris D
- van der Velden, Janiëlle Aem
- Timmers, Henri Jlm
- Pienkowski, Catherine
- Köhler, Birgit
- Kempers, Marlies
- Reisch, Nicole
- Richter-Unruh, Annette
- Arlt, Wiebke
- Nordenström, Anna
- Webb, Emma A
- Roeleveld, Nel
- Claahsen-van der Grinten, Hedi L
Producer: 20190710
In:
Pediatric endocrinology reviews : PER vol. 16
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38.
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Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. [electronic resource] by
- Philibert, Pascal
- Audran, Françoise
- Pienkowski, Catherine
- Morange, Isabelle
- Kohler, Birgit
- Flori, Elisabeth
- Heinrich, Claudine
- Dacou-Voutetakis, Catherine
- Joseph, Marie-Geneviève
- Guedj, Anne-Marie
- Journel, Hubert
- Hecart-Bruna, Annie-Claude
- Khotchali, Ines
- Ten, Svetlana
- Bouchard, Philippe
- Paris, Françoise
- Sultan, Charles
Producer: 20100723
In:
Fertility and sterility vol. 94
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39.
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Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development. [electronic resource] by
- Tantawy, Sally
- Mazen, Inas
- Soliman, Hala
- Anwar, Ghada
- Atef, Abeer
- El-Gammal, Mona
- El-Kotoury, Ahmed
- Mekkawy, Mona
- Torky, Ahmad
- Rudolf, Agnes
- Schrumpf, Pamela
- Grüters, Annette
- Krude, Heiko
- Dumargne, Marie-Charlotte
- Astudillo, Rebekka
- Bashamboo, Anu
- Biebermann, Heike
- Köhler, Birgit
Producer: 20140610
In:
European journal of endocrinology vol. 170
Availability: No items available.
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40.
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Birth Weight in Different Etiologies of Disorders of Sex Development. [electronic resource] by
- Poyrazoglu, Sukran
- Darendeliler, Feyza
- Ahmed, S Faisal
- Hughes, Ieuan
- Bryce, Jillian
- Jiang, Jipu
- Rodie, Martina
- Hiort, Olaf
- Hannema, Sabine E
- Bertelloni, Silvano
- Lisa, Lidka
- Guran, Tulay
- Cools, Martine
- Desloovere, An
- Claahsen-van der Grinten, Hedi L
- Nordenstrom, Anna
- Holterhus, Paul-Martin
- Kohler, Birgit
- Niedziela, Marek
- Krone, Nils
Producer: 20170612
In:
The Journal of clinical endocrinology and metabolism vol. 102
Availability: No items available.
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