Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ralf Lünstedt"'
Autor:
Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort
Publikováno v:
PLoS ONE, Vol 12, Iss 5, p e0176720 (2017)
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we
Externí odkaz:
https://doaj.org/article/835aba8029de45f995189961ff0d0c36
Autor:
Isabel Mönig, Olaf Hiort, Anders Juul, Ralf Werner, Louise Marshall, Ralf Lünstedt, Wiebke Birnbaum, Julia Schneidewind, Lutz Wünsch, Trine Holm Johannsen
Publikováno v:
Mönig, I, Schneidewind, J, Johannsen, T H, Juul, A, Werner, R, Lünstedt, R, Birnbaum, W, Marshall, L, Wünsch, L & Hiort, O 2022, ' Pubertal development in 46,XY patients with NR5A1 mutations ', Endocrine, vol. 75, no. 2, pp. 601-613 . https://doi.org/10.1007/s12020-021-02883-y
Purpose Mutations in the NR5A1 gene, encoding the transcription factor Steroidogenic Factor-1, are associated with a highly variable genital phenotype in patients with 46,XY differences of sex development (DSD). Our objective was to analyse the puber
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4ef5937bddb7fa4057c7090e7bdcb6c
https://pubmed.ncbi.nlm.nih.gov/34613524
https://pubmed.ncbi.nlm.nih.gov/34613524
Autor:
Clemens Freiberg, Isabel Mönig, Ralf Lünstedt, Ulla Döhnert, Alexandra Kulle, Olaf Hiort, Annette Richter-Unruh, Lutz Wünsch, Julia August, Ralf Werner, Benedikt Reiz, Christoph Thorns, Stefan A. Wudy, Paul-Martin Holterhus
Publikováno v:
Sexual Development. 9:260-268
The differential diagnosis of 46,XY disorders of sex development (DSD) is based on the distinction between forms of gonadal dysgenesis and disorders of androgen biosynthesis and action. However, clinical and endocrine evaluations are often not conclu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b64ffa7afeec8bbbd9165cd83a2194d
https://doi.org/10.1159/000442309
https://doi.org/10.1159/000442309
Autor:
Lutz Wünsch, Karl Otfried Schwab, Christoph Thorns, Olaf Hiort, Benedikt Reiz, Paul-Martin Holterhus, Gerhard Binder, Isabel Mönig, Ralf Lünstedt, Ralf Werner, Alexandra Krause
Publikováno v:
PLoS ONE, Vol 12, Iss 5, p e0176720 (2017)
PLoS ONE
PLoS ONE
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1dd0869818681a02dd0f102d4d2fed
http://europepmc.org/articles/PMC5411087?pdf=render
http://europepmc.org/articles/PMC5411087?pdf=render
Autor:
Ralf, Werner, Isabel, Mönig, Julia, August, Clemens, Freiberg, Ralf, Lünstedt, Benedikt, Reiz, Lutz, Wünsch, Paul-Martin, Holterhus, Alexandra, Kulle, Ulla, Döhnert, Stefan A, Wudy, Annette, Richter-Unruh, Christoph, Thorns, Olaf, Hiort
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 9(5)
The differential diagnosis of 46,XY disorders of sex development (DSD) is based on the distinction between forms of gonadal dysgenesis and disorders of androgen biosynthesis and action. However, clinical and endocrine evaluations are often not conclu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c095bcb1885732c01691c880153ee61e
https://pubmed.ncbi.nlm.nih.gov/26681172
https://pubmed.ncbi.nlm.nih.gov/26681172