Výsledky vyhledávání - "R. J. Jäger"

Gonadal Agenesis in a 46, XY Female with Multiple Malformations and Positive Testing for the Sex-Determining Region of the Y Chromosome

Autor: R. J. Jäger, L. Gortner, B. Heymer, W. Sorgo, M. Graf, R. Oberhoffer, Peter Bartmann, Milo Zachmann, H.P. Streb, U. Lattermann, Cecilia Ebensperger, Walter M. Teller

Publikováno v: Hormone Research. 35:124-131

A full-term 46,XY female newborn presented with respiratory failure due to a right-sided diaphragmatic hernia. During surgical repair, exploration revealed isolated dextrocardia and hypoplasia of the right lung. Neither gonads nor wolffian or müller

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e72d9c50da9ff19687239b1397a0fe36
https://doi.org/10.1159/000181887

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No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia

Autor: C, Ebensperger, R J, Jäger, U, Lattermann, F, Dagna Bricarelli, J, Keutel, J, Lindsten, H, Rehder, U, Müller, U, Wolf

Publikováno v: Annales de genetique. 34(3-4)

Campomelic dysplasia (Cd) occurs combined with sex reversal resulting in XY females. The recent identification of candidate genes for sex determination/differentiation and of a sex determining region on the human Y chromosome prompted the authors to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9a9d2ee60eff823c4b7e6a9a810d585a
https://pubmed.ncbi.nlm.nih.gov/1809232

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