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Vroede, M.A. de
( M.A. de Vroede)
patient mutation androgen family deficiency library erasmus mc phenotype study phenotypic variation genitalia androgen insensitivity syndrome pubic hair insensitivity netherland receptor phenotypic hsd 17b gene dutch analysis endocrinology subject diagnosis boehmer incidence variation hydroxysteroid t /a ratios erasmu table ais patients university syndrome serum genotype wolffian pubic wild-type transcript hospital stage ratio virilization transcript control wolffian duct derivatives prepubertal downloaded library 3 t mutation androgen insensitivity allele genotype vs department dehydrogenase binding haplotype level endocrinol patient 1- i mutation p 389s testosterone splice site mutations ar gene mutation sex assignment inguinal mutation analysis /liter expression ar gene birth 3-deficient androgen receptor tanner testicular wild-type frequency cais patients metab patient 9- iii carrier frequency androgen receptor gene
2 Most Recent Publications
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Genotype versus phenotype in families with androgen insensitivity syndrome
(Article)
Boehmer, A.L.M. Oostdijk, W. Rouwé, C.W. Kwast, Th.H. van der Waelkens, J.J. Kleijer, W.J. Bruggenwirth, H.T. Assendelft, C. van Drop, S.L.S. Otten, B.J. Verleun-Mooijman, M.C. Niermeijer, M.F. Vroede, M.A. de Brunner, H.G. |
2001-01-01
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17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
(Article)
Boehmer, A.L.M. Halley, D.J.J. Rodrigues, C. Otten, B.J. Mendonça, B.B. Delemarre-van de Waal, H.A. Rouwé, C.W. Brinkmann, A.O. Sandkuijl, L.A. Ruiter, P.E. de Niermeijer, M.F. Andersson, S. Jong, F.H. de Bode, H.H. Drop, S.L.S. Kayserili, H. Vroede, M.A. de |
1999-01-01
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