A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations...

by Thiele, Susanne, Werner, Ralf, Grötzinger, Joachim, Brix, Bettina, Staedt, Pia, Struve, Dagmar, Reiz, Benedikt, Farida, Jennane, Hiort, Olaf
Published 2015

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivi...

by Holterhus, Paul-Martin, Deppe, Uta, Werner, Ralf, Richter-Unruh, Annette, Bebermeier, Jan-Hendrik, Wünsch, Lutz, Krege, Susanne, Schweikert, Hans-Udo, Demeter, Janos, Riepe, Felix, Hiort, Olaf, Brooks, James D
Published 2007

Androgen Receptor Function Links Human Sexual Dimorphism to DNA Methylation

by Ammerpohl, Ole, Bens, Susanne, Appari, Mahesh, Werner, Ralf, Korn, Bernhard, Drop, Stenvert L. S., Verheijen, Frans, van der Zwan, Yvonne, Bunch, Trevor, Hughes, Ieuan, Cools, Martine, Riepe, Felix G., Hiort, Olaf, Siebert, Reiner, Holterhus, Paul-Martin
Published 2013

A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

by Hornig, Nadine C., de Beaufort, Carine, Denzer, Friederike, Cools, Martine, Wabitsch, Martin, Ukat, Martin, Kulle, Alexandra E., Schweikert, Hans-Udo, Werner, Ralf, Hiort, Olaf, Audi, Laura, Siebert, Reiner, Ammerpohl, Ole, Holterhus, Paul-Martin
Published 2016

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome

by Kalfa, Nicolas, Philibert, Pascal, Werner, Ralf, Audran, Françoise, Bashamboo, Anu, Lehors, Hélène, Haddad, Myriam, Guys, Jean Michel, Reynaud, Rachel, Alessandrini, Pierre, Wagner, Kathy, Kurzenne, Jean Yves, Bastiani, Florence, Bréaud, Jean, Valla, Jean Stéphane, Lacombe, Gérard Morisson, Orsini, Mattea, Daures, Jean-Pierre, Hiort, Olaf, Paris, Françoise, McElreavey, Kenneth, Sultan, Charles
Published 2013