Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting

por Thiele, Susanne, Werner, Ralf, Stubbe, Annika, Hiort, Olaf, Hoeppner, Wolfgang
Publicado 2020

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

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

CYP17A1 deficient XY mice display susceptibility to atherosclerosis, altered lipidomic profile and atypical sex development

por Aherrahrou, Redouane, Kulle, Alexandra E., Alenina, Natalia, Werner, Ralf, Vens-Cappell, Simeon, Bader, Michael, Schunkert, Heribert, Erdmann, Jeanette, Aherrahrou, Zouhair
Publicado 2020

Pubertal development in 46,XY patients with NR5A1 mutations

por Mönig, Isabel, Schneidewind, Julia, Johannsen, Trine H., Juul, Anders, Werner, Ralf, Lünstedt, Ralf, Birnbaum, Wiebke, Marshall, Louise, Wünsch, Lutz, Hiort, Olaf
Publicado 2021

MYRF: A New Regulator of Cardiac and Early Gonadal Development—Insights from Single Cell RNA Sequencing Analysis

por Calonga-Solís, Verónica, Fabbri-Scallet, Helena, Ott, Fabian, Al-Sharkawi, Mostafa, Künstner, Axel, Wünsch, Lutz, Hiort, Olaf, Busch, Hauke, Werner, Ralf
Publicado 2022

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

por Werner, Ralf, Mönig, Isabel, Lünstedt, Ralf, Wünsch, Lutz, Thorns, Christoph, Reiz, Benedikt, Krause, Alexandra, Schwab, Karl Otfried, Binder, Gerhard, Holterhus, Paul-Martin, Hiort, Olaf
Publicado 2017

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

por Holterhus, Paul-Martin, Bebermeier, Jan-Hendrik, Werner, Ralf, Demeter, Janos, Richter-Unruh, Annette, Cario, Gunnar, Appari, Mahesh, Siebert, Reiner, Riepe, Felix, Brooks, James D, Hiort, Olaf
Publicado 2009

Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis

por Meinel, Jakob A, Yumiceba, Verónica, Künstner, Axel, Schultz, Kristin, Kruse, Nathalie, Kaiser, Frank J, Holterhus, Paul-Martin, Claviez, Alexander, Hiort, Olaf, Busch, Hauke, Spielmann, Malte, Werner, Ralf
Publicado 2023

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

por 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
Publicado 2007

Metabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome

por Auer, Matthias K., Birnbaum, Wiebke, Hartmann, Michaela F., Holterhus, Paul-Martin, Kulle, Alexandra, Lux, Anke, Marshall, Luise, Rall, Katarina, Richter-Unruh, Annette, Werner, Ralf, Wudy, Stefan A., Hiort, Olaf
Publicado 2022

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

por 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
Publicado 2016

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

por de Oliveira, Felipe Rodrigues, Mazzola, Taís Nitsch, de Mello, Maricilda Palandi, Francese-Santos, Ana Paula, de Lemos-Marini, Sofia Helena V., Maciel-Guerra, Andrea Trevas, Hiort, Olaf, Werner, Ralf, Guerra-Junior, Gil, Fabbri-Scallet, Helena
Publicado 2023

Androgen Receptor Function Links Human Sexual Dimorphism to DNA Methylation

por 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
Publicado 2013

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication

por Francese-Santos, Ana Paula, Meinel, Jakob A., Piveta, Cristiane S. C., Andrade, Juliana G. R., Barros, Beatriz A., Fabbri-Scallet, Helena, Gil-da-Silva-Lopes, Vera Lúcia, Guerra-Junior, Gil, Künstner, Axel, Busch, Hauke, Hiort, Olaf, de Mello, Maricilda P., Werner, Ralf, Maciel-Guerra, Andréa T.
Publicado 2022

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

por 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
Publicado 2013