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1

Male Gender Identity in Complete Androgen Insensitivity Syndrome

Guy T’Sjoen, Griet De Cuypere, Stan Monstrey, Piet Hoebeke, F. Kenneth Freedman, Mahesh Appari, Paul-Martin Holterhus, John Van Borsel, Martine Cools

Journal:

Archives of Sexual Behavior

Année:

2011

Langue:

english

Fichier:

PDF, 183 KB

english, 2011

2

Gender role behavior in children with XY karyotype and disorders of sex development

Martina Jürgensen, Olaf Hiort, Paul-Martin Holterhus, Ute Thyen

Journal:

Hormones and Behavior

Année:

2007

Langue:

english

Fichier:

PDF, 202 KB

english, 2007

3

Hospital admission for diabetic ketoacidosis or severe hypoglycemia in 31 330 young patients with type 1 diabetes

Karges, Beate, Rosenbauer, Joachim, Holterhus, Paul-Martin, Beyer, Peter, Seithe, Horst, Vogel, Christian, Böckmann, Andreas, Peters, Dirk, Müther, Silvia, Neu, Andreas, Holl, Reinhard W

Journal:

European Journal of Endocrinology

Année:

2015

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2015

4

Multiples of Median-Transformed, Normalized Reference Ranges of Steroid Profiling Data Independent of Age, Sex, and Units

Zalas, Dominika, Reinehr, Thomas, Niedziela, Marek, Borzikowsky, Christoph, Flader, Maciej, Simic-Schleicher, Gunter, Akkurt, Halit Ilker, Heger, Sabine, Hornig, Nadine, Holterhus, Paul-Martin, Kulle,

Journal:

Hormone Research in Paediatrics

Année:

2018

Langue:

english

Fichier:

PDF, 270 KB

english, 2018

5

Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial

Birnbaum, Wiebke, Marshall, Louise, Werner, Ralf, Kulle, Alexandra, Holterhus, Paul-Martin, Rall, Katharina, Köhler, Birgit, Richter-Unruh, Annette, Hartmann, Michaela F, Wudy, Stefan A, Auer, Matthia

Journal:

The Lancet Diabetes & Endocrinology

Année:

2018

Langue:

english

Fichier:

PDF, 377 KB

english, 2018

6

Growth Hormone Treatment for Short Stature in the USA, Germany and France: 15 Years of Surveillance in the Genetics and Neuroendocrinology of Short-Stature International Study (GeNeSIS)

Pfäffle, Roland, Land, Christof, Schönau, Eckhard, Holterhus, Paul-Martin, Ross, Judith L., Piras de Oliveira, Carolina, Child, Christopher J., Benabbad, Imane, Jia, Nan, Jung, Heike, Blum, Werner F.

Journal:

Hormone Research in Paediatrics

Année:

2018

Langue:

english

Fichier:

PDF, 326 KB

english, 2018

7

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Tack, Lloyd J.W., Maris, Ellen, Looijenga, Leendert H.J., Hannema, Sabine E., Audi, Laura, Köhler, Birgit, Holterhus, Paul-Martin, Riedl, Stefan, Wisniewski, Amy , Flück, Christa E., Davies, Justin H.

Journal:

Hormone Research in Paediatrics

Année:

2018

Langue:

english

Fichier:

PDF, 324 KB

english, 2018

8

The clinical and molecular spectrum of androgen insensitivity syndromes

Hiort, Olaf, Sinnecker, Gernot H. G., Holterhus, Paul-Martin, Nitsche, Esther M., Kruse, Klaus

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 497 KB

1996

9

A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5α-reductase deficiency

Olaf Hiort, Snjezana M. Schütt, Monika Bals-Pratsch, Paul-Martin Holterhus, Christine Marschke, Dagmar Struve

Journal:

International Journal of Andrology

Année:

2002

Langue:

english

Fichier:

PDF, 95 KB

english, 2002

10

Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription

Jan-Hendrik Bebermeier, James D. Brooks, Samuel E. DePrimo, Ralf Werner, Uta Deppe, Janos Demeter, Olaf Hiort, Paul-Martin Holterhus

Journal:

Journal of Molecular Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 669 KB

english, 2006

11

Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome

Mahesh Appari, Ralf Werner, Lutz Wünsch, Gunnar Cario, Janos Demeter, Olaf Hiort, Felix Riepe, James D. Brooks, Paul-Martin Holterhus

Journal:

Journal of Molecular Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 273 KB

english, 2009

12

Immunohistochemistry and in situ hybridization of the androgen receptor in the developing human prostate

G. Aumüller, Paul-Martin Holterhus, Lutz Konrad, Burkhard von Rahden, Olaf Hiort, Murielle Esquenet, Guido Verhoeven

Journal:

Brain Structure and Function (Anatomy and Embryology 1891-2006)

Année:

1998

Langue:

english

Fichier:

PDF, 3.31 MB

english, 1998

13

Delayed menarche in young German women with type 1 diabetes mellitus: recent results from the DPV diabetes documentation and quality management system

Tilman Rohrer, Eva Stierkorb, Matthias Grabert, Paul-Martin Holterhus, Thomas Kapellen, Ina Knerr, Monika Mix, Reinhard W. Holl, on behalf of the DPV Initiative

Journal:

European Journal of Pediatrics

Année:

2008

Langue:

english

Fichier:

PDF, 144 KB

english, 2008

14

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel

Felix G. Riepe, Miguel X. P. Van Bemmelen, Francois Cachat, Hansjörg Plendl, Ivan Gautschi, Nils Krone, Paul-Martin Holterhus, Gerald Theintz, Laurent Schild

Journal:

Clinical Endocrinology

Année:

2009

Langue:

english

Fichier:

PDF, 278 KB

english, 2009

15

Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family

Ilhem Ben Charfeddine, Felix G. Riepe, Najoua Kahloul, Alexandra E. Kulle, Labiba Adala, Ons Mamaï, Abdelbasset Amara, Amira Mili, Fathi Amri, Ali Saad, Paul-Martin Holterhus, Moez Gribaa

Journal:

General and Comparative Endocrinology

Année:

2012

Langue:

english

Fichier:

PDF, 807 KB

english, 2012

16

Post-zygotic mutations and somatic mosaicism in androgen insensitivity syndrome

Paul-Martin Holterhus, Hennie T. Brüggenwirth, Albert O. Brinkmann, Olaf Hiort

Journal:

Trends in Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 25 KB

english, 2001

17

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

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

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 537 KB

english, 2009

18

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

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

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 678 KB

english, 2007

19

A de novo 1.1 Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

Susanne Bens, Andrea Haake, Holger Tönnies, Inga Vater, Ulrich Stephani, Paul-Martin Holterhus, Reiner Siebert, Almuth Caliebe

Journal:

European Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 758 KB

english, 2011

20

Transcriptional response of peripheral blood mononuclear cells to recombinant human growth hormone in a routine four-days IGF-I generation test

Maik Welzel, Mahesh Appari, Nuria Bramswig, Felix G. Riepe, Paul-Martin Holterhus

Journal:

Growth Hormone & IGF Research

Année:

2011

Langue:

english

Fichier:

PDF, 744 KB

english, 2011

21

First Steps Towards the Engineering of Genital Skin

Lutz Wünsch, Janina Kalk, Ralf Werner, Paul Martin Holterhus, Olaf Hiort

Journal:

Journal of Pediatric Urology

Année:

2010

Langue:

english

Fichier:

PDF, 47 KB

english, 2010

22

Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs

Ralf Werner, Jenny Schütt, Sabine Hannema, Albrecht Röpke, Peter Wieacker, Olaf Hiort, Paul-Martin Holterhus

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Année:

2006

Langue:

english

Fichier:

PDF, 696 KB

english, 2006

23

Inherited and de novo androgen receptor gene mutations: Investigation of single-case families

Olaf Hiort, Gernot H.G. Sinnecker, Paul-Martin Holterhus, Esther Maria Nitsche, Klaus Kruse

Journal:

The Journal of Pediatrics

Année:

1998

Langue:

english

Fichier:

PDF, 290 KB

english, 1998

24

Physiology and pathophysiology of androgen action

Olaf Hiort, Paul-Martin Holterhus, Esther M. Nitsche

Journal:

Baillière's Clinical Endocrinology and Metabolism

Année:

1998

Langue:

english

Fichier:

PDF, 1.46 MB

english, 1998

25

Complete androgen insensitivity caused by a splice donor site mutation in intron 2 of the human androgen receptor gene resulting in an exon 2-lacking transcript with premature stop-codon and reduced expression

Olaf José-Carlos Hellwinkel, Kerstin Bull, Paul-Martin Holterhus, Nicole Homburg, Dagmar Struve, Olaf Hiort

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Année:

1999

Langue:

english

Fichier:

PDF, 402 KB

english, 1999

26

Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor

Paul-Martin Holterhus, Olaf Hiort, Janos Demeter, Patrick O Brown…

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2003

27

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

Menabò, Soara, Polat, Seher, Baldazzi, Lilia, Kulle, Alexandra E, Holterhus, Paul-Martin, Grötzinger, Joachim, Fanelli, Flaminia, Balsamo, Antonio, Riepe, Felix G

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.30 MB

english, 2014

28

Relationships Between 24-Hour Urinary Free Cortisol Concentrations and Metabolic Syndrome in Obese Children

Reinehr, Thomas, Kulle, Alexandra, Wolters, Barbara, Knop, Caroline, Lass, Nina, Welzel, Maik, Holterhus, Paul-Martin

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 383 KB

english, 2014

29

Management of disorders of sex development

Hiort, Olaf, Birnbaum, Wiebke, Marshall, Louise, Wünsch, Lutz, Werner, Ralf, Schröder, Tatjana, Döhnert, Ulla, Holterhus, Paul-Martin

Journal:

Nature Reviews Endocrinology (formerly Nature Clinical Practice Endocrinology & Metabolism)

Année:

2014

Langue:

english

Fichier:

PDF, 730 KB

english, 2014

30

Mosaicism due to a Somatic Mutation of the Androgen Receptor Gene Determines Phenotype in Androgen Insensitivity Syndrome 1

Holterhus, Paul-Martin, Brüggenwirth, Hennie T., Hiort, Olaf, Kleinkauf-Houcken, Annette, Kruse, Klaus, Sinnecker, Gernot H. G., Brinkmann, Albert O.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

1997

Langue:

english

Fichier:

PDF, 3.52 MB

english, 1997

31

17a-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene

Petri, Christina, Wudy, Stefan A., Riepe, Felix G., Holterhus, Paul-Martin, Siegel, Jens, Hartmann, Michaela F., Kulle, Alexandra E., Welzel, Maik, Grötzinger, Joachim, Schild, Ralf L., Heger, Sabine

Journal:

Hormone Research in Paediatrics

Année:

2014

Langue:

english

Fichier:

PDF, 506 KB

english, 2014

32

The Basis of Gender Assignment in Disorders of Somatosexual Differentiation

Hiort, Olaf, Thyen, Ute, Holterhus, Paul-Martin

Journal:

Hormone Research

Année:

2005

Langue:

english

Fichier:

PDF, 46 KB

english, 2005

33

Epidemiology and Initial Management of Ambiguous Genitalia at Birth in Germany

Thyen, Ute, Lanz, Kathrin, Holterhus, Paul-Martin, Hiort, Olaf

Journal:

Hormone Research

Année:

2006

Langue:

english

Fichier:

PDF, 199 KB

english, 2006

34

Congenital Adrenal Hyperplasia due to 11-Hydroxylase Deficiency – Insights from Two Novel CYP11B1 Mutations (p.M92X, p.R453Q)

Krone, Nils, Gr&ouml, tzinger, Joachim, Holterhus, Paul-Martin, Sippell, Wolfgang G., Schwarz, Hans-Peter, Riepe, Felix G.

Journal:

Hormone Research

Année:

2009

Langue:

english

Fichier:

PDF, 429 KB

english, 2009

35

The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development

Yüksel, Bilgin, Kulle, Alexandra E., Gürbüz, Fatih, Welzel, Maik, Kotan, Damla, Mengen, Eda, Holterhus, Paul-Martin, Topaloglu, Ali Kemal, Grötzinger, Joachim, Riepe, Felix G.

Journal:

Hormone Research in Paediatrics

Année:

2013

Langue:

english

Fichier:

PDF, 293 KB

english, 2013

36

Clinical, Endocrine, and Molecular Genetic Findings in Patients with 17β-Hydroxysteroid Dehydrogenase Deficiency

Twesten, Wiebke, Holterhus, Paul-Martin, Sippell, Wolfgang G., Morlot, Michel, Schumacher, Heinz, Schenk, Bernd, Hiort, Olaf

Journal:

Hormone Research

Année:

2000

Langue:

english

Fichier:

PDF, 836 KB

english, 2000

37

Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia

Barbaro, Michela, Bens, Susanne, Haake, Andrea, Peter, Michael, Brämswig, Jürgen, Holterhus, Paul-Martin, Lopez-Siguero, Juan Pedro, Menken, Udo, Mix, Monika, Sippell, Wolfgang G., Wedell, Anna, Riepe

Journal:

Hormone Research in Paediatrics

Année:

2012

Langue:

english

Fichier:

PDF, 489 KB

english, 2012

38

Implementation of a Liquid Chromatography Tandem Mass Spectrometry Assay for Eight Adrenal C-21 Steroids and Pediatric Reference Data

Kulle, Alexandra E., Welzel, Maik, Holterhus, Paul-Martin, Riepe, Felix G.

Journal:

Hormone Research in Paediatrics

Année:

2013

Langue:

english

Fichier:

PDF, 364 KB

english, 2013

39

46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene

Ellaithi, Mona, Werner, Ralf, Riepe, Felix G., Krone, Nils, Kulle, Alexandra E., Diab, Tayseer, Kamel, Alaa K., Arlt, Wiebke, Holterhus, Paul-Martin, Sabir, Omyma, Hiort, Olaf

Journal:

Sexual Development

Année:

2014

Langue:

english

Fichier:

PDF, 491 KB

english, 2014

40

PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

Linglart, Agnès, Fryssira, Helena, Hiort, Olaf, Holterhus, Paul-Martin, Perez de Nanclares, Guiomar, Argente, Jesús, Heinrichs, Claudine, Kuechler, Alma, Mantovani, Giovanna, Leheup, Bruno, Wicart, Ph

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 1.57 MB

english, 2012

41

The effect of hyperglycemia on neonatal immune responses in-vitro

Temming, Petra, Tröger, Birte, Thonnissen, Susanne, Holterhus, Paul-martin, Schultz, Christian, Härtel, Christoph

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Année:

2012

Langue:

english

Fichier:

PDF, 943 KB

english, 2012

42

The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants

Ruecker, Beate, Lang-Muritano, Mariarosaria, Spanaus, Katharina, Welzel, Maik, l''Allemand, Dagmar, Phan-Hug, Franziska, Katschnig, Claudia, Konrad, Daniel, Holterhus, Paul-Martin, Schoenle, Eugen J.

Journal:

Hormone Research in Paediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 88 KB

english, 2015

43

Significance of Mutations in the Androgen Receptor Gene in Males with Idiopathic Infertility 1

Hiort, Olaf, Holterhus, Paul-Martin, Horter, Thorsten, Schulze, Wolfgang, Kremke, Britta, Bals-Pratsch, Monika, Sinnecker, Gernot H. G., Kruse, Klaus

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2000

Langue:

english

Fichier:

PDF, 225 KB

english, 2000

44

Steroid Hormone Profiles in Prepubertal Obese Children Before and After Weight Loss

Reinehr, Thomas, Kulle, Alexandra, Wolters, Barbara, Lass, Nina, Welzel, Maik, Riepe, Felix, Holterhus, Paul-Martin

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 184 KB

english, 2013

45

A Unique Exonic Splicing Mutation in the Human Androgen Receptor Gene Indicates a Physiologic Relevance of Regular Androgen Receptor Transcript Variants 1

Hellwinkel, Olaf José-Carlos, Holterhus, Paul-Martin, Struve, Dagmar, Marschke, Christine, Homburg, Nicole, Hiort, Olaf

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2001

Langue:

english

Fichier:

PDF, 345 KB

english, 2001

46

Functional and Structural Consequences of a Novel Point Mutation in the CYP21A2 Gene Causing Congenital Adrenal Hyperplasia: Potential Relevance of Helix C for P450 Oxidoreductase-21-Hydroxylase Interaction

Riepe, Felix G., Hiort, Olaf, Grötzinger, Joachim, Sippell, Wolfgang G., Krone, Nils, Holterhus, Paul-Martin

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 304 KB

english, 2008

47

Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia

Welzel, Maik, Wüstemann, Nele, Ŝimić-Schleicher, Gunter, Dörr, Helmuth G., Schulze, Egbert, Shaikh, Guftar, Clayton, Peter, Grötzinger, Joachim, Holterhus, Paul-Martin, Riepe, Felix G.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 487 KB

english, 2008

48

Analyzing the Functional and Structural Consequences of Two Point Mutations (P94L and A368D) in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia Resulting from 11-Hydroxylase Deficiency

Krone, Nils, Grischuk, Yulia, Müller, Marina, Volk, Ruth Elisabeth, Grötzinger, Joachim, Holterhus, Paul-Martin, Sippell, Wolfgang G., Riepe, Felix G.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 555 KB

english, 2006

49

The A645D Mutation in the Hinge Region of the Human Androgen Receptor (AR) Gene Modulates AR Activity, Depending on the Context of the Polymorphic Glutamine and Glycine Repeats

Werner, Ralf, Holterhus, Paul-Martin, Binder, Gerhard, Schwarz, Hans-Peter, Morlot, Michel, Struve, Dagmar, Marschke, Christine, Hiort, Olaf

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 232 KB

english, 2006

50

Phenotypic Diversity and Testosterone-Induced Normalization of Mutant L712F Androgen Receptor Function in a Kindred with Androgen Insensitivity 1

Holterhus, Paul-Martin, Sinnecker, Gernot H. G., Hiort, Olaf

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2000

Langue:

english

Fichier:

PDF, 244 KB

english, 2000