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1

Handlungsempfehlung nach der S1-LeitliniePubertas tarda und Hypogonadismus

PD Dr. A. Richter-Unruh

Journal:

Monatsschrift Kinderheilkunde

Year:

2012

Language:

german

File:

PDF, 478 KB

german, 2012

2

Handlungsempfehlung nach der LeitliniePubertas praecox

Prof. Dr. K. Mohnike, A. Richter-Unruh

Journal:

Monatsschrift Kinderheilkunde

Year:

2013

Language:

german

File:

PDF, 489 KB

german, 2013

3

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

Year:

2018

Language:

english

File:

PDF, 377 KB

english, 2018

4

Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene

A. Richter-Unruh, J. W. M. Martens, M. Verhoef-Post, H. T. Wessels, W. A. Kors, G. H. G. Sinnecker, A. Boehmer, S. L. S. Drop, S. P. A. Toledo, H. G. Brunner, A. P. N. Themmen

Journal:

Clinical Endocrinology

Year:

2002

Language:

english

File:

PDF, 686 KB

english, 2002

5

Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment

Annette Richter-Unruh, Sabine Knauer-Fischer, Stefan Kaspers, Beate Albrecht, Gabriele Gillessen-Kaesbach, BertholdP. Hauffa

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 187 KB

english, 2004

6

Pubertas praecox und Pubertas tarda bei Mädchen

A. Richter-Unruh, M. Morlot, D. Kunze, R.P. Willig

Journal:

Gynäkologische Endokrinologie

Year:

2007

Language:

german

File:

PDF, 764 KB

german, 2007

7

Venous sampling can be crucial in identifying the testicular origin of idiopathic male luteinising hormone-independent sexual precocity

Richter-Unruh, Annette, Jorch, Norbert, Wessels, Hendrika, Weber, Ernst, Hauffa, Berthold

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 363 KB

english, 2002

8

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:

Year:

2009

Language:

english

File:

PDF, 537 KB

english, 2009

9

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:

Year:

2007

Language:

english

File:

PDF, 678 KB

english, 2007

10

A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family

Mithat Bahceci, Ahmet Resit Ersay, Alpaslan Tuzcu, Olaf Hiort, Annette Richter-Unruh, Deniz Gokalp

Journal:

Year:

2005

Language:

english

File:

PDF, 175 KB

english, 2005

11

Östradiol und Testosteron bei erwachsenen gonadektomierten 46,XY-Patientinnen

W. Birnbaum, L. Marshall, B. Köhler, M. Bals-Pratsch, A. Richter-Unruh, S. Kropf, Prof. Dr. O. Hiort

Journal:

Gynäkologische Endokrinologie

Year:

2012

Language:

german

File:

PDF, 291 KB

german, 2012

12

Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II

Kossack, Nina, Troppmann, Britta, Richter-Unruh, Annette, Kleinau, Gunnar, Gromoll, Jörg

Journal:

Molecular and Cellular Endocrinology

Year:

2013

Language:

english

File:

PDF, 977 KB

english, 2013

13

Congenital Primary Hypothyroidism in a Turkish Family Caused by a Homozygous Nonsense Mutation (R609X) in the Thyrotropin Receptor Gene

Richter-Unruh, Annette, Hauffa, Berthold P., Pfarr, Nicole, Pohlenz, Joachim

Journal:

Year:

2004

Language:

english

File:

PDF, 83 KB

english, 2004

14

Male LH-Independent Sexual Precocity in a 3.5-Year-Old Boy Caused by a Somatic Activating Mutation of the LH Receptor in a Leydig Cell Tumor

Richter-Unruh, A., Wessels, H. T., Menken, U., Bergmann, M., Schmittmann-Ohters, K., Schaper, J., Tappeser, S., Hauffa, B. P.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 375 KB

english, 2002

15

Leydig Cell Hypoplasia: Absent Luteinizing Hormone Receptor Cell Surface Expression Caused by a Novel Homozygous Mutation in the Extracellular Domain

Richter-Unruh, A., Verhoef-Post, M., Malak, S., Homoki, J., Hauffa, B. P., Themmen, A. P. N.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2004

Language:

english

File:

PDF, 498 KB

english, 2004

16

Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis

Richter-Unruh, A, Korsch, E, Hiort, O, Holterhus, P M, Themmen, A P, Wudy, S A

Journal:

European Journal of Endocrinology

Year:

2005

Language:

english

File:

PDF, 121 KB

english, 2005

17

Mutation Analysis of the LH Receptor Gene in Leydig Cell Adenoma and Hyperplasia and Functional and Biochemical Studies of Activating Mutations of the LH Receptor Gene

Boot, Annemieke M., Lumbroso, Serge, Verhoef-Post, Miriam, Richter-Unruh, Annette, Looijenga, Leendert H. J., Funaro, Ada, Beishuizen, Auke, van Marle, André, Drop, Stenvert L. S., Themmen, Axel P. N.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 1.08 MB

english, 2011

18

Clinical and Novel Molecular Findings in a 6.8-Year-Old Turkish Boy with Triple A Syndrome

Schmittmann-Ohters, Kerstin, Huebner, Angela, Richter-Unruh, Annette, Hauffa, Berthold P.

Journal:

Hormone Research

Year:

2001

Language:

english

File:

PDF, 342 KB

english, 2001

19

Sexual Pseudo-Precocity Caused by a Somatic Activating Mutation of the LH Receptor Preceding True Sexual Precocity

Kiepe, Daniela, Richter-Unruh, Annette, Autschbach, Frank, Kessler, Markus, Schenk, Jens Peter, Bettendorf, Markus

Journal:

Hormone Research

Year:

2008

Language:

english

File:

PDF, 326 KB

english, 2008

20

Increase of serum leptin after short-term pulsatile GnRH administration in children with delayed puberty

Grasemann, C, Wessels, H., Knauer-Fischer, S, Richter-Unruh, A, Hauffa, B.

Journal:

European Journal of Endocrinology

Year:

2004

Language:

english

File:

PDF, 111 KB

english, 2004

21

Mutations in a Novel, Cryptic Exon of the Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Cause Male Pseudohermaphroditism

Kossack, Nina, Simoni, Manuela, Richter-Unruh, Annette, Themmen, Axel P. N., Gromoll, Jörg, Beck-Peccoz, Paolo

Journal:

Year:

2008

Language:

english

File:

PDF, 476 KB

english, 2008

22

Hypothesis: Persistently Elevated hCG Causes Gestational Ovarian Overstimulation Associated With Prolonged Postpartum Hyperandrogenism in Mothers of Aromatase-Deficient Babies

Riedl, Stefan, Springer, Alexander, Häusler, Gabriele, Price, Glynis, Richter-Unruh, Annette, Stener-Victorin, Elisabet, Wudy, Stefan A.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2013

Language:

english

File:

PDF, 221 KB

english, 2013

23

Homoarginine (hArg) and asymmetric dimethylarginine (ADMA) in short stature children without and with growth hormone deficiency: hArg and ADMA are involved differently in growth in the childhood

Langen, Jennifer, Kayacelebi, Arslan Arinc, Beckmann, Bibiana, Weigt-Usinger, Katharina, Carmann, Christina, Hörster, Irina, Lilienthal, Eggert, Richter-Unruh, Annette, Tsikas, Dimitrios, Lücke, Thoma

Journal:

Year:

2015

Language:

english

File:

PDF, 507 KB

english, 2015

24

Aromatase Deficiency: Rare Cause of Virilization

Ludwikowski, Barbara, Heger, Sabine, Datz, Nicolin, Richter-Unruh, Annette, González, Ricardo

Journal:

European Journal of Pediatric Surgery

Year:

2012

Language:

english

File:

PDF, 166 KB

english, 2012

25

Clinical Characteristics of Type 2 Diabetes Mellitus in Overweight European Caucasian Adolescents

Reinehr, T., Andler, W., Kapellen, T., Kiess, W., Richter-Unruh, A., Schönau, E., Seewi, O., Heinze, E., Wabitsch, M.

Journal:

Experimental and Clinical Endocrinology & Diabetes

Year:

2005

Language:

english

File:

PDF, 66 KB

english, 2005

26

No Correlation between Androgen Receptor CAG and GGN Repeat Length and the Degree of Genital Virilization in Females with 21-Hydroxylase Deficiency

Welzel, M., Schwarz, H.-P., Hedderich, J., Dörr, H. G., Binder, G., Brämswig, J. H., Krude, H., Richter-Unruh, A., Niedziela, M., Gromoll, J., Krone, N., Riepe, F. G., Holterhus, P.-M.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 240 KB

english, 2010

27

Hormonelle Behandlung bei verschiedenen Störungen der Geschlechtsentwicklung (DSD)

Richter-Unruh, A., Engel, K.

Journal:

Zeitschrift für Sexualforschung

Year:

2007

Language:

german

File:

PDF, 49 KB

german, 2007

28

Mutant Luteinizing Hormone Receptors in a Compound Heterozygous Patient with Complete Leydig Cell Hypoplasia: Abnormal Processing Causes Signaling Deficiency

Martens, J. W. M., Lumbroso, S., Verhoef-Post, M., Georget, V., Richter-Unruh, A., Szarras-Czapnik, M., Romer, T. E., Brunner, H. G., Themmen, A. P. N., Sultan, C.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 309 KB

english, 2002

29

Mutation Analysis of FOXF2 in Patients with Disorders of Sex Development (DSD) in Combination with Cleft Palate

Jochumsen, U., Werner, R., Miura, N., Richter-Unruh, A., Hiort, O., Holterhus, P.M.

Journal:

Sexual Development

Year:

2008

Language:

english

File:

PDF, 206 KB

english, 2008

30

Altered Transcription Profiles of Key-Enzymes of Androgen Biosynthesis in Genital Skin Fibroblasts from Patients with 46,XY Disorders of Sex Development (DSD)

Hoppe, U., W&uuml, nsch, L., Holterhus, P.-M., Jocham, D., Richter-Unruh, A., Hiort, O.

Journal:

Sexual Development

Year:

2007

Language:

english

File:

PDF, 292 KB

english, 2007

31

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

Werner, Ralf, M�nig, Isabel, August, Julia, Freiberg, Clemens, L�nstedt, Ralf, Reiz, Benedikt, W�nsch, Lutz, Holterhus, Paul-Martin, Kulle, Alexandra, D�hnert, Ulla, Wudy, Stefan A., Richter-Unruh, An

Journal:

Sexual Development

Year:

2015

Language:

english

File:

PDF, 387 KB

english, 2015

32

Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation

Knauer-Fischer, Sabine A., Richter-Unruh, Annette, Albrecht, Beate, Gillessen-Kaesbach, Gabriele, Hauffa, Berthold P.

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 180 KB

english, 2004

33

Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose

Bonfig, Walter, Roehl, Friedhelm, Riedl, Stefan, Brämswig, Jürgen, Richter-Unruh, Annette, Fricke-Otto, Susanne, Hübner, Angela, Bettendorf, Markus, Schönau, Eckhard, Dörr, Helmut, Holl, Reinhard W.,

Journal:

Hormone Research in Paediatrics

Year:

2017

Language:

english

File:

PDF, 77 KB

english, 2017

34

Gonadal Function in Adult Male Patients with Congenital Adrenal Hyperplasia

Engels, Manon, Gehrmann, Katharina, Falhammar, Henrik, Webb, Emma A, Nordenstrom, Anna, Sweep, Fred, Span, Paul N, van Herwaarden, Antonius Eduard, Rohayem, Julia, Richter-Unruh, Annette, Bouvattier,

Journal:

European Journal of Endocrinology

Year:

2018

Language:

english

File:

PDF, 679 KB

english, 2018

35

Wachstum bei Störungen und Normvarianten der Pubertät; Growth in disorders and normal variants of puberty;

Binder, G., Bettendorf, M., Dörr, H.-G., Hauffa, B. P., Reinehr, T., Richter-Unruh, A., Rohrer, T. R., Wölfle, J.

Journal:

Monatsschrift Kinderheilkunde

Year:

2017

Language:

german

File:

PDF, 219 KB

german, 2017

36

Variations of sex development First German interdisciplinary Consensus Paper

Krege, S., Eckoldt, F., Richter-Unruh, A., Köhler, B., Leuschner, I., Menzel, Hans-Joachim, Moss, A., Schweizer, K., Stein, R., Werner-Rosen, K., Wieacker, P., Wiesemann, C., Wünsch, L., Richter-Appel

Journal:

Journal of Pediatric Urology

Year:

2018

Language:

english

File:

PDF, 294 KB

english, 2018

37

Pubertätsstörungen

Richter-Unruh, Annette

Journal:

Pädiatrie up2date

Year:

2016

Language:

german

File:

PDF, 1.03 MB

german, 2016

38

Establishment of Clinical and Lab Algorithms for the Identification of Carriers of Mutations in CYP21A2 â A Study of 365 Children and Adolescents

Meinel, J., Haverkamp, T., WÃ¼nsche, F., Richter-Unruh, A.

Journal:

Experimental and Clinical Endocrinology & Diabetes

Year:

2020

File:

PDF, 577 KB

2020