Felix G Riepe: search on Z-Library

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1

Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation – A Case Report and Review of the Literature: Implications for the Pathomechanism

Nagel, Stella A., Hartmann, Michaela F., Riepe, Felix G., Wudy, Stefan A., Wabitsch, Martin

Journal:

Hormone Research in Paediatrics

Year:

2018

Language:

english

File:

PDF, 137 KB

english, 2018

2

Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system

Caroline Bleicken, Lourdes Loidi, Vivek Dhir, Silvia Parajes, Celsa Quinteiro, Fernando Dominguez, Joachim Grötzinger, Wolfgang G. Sippell, Felix G. Riepe, Wiebke Arlt, Nils Krone

Journal:

Year:

2009

Language:

english

File:

PDF, 658 KB

english, 2009

3

Long-Term Follow-Up of Spontaneous Development in a Boy with Familial Male Precocious Puberty

Partsch, Carl-Joachim, Krone, Nils, Riepe, Felix G., Gromoll, J&ouml, rg, Sippell, Wolfgang G.

Journal:

Hormone Research

Year:

2004

Language:

english

File:

PDF, 97 KB

english, 2004

4

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita

Nils Krone, Felix Günther Riepe, Helmuth-Günther Dörr, Michel Morlot, Karl-Heinz Rudorff, Stenvert L.S. Drop, Johannes Weigel, Mikulas Pura, Alexander Kreze, Mauro Boronat, Filippo de Luca, Anatoly Ti

Journal:

Year:

2005

Language:

english

File:

PDF, 95 KB

english, 2005

5

The Cellular Immune Response of Children is Specifically Decreased Against their Parents but not Vice versa, Independent of Pregnancy, age, or HLA or HY Antigens

Thomas Brune, Felix G. Riepe, Henk Garritsen, Rita Exeler, Frank Louwen, Erik Harms

Journal:

American Journal of Reproductive Immunology

Year:

2003

Language:

english

File:

PDF, 105 KB

english, 2003

6

The Increased Lysis of Fetal Cells in the Mother after Pregnancies Complicated by Pre-eclampsia or HELLP Syndrome is not the Result of a Specific Anti-fetal Cytotoxicity of the Mother

Thomas Brune, Tanja Hornung, Hans-Georg Koch, Felix G. Riepe, Frank Louwen

Journal:

American Journal of Reproductive Immunology

Year:

2004

Language:

english

File:

PDF, 107 KB

english, 2004

7

The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions

Nils Krone, Felix G. Riepe, Joachim Grötzinger, Carl-Joachim Partsch, Jürgen Brämswig, Wolfgang G. Sippell

Journal:

Journal of Molecular Medicine

Year:

2005

Language:

english

File:

PDF, 267 KB

english, 2005

8

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

Year:

2009

Language:

english

File:

PDF, 273 KB

english, 2009

9

Disproportionate stature but normal height in hypochondroplasia

Felix G. Riepe, Nils Krone, Wolfgang G. Sippell

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 228 KB

english, 2005

10

Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Felix G. Riepe, Wolfgang G. Sippell

Journal:

Reviews in Endocrine & Metabolic Disorders

Year:

2007

Language:

english

File:

PDF, 265 KB

english, 2007

11

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

Year:

2009

Language:

english

File:

PDF, 278 KB

english, 2009

12

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

Year:

2012

Language:

english

File:

PDF, 807 KB

english, 2012

13

Differentiation of single populations in a bidirectional mixed lymphocyte culture using X and Y chromosome-specific FiSH markers

Thomas Brune, Felix G Riepe, Kirsten Beier, Rita Exeler, Frank Louwen, Henk Garritsen

Journal:

Journal of Immunological Methods

Year:

2002

Language:

english

File:

PDF, 184 KB

english, 2002

14

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

15

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

16

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

Year:

2011

Language:

english

File:

PDF, 744 KB

english, 2011

17

Hashimoto Encephalopathy in a 15-Year-Old-Girl: EEG Findings and Follow-Up

Hiltrud Muhle, Andreas van Baalen, Felix G. Riepe, Axel Rohr, Ulrich Stephani

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 1.30 MB

english, 2009

18

Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms

Ilhem Ben Charfeddine, Felix G. Riepe, Eric Clauser, Abdelkarim Ayedi, Saloua Makni, Mohamed Tahar Sfar, Hassen Sboui, Najoua Kahloul, Hechmi Ben Hamouda, Slaheddine Chouchane, Sihem Trimech, Noura Zo

Journal:

Year:

2012

Language:

english

File:

PDF, 529 KB

english, 2012

19

Frequency and characterization of DNA methylation defects in children born SGA

Bens, Susanne, Haake, Andrea, Richter, Julia, Leohold, Judith, Kolarova, Julia, Vater, Inga, Riepe, Felix G, Buiting, Karin, Eggermann, Thomas, Gillessen-Kaesbach, Gabriele, Platzer, Konrad, Prawitt,

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 359 KB

english, 2013

20

Serum Concentrations of Adrenal Steroids and Their Precursors as a Measure of Maturity of Adrenocortical Function in Very Premature Newborns

Nykänen, Päivi, Heinonen, Kirsti, Riepe, Felix G., Sippell, Wolfgang G., Voutilainen, Raimo

Journal:

Hormone Research in Paediatrics

Year:

2010

Language:

english

File:

PDF, 167 KB

english, 2010

21

Adrenal gland: Congenital adrenal hyperplasia: new treatment guidelines

Riepe, Felix G.

Journal:

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

Year:

2011

Language:

english

File:

PDF, 173 KB

english, 2011

22

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

Year:

2014

Language:

english

File:

PDF, 1.30 MB

english, 2014

23

Four Novel Missense Mutations in the CYP21A2 Gene Detected in Russian Patients Suffering from the Classical Form of Congenital Adrenal Hyperplasia: Identification, Functional Characterization, and Structural Analysis

Grischuk, Yulia, Rubtsov, Petr, Riepe, Felix G., Grötzinger, Joachim, Beljelarskaia, Svetlana, Prassolov, Vladimir, Kalintchenko, Natalya, Semitcheva, Tatyana, Peterkova, Valentina, Tiulpakov, Anatoly

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 703 KB

english, 2006

24

Longitudinal Study of Plasma Pregnenolone and 17-Hydroxypregnenolone in Full-Term and Preterm Neonates at Birth and during the Early Neonatal Period

Riepe, Felix G., Mahler, Philip, Sippell, Wolfgang G., Partsch, Carl-Joachim

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 105 KB

english, 2002

25

Elucidating the Underlying Molecular Pathogenesis of NR3C2 Mutants Causing Autosomal Dominant Pseudohypoaldosteronism Type 1

Riepe, Felix G., Finkeldei, Johannes, de Sanctis, Luisa, Einaudi, Silvia, Testa, Alberto, Karges, Beate, Peter, Michael, Viemann, Matthias, Grötzinger, Joachim, Sippell, Wolfgang G., Fejes-Toth, Geza,

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 697 KB

english, 2006

26

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

Year:

2014

Language:

english

File:

PDF, 506 KB

english, 2014

27

Steroid 17α-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene

Dhir, Vivek, Reisch, Nicole, Bleicken, Caroline M., Lebl, Jan, Kamrath, Clemens, Schwarz, Hans-Peter, Grötzinger, Joachim, Sippell, Wolfgang G., Riepe, Felix G., Arlt, Wiebke, Krone, Nils

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2009

Language:

english

File:

PDF, 214 KB

english, 2009

28

Clinical and Molecular Features of Type 1 Pseudohypoaldosteronism

Riepe, Felix G.

Journal:

Hormone Research

Year:

2009

Language:

english

File:

PDF, 361 KB

english, 2009

29

Management of Congenital Adrenal Hyperplasia: Results of the ESPE Questionnaire

Riepe, Felix G., Krone, Nils, Viemann, Matthias, Partsch, Carl-Joachim, Sippell, Wolfgang G.

Journal:

Hormone Research

Year:

2002

Language:

english

File:

PDF, 108 KB

english, 2002

30

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

Year:

2009

Language:

english

File:

PDF, 429 KB

english, 2009

31

Neonatal Screening: Identification of Children with 11ß-Hydroxylase Deficiency by Second-Tier Testing

Janzen, Nils, Riepe, Felix G., Peter, Michael, Sander, Stefanie, Steuerwald, Ulrike, Korsch, Eckhard, Krull, Friedrich, Müller, Hermann L., Heger, Sabine, Brack, Christoph, Sander, Johannes

Journal:

Hormone Research in Paediatrics

Year:

2012

Language:

english

File:

PDF, 128 KB

english, 2012

32

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

Year:

2013

Language:

english

File:

PDF, 293 KB

english, 2013

33

Treatment of Pubertal Gynecomastia with the Specific Aromatase Inhibitor Anastrozole

Riepe, Felix G., Baus, Inka, Wiest, Stephanie, Krone, Nils, Sippell, Wolfgang G., Partsch, Carl-Joachim

Journal:

Hormone Research

Year:

2004

Language:

english

File:

PDF, 96 KB

english, 2004

34

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

Year:

2013

Language:

english

File:

PDF, 364 KB

english, 2013

35

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

Year:

2014

Language:

english

File:

PDF, 491 KB

english, 2014

36

Critical Points in the Management of Pseudohypoaldosteronism Type 1 - Case Report

Güran, Tülay, Değirmenci, Serpil, Bulut, İpek K, Say, Aysu, Riepe, Felix G., Güran, Ömer

Journal:

Journal of Clinical Research in Pediatric Endocrinology

Year:

2011

Language:

english

File:

PDF, 65 KB

english, 2011

37

Adrenal and Ovarian Phenotype of a Tissue-Specific Urocortin 2–Overexpressing Mouse Model

Spyroglou, Ariadni, Riester, Anna, Mueller-Peltzer, Katharina, Lu, Ailing, Rohde, Juliane, Hantel, Constanze, Kuehne, Claudia, Kulle, Alexandra, Riepe, Felix, Deussing, Jan M., Beuschlein, Felix

Journal:

Year:

2015

Language:

english

File:

PDF, 1.84 MB

english, 2015

38

Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene

Krone, Nils, Riepe, Felix G., Götze, Dorothea, Korsch, Eckhard, Rister, Manfred, Commentz, Jens, Partsch, Carl-Joachim, Grötzinger, Joachim, Peter, Michael, Sippell, Wolfgang G.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2005

Language:

english

File:

PDF, 630 KB

english, 2005

39

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

Year:

2013

Language:

english

File:

PDF, 184 KB

english, 2013

40

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

Year:

2008

Language:

english

File:

PDF, 304 KB

english, 2008

41

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

Year:

2008

Language:

english

File:

PDF, 487 KB

english, 2008

42

Longitudinal Imaging Reveals Pituitary Enlargement Preceding Hypoplasia in Two Brothers with Combined Pituitary Hormone Deficiency Attributable to PROP1 Mutation

Riepe, Felix G., Partsch, Carl-Joachim, Blankenstein, Oliver, Mönig, Heiner, Pfäffle, Roland W., Sippell, Wolfgang G.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2001

Language:

english

File:

PDF, 405 KB

english, 2001

43

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

Year:

2006

Language:

english

File:

PDF, 555 KB

english, 2006

44

Functional Characterization of Two Novel Point Mutations in the CYP21 Gene Causing Simple Virilizing Forms of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Krone, Nils, Riepe, Felix G., Grötzinger, Joachim, Partsch, Carl-Joachim, Sippell, Wolfgang G.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2005

Language:

english

File:

PDF, 865 KB

english, 2005

45

Molecular pathogenesis of renal pseudohypoaldosteronism type 1

Journal:

Expert Review of Endocrinology & Metabolism

Year:

2007

Language:

english

File:

PDF, 532 KB

english, 2007

46

Autosomal-Dominant Pseudohypoaldosteronism Type 1 in a Turkish Family Is Associated with a Novel Nonsense Mutation in the Human Mineralocorticoid Receptor Gene

Riepe, Felix G., Krone, Nils, Morlot, Michel, Peter, Michael, Sippell, Wolfgang G., Partsch, Carl-Joachim

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2004

Language:

english

File:

PDF, 111 KB

english, 2004

47

Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene

Bens, Susanne, Mohn, Angelika, Yüksel, Bilgin, Kulle, Alexandra E., Michalek, Matthias, Chiarelli, Franco, Nuri Özbek, Mehmet, Leuschner, Ivo, Grötzinger, Joachim, Holterhus, Paul-Martin, Riepe, Felix

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 396 KB

english, 2010

48

Age and skin site related differences in steroid metabolism in male skin point to a key role of sebocytes in cutaneous hormone metabolism

Haag, Markus, Hamann, Tina, Kulle, Alexandra E., Riepe, Felix G., Blatt, Thomas, Wenck, Horst, Holterhus, Paul-Martin, Peirano, Reto Ivo

Journal:

Dermato-Endocrinology

Year:

2012

Language:

english

File:

PDF, 1.71 MB

english, 2012

49

Recurrence of the R947X Mutation in Unrelated Families with Autosomal Dominant Pseudohypoaldosteronism Type 1: Evidence for a Mutational Hot Spot in the Mineralocorticoid Receptor Gene

Fernandes-Rosa, Fabio L., de Castro, Margaret, Latronico, Ana Claudia, Sippell, Wolfgang G., Riepe, Felix G., Antonini, Sonir R.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2006

Language:

english

File:

PDF, 202 KB

english, 2006

50

Homozygous Disruption of P450 Side-Chain Cleavage ( CYP11A1 ) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure

Hiort, Olaf, Holterhus, Paul-Martin, Werner, Ralf, Marschke, Christine, Hoppe, Ute, Partsch, Carl-Joachim, Riepe, Felix G., Achermann, John C., Struve, Dagmar

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2005

Language:

english

File:

PDF, 133 KB

english, 2005

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