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F. Riepe · SciRah

Researcher profile · Semantic Scholar

F. Riepe

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F. Riepe — researcher profile on SciRah

h-index: 32
Works: 122
Citations: 3,329

Most-cited papers

A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age- and sex-specific reference data.
A. Kulle, F. Riepe, D. Melchior, O. Hiort +1 more
2010Journal of Clinical Endocrinology and Metabolism177 citations Open access
Semantic Scholar
Chédiak-Higashi syndrome
Nils Peters, Martin Dichgans, S. Surendran, Josep M. Argilés +174 more
2020Definitions128 citations Open access
Semantic Scholar
Clinical and Molecular Features of Type 1 Pseudohypoaldosteronism
F. Riepe
2009Hormone Research in Paediatrics123 citations Open access
Semantic Scholar
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
Sophie Vallette-Kasic, T. Brue, Anne-Marie Pulichino, M. Gueydan +32 more
2005Journal of Clinical Endocrinology and Metabolism118 citations Open access
Semantic Scholar
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.
O. Hiort, P. Holterhus, R. Werner, C. Marschke +5 more
2005Journal of Clinical Endocrinology and Metabolism108 citations
Semantic Scholar
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
F. Riepe, W. Sippell
2007Reviews in Endocrine & Metabolic Disorders100 citations
Semantic Scholar
Congenital sucrase-isomaltase deficiency
Nils Peters, Martin Dichgans, S. Surendran, Josep M. Argilés +174 more
2020Definitions77 citations Open access
Semantic Scholar
Steroid hormone profiles in prepubertal obese children before and after weight loss.
T. Reinehr, A. Kulle, B. Wolters, N. Lass +3 more
2013Journal of Clinical Endocrinology and Metabolism77 citations Open access
Semantic Scholar
Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative
R. Auchus, S. F. Witchel, Kelly R. Leight, J. Aisenberg +46 more
2010International Journal of Pediatric Endocrinology74 citations Open access
Semantic Scholar
Implementation of a Liquid Chromatography Tandem Mass Spectrometry Assay for Eight Adrenal C-21 Steroids and Pediatric Reference Data
A. Kulle, M. Welzel, P. Holterhus, F. Riepe
2013Hormone Research in Paediatrics64 citations
Semantic Scholar
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.
F. Riepe, Johannes Finkeldei, L. de Sanctis, S. Einaudi +8 more
2006Journal of Clinical Endocrinology and Metabolism63 citations
Semantic Scholar
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.
N. Krone, F. Riepe, Dorothea Götze, E. Korsch +6 more
2005Journal of Clinical Endocrinology and Metabolism61 citations Open access
Semantic Scholar
Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients
S. Riedl, F. Röhl, W. Bonfig, J. Brämswig +12 more
2019Endocrine Connections52 citations Open access
Semantic Scholar
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations
S. Menabò, S. Polat, L. Baldazzi, A. Kulle +5 more
2013European Journal of Human Genetics51 citations Open access
Semantic Scholar
Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.
W. Bonfig, F. Roehl, S. Riedl, H. Dörr +7 more
2016American Journal of Hypertension50 citations
Semantic Scholar
Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
N. Krone, F. Riepe, J. Grötzinger, C. Partsch +1 more
2005Journal of Clinical Endocrinology and Metabolism49 citations
Semantic Scholar
CHLAMYDIA INFECTION
N. Peters, M. Dichgans, S. Surendran, Josep M. Argilés +174 more
201845 citations
Semantic Scholar
Androgen Receptor Function Links Human Sexual Dimorphism to DNA Methylation
O. Ammerpohl, S. Bens, Mahesh Appari, R. Werner +11 more
2013PLoS ONE43 citations Open access
Semantic Scholar
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.
N. Krone, Y. Grischuk, Marina Müller, R. Volk +4 more
2006Journal of Clinical Endocrinology and Metabolism43 citations Open access
Semantic Scholar
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
F. Riepe, W. Ahrens, N. Krone, R. Fölster-Holst +4 more
2005European Journal of Endocrinology43 citations Open access
Semantic Scholar
Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome
Mahesh Appari, R. Werner, L. Wünsch, G. Cario +5 more
2009Journal of molecular medicine42 citations Open access
Semantic Scholar
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
V. Dhir, N. Reisch, C. Bleicken, J. Lebl +7 more
2009Journal of Clinical Endocrinology and Metabolism41 citations
Semantic Scholar
Principles and clinical applications of liquid chromatography — tandem mass spectrometry for the determination of adrenal and gonadal steroid hormones
A. Kulle, M. Welzel, P. Holterhus, F. Riepe
2011Journal of Endocrinological Investigation35 citations
Semantic Scholar
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.
Y. Grischuk, P. Rubtsov, F. Riepe, J. Grötzinger +8 more
2006Journal of Clinical Endocrinology and Metabolism34 citations Open access
Semantic Scholar
Neonatal Screening: Identification of Children with 11β-Hydroxylase Deficiency by Second-Tier Testing
N. Janzen, F. Riepe, M. Peter, S. Sander +7 more
2012Hormone Research in Paediatrics33 citations Open access
Semantic Scholar
Critical Points in the Management of Pseudohypoaldosteronism Type 1
T. Güran, S. Değirmenci, I. Bulut, A. Say +2 more
2011Journal of Clinical Research in Pediatric Endocrinology32 citations Open access
Semantic Scholar
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.
M. Welzel, Nele Wüstemann, G. Šimić-Schleicher, H. Dörr +6 more
2008Journal of Clinical Endocrinology and Metabolism31 citations
Semantic Scholar
Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature.
C. Partsch, F. Riepe, N. Krone, W. Sippell +1 more
2006Experimental and clinical endocrinology & diabetes30 citations
Semantic Scholar
Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.
S. Bens, A. Mohn, B. Yüksel, A. Kulle +7 more
2010Journal of Clinical Endocrinology and Metabolism29 citations
Semantic Scholar
Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome
P. Holterhus, U. Deppe, R. Werner, A. Richter-Unruh +8 more
2007BMC Genomics29 citations Open access
Semantic Scholar
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.
M. Welzel, L. Akın, A. Büscher, T. Güran +10 more
2013European Journal of Endocrinology28 citations Open access
Semantic Scholar
Characterization of NCI-H295R Cells as an In Vitro Model of Hyperaldosteronism
Urs D. Lichtenauer, Igor Shapiro, A. Osswald, S. Meurer +4 more
2012Hormone and Metabolic Research28 citations
Semantic Scholar
Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes
P. Holterhus, Jan-Hendrik Bebermeier, R. Werner, J. Demeter +7 more
2009BMC Genomics28 citations Open access
Semantic Scholar
Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.
F. Riepe, Stephan Tatzel, W. Sippell, Jurgen Pleiss +1 more
2005Endocrinology28 citations
Semantic Scholar
Testosterone Synthesis in Patients with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency
R. Werner, A. Kulle, I. Sommerfeld, F. Riepe +7 more
2012Sexual Development26 citations Open access
Semantic Scholar
Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
F. Riepe, N. Krone, S. N. Krüger, F. Sweep +5 more
2006Experimental and clinical endocrinology & diabetes26 citations
Semantic Scholar
LC-MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygote CYP21A2 mutation carriers.
A. Kulle, F. Riepe, Jürgen Hedderich, W. Sippell +3 more
2015European Journal of Endocrinology25 citations
Semantic Scholar
Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.
S. Polat, A. Kulle, Z. Karaca, I. Akkurt +5 more
2014European Journal of Endocrinology24 citations
Semantic Scholar
Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family.
I. Ben Charfeddine, F. Riepe, N. Kahloul, A. Kulle +8 more
2012General and Comparative Endocrinology24 citations
Semantic Scholar
Revealing a subclinical salt‐losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel
F. Riepe, M. V. van Bemmelen, F. Cachat, H. Plendl +5 more
2009Clinical Endocrinology24 citations
Semantic Scholar
Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita
N. Krone, F. Riepe, H. Dörr, M. Morlot +11 more
2005Human Mutation24 citations Open access
Semantic Scholar
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.
A. Balsamo, A. Cicognani, M. Gennari, W. Sippell +3 more
2007European Journal of Endocrinology22 citations Open access
Semantic Scholar
Crigler-Najjar syndrome
Nils Peters, Martin Dichgans, S. Surendran, Josep M. Argilés +174 more
2020Definitions21 citations Open access
Semantic Scholar
CYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency
Daw-Yang Hwang, C. Hung, F. Riepe, R. Auchus +6 more
2011PLoS ONE21 citations Open access
Semantic Scholar
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co‐expression system
C. Bleicken, L. Loidi, V. Dhir, Silvia Parajes +7 more
2009Human Mutation21 citations Open access
Semantic Scholar
Congenital Adrenal Hyperplasia due to 11-Hydroxylase Deficiency – Insights from Two Novel CYP11B1 Mutations (p.M92X, p.R453Q)
N. Krone, J. Grötzinger, P. Holterhus, W. Sippell +2 more
2009Hormone Research in Paediatrics21 citations
Semantic Scholar
A Case of 11β-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS
M. Peter, N. Janzen, S. Sander, E. Korsch +2 more
2008Hormone Research in Paediatrics21 citations
Semantic Scholar
No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.
M. Welzel, H. P. Schwarz, Jürgen Hedderich, H. Dörr +9 more
2010Journal of Clinical Endocrinology and Metabolism20 citations
Semantic Scholar
Chronic Idiopathic Intestinal Pseudo-obstruction
N. Peters, M. Dichgans, S. Surendran, Josep M. Argilés +174 more
201119 citations
Semantic Scholar
Serum Concentrations of Adrenal Steroids and Their Precursors as a Measure of Maturity of Adrenocortical Function in Very Premature Newborns
P. Nykänen, K. Heinonen, F. Riepe, W. Sippell +1 more
2010Hormone Research in Paediatrics19 citations
Semantic Scholar

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P. Holterhus×19
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P. Holterhus — researcher profile on SciRah
W. Sippell×14
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W. Sippell — researcher profile on SciRah
N. Krone×13
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N. Krone — researcher profile on SciRah
A. Kulle×12
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A. Kulle — researcher profile on SciRah

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J. Grötzinger — researcher profile on SciRah

Alexander A. C. Leung×9

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Alexander A. C. Leung — researcher profile on SciRah

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C. Partsch — researcher profile on SciRah

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R. Werner — researcher profile on SciRah

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M. Welzel — researcher profile on SciRah

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