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Clinical and molecular features of type 1 pseudohypoaldosteronism

Hormone research, 2009-01, Vol.72 (1), p.1-9

Riepe, Felix G

2009

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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

Hormone research in paediatrics, 2019-09, Vol.91 (5), p.336-345

2019

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Androgen receptor function links human sexual dimorphism to DNA methylation

PloS one, 2013-09, Vol.8 (9), p.e73288-e73288

2013

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In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans

PloS one, 2015-03, Vol.10 (3), p.e0120463

2015

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

Reviews in endocrine & metabolic disorders, 2007-12, Vol.8 (4), p.349-363

2007

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Frequency and characterization of DNA methylation defects in children born SGA

European journal of human genetics : EJHG, 2013-08, Vol.21 (8), p.838-843

2013

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CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

PloS one, 2011-09, Vol.6 (9), p.e25492

2011

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

Hormone research in paediatrics, 2013-01, Vol.79 (1), p.22-31

2013

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

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.610-616

2014

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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

The journal of clinical endocrinology and metabolism, 2006-12, Vol.91 (12), p.4976-4980

2006

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

European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.692-692

2020

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Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q)

Hormone research, 2009-01, Vol.72 (5), p.281-286

2009

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

Pediatric neurology, 2009-10, Vol.41 (4), p.301-304

2009

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Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency

European journal of endocrinology, 2014-05, Vol.170 (5), p.697-706

2014

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Adrenal gland: Congenital adrenal hyperplasia: new treatment guidelines

Nature reviews. Endocrinology, 2011-01, Vol.7 (1), p.6

Riepe, Felix G

2011

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

Dermato-endocrinology, 2012-01, Vol.4 (1), p.58-64

2012

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Congenital adrenal hyperplasia: new treatment guidelines

Nature reviews. Endocrinology, 2011, Vol.7 (1), p.6-8

Riepe, Felix G.

2011

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Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1

European journal of endocrinology, 2007-02, Vol.156 (2), p.249-256

2007

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Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency

Genes & development, 2003-03, Vol.17 (6), p.711-716

2003

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Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1

European journal of endocrinology, 2013-05, Vol.168 (5), p.707-715

2013

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Pseudohypoaldosteronism

Endocrine development, 2013, Vol.24, p.86-95

2013

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

The journal of clinical endocrinology and metabolism, 2009-08, Vol.94 (8), p.3058-3064

2009

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

Hormone research in paediatrics, 2012-01, Vol.77 (3), p.195-199

2012

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Management of congenital adrenal hyperplasia: results of the ESPE questionnaire

Hormone research, 2002-01, Vol.58 (4), p.196-205

2002

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

General and comparative endocrinology, 2012-02, Vol.175 (3), p.514-518

2012

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Clinical and molecular features of type 1 pseudohypoaldosteronism

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

Androgen receptor function links human sexual dimorphism to DNA methylation

In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans

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

Frequency and characterization of DNA methylation defects in children born SGA

CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

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

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

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

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

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q)

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

Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency

Adrenal gland: Congenital adrenal hyperplasia: new treatment guidelines

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

Congenital adrenal hyperplasia: new treatment guidelines

Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1

Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1

Pseudohypoaldosteronism

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

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

Management of congenital adrenal hyperplasia: results of the ESPE questionnaire

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

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