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Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

The journal of clinical endocrinology and metabolism, 2016-11, Vol.101 (11), p.4468-4477

2016

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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

The journal of clinical endocrinology and metabolism, 2010-05, Vol.95 (5), p.2399-2409

2010

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The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene

The journal of clinical endocrinology and metabolism, 2016-11, Vol.101 (11), p.3959-3967

2016

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Comparison of continuous subcutaneous insulin infusion (CSII) and multiple daily injections (MDI) in paediatric Type 1 diabetes: a multicentre matched-pair cohort analysis over 3 years

Diabetic medicine, 2008-01, Vol.25 (1), p.80-85

2008

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Principles and clinical applications of liquid chromatography — tandem mass spectrometry for the determination of adrenal and gonadal steroid hormones

Journal of endocrinological investigation, 2011-10, Vol.34 (9), p.702-708

2011

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Intersexualität und Differences of Sex Development (DSD): Grundlagen, Diagnostik und Betreuungsansätze

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2013-12, Vol.56 (12), p.1686-1694

Holterhus, P.-M.

2013

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GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

European journal of endocrinology, 2018-10, Vol.179 (4), p.R197

2018

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

The journal of clinical endocrinology and metabolism, 2010-05, Vol.95 (5), p.2443-2450

2010

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Tissue-specific transcription profiles of sex steroid biosynthesis enzymes and the androgen receptor

Journal of molecular medicine (Berlin, Germany), 2006-08, Vol.84 (8), p.651-659

2006

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Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'

European journal of endocrinology, 2017-05, Vol.176 (5), p.P1

2017

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Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications

Experimental and clinical endocrinology & diabetes, 2009-02, Vol.117 (2), p.49

2009

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Testosterone Synthesis in Patients with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

Sexual development, 2012-01, Vol.6 (4), p.161-168

2012

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Significance of mutations in the androgen receptor gene in males with idiopathic infertility

The journal of clinical endocrinology and metabolism, 2000-08, Vol.85 (8), p.2810-2815

2000

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

European journal of endocrinology, 2005-02, Vol.152 (2), p.255

2005

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Anabolic steroids, testosterone-precursors and virilizing androgens induce distinct activation profiles of androgen responsive promoter constructs

The Journal of steroid biochemistry and molecular biology, 2002-11, Vol.82 (4), p.269-275

2002

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Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations

Journal of molecular medicine (Berlin, Germany), 2005-12, Vol.83 (12), p.1005-1013

2005

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The molecular basis of male sexual differentiation

European journal of endocrinology, 2000-02, Vol.142 (2), p.101

2000

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LC-MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygote CYP21A2 mutation carriers

European journal of endocrinology, 2015-10, Vol.173 (4), p.517

2015

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Intersex and differences of sex development: background, diagnostics, and concepts of care

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2013-12, Vol.56 (12), p.1686-1694

Holterhus, P-M

2013

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Androgen Receptor Mutations Are Associated with Altered Epigenomic Programming as Evidenced by HOXA5 Methylation

Sexual development, 2011-01, Vol.5 (2), p.70-76

2011

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Chronic recurrent multifocal osteomyelitis in children

The Pediatric infectious disease journal, 1999-11, Vol.18 (11), p.1008-1013

1999

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Vorzeitige und verzögerte Pubertät beim Mädchen

Gynäkologische Endokrinologie, 2013-02, Vol.11 (1), p.11-18

2013

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Prevailing therapeutic regimes and predictive factors for prandial insulin substitution in 26 687 children and adolescents with Type 1 diabetes in Germany and Austria

Diabetic medicine, 2007-12, Vol.24 (12), p.1478-1481

2007

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Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene

European journal of pediatrics, 1996-12, Vol.156 (1), p.7-14

1996

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Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome

The journal of clinical endocrinology and metabolism, 1997-11, Vol.82 (11), p.3584-3589

1997

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Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

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

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene

Comparison of continuous subcutaneous insulin infusion (CSII) and multiple daily injections (MDI) in paediatric Type 1 diabetes: a multicentre matched-pair cohort analysis over 3 years

Principles and clinical applications of liquid chromatography — tandem mass spectrometry for the determination of adrenal and gonadal steroid hormones

Intersexualität und Differences of Sex Development (DSD): Grundlagen, Diagnostik und Betreuungsansätze

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

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

Tissue-specific transcription profiles of sex steroid biosynthesis enzymes and the androgen receptor

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications

Testosterone Synthesis in Patients with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

Significance of mutations in the androgen receptor gene in males with idiopathic infertility

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

Anabolic steroids, testosterone-precursors and virilizing androgens induce distinct activation profiles of androgen responsive promoter constructs

Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations

The molecular basis of male sexual differentiation

LC-MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygote CYP21A2 mutation carriers

Intersex and differences of sex development: background, diagnostics, and concepts of care

Androgen Receptor Mutations Are Associated with Altered Epigenomic Programming as Evidenced by HOXA5 Methylation

Chronic recurrent multifocal osteomyelitis in children

Vorzeitige und verzögerte Pubertät beim Mädchen

Prevailing therapeutic regimes and predictive factors for prandial insulin substitution in 26 687 children and adolescents with Type 1 diabetes in Germany and Austria

Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene

Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome

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