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Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)

The journal of clinical endocrinology and metabolism, 2018-12, Vol.103 (12), p.4617-4627

2018

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Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

Clinical endocrinology (Oxford), 2022-02, Vol.96 (2), p.165-174

2022

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Birth Weight in Different Etiologies of Disorders of Sex Development

The journal of clinical endocrinology and metabolism, 2017-03, Vol.102 (3), p.1044-1050

2017

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Stress-coping and cortisol analysis in patients with non-syndromic cleft lip and palate: an explorative study

PloS one, 2012-07, Vol.7 (7), p.e41015-e41015

2012

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New liquid chromatography tandem mass spectrometry reference data for estradiol show mini-puberty in both sexes and typical pre-pubertal and pubertal patterns

European journal of endocrinology, 2024-05, Vol.190 (5), p.401-408

2024

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A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

American journal of human genetics, 2019-05, Vol.104 (5), p.985-989

2019

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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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Epidemiology and initial management of ambiguous genitalia at birth in Germany

Hormone research, 2006-01, Vol.66 (4), p.195-203

2006

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Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel

Clinical endocrinology (Oxford), 2009-02, Vol.70 (2), p.252-258

2009

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Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency

Hormone research in paediatrics, 2018-01, Vol.90 (2), p.138-144

2018

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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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The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants

Hormone research in paediatrics, 2015-01, Vol.84 (1), p.43-48

2015

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Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome

Pediatric research, 1999-12, Vol.46 (6), p.684-690

1999

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The effect of hyperglycemia on neonatal immune responses in-vitro

The journal of maternal-fetal & neonatal medicine, 2012-01, Vol.25 (1), p.94-98

2012

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17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene

Hormone research in paediatrics, 2014, Vol.81 (5), p.350-355

2014

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Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity

The journal of clinical endocrinology and metabolism, 2000-09, Vol.85 (9), p.3245-3250

2000

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The basis of gender assignment in disorders of somatosexual differentiation

Hormone research, 2005-01, Vol.64 Suppl 2 (Suppl. 2), p.18-22

2005

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Deciding on gender in children with intersex conditions: considerations and controversies

Treatments in endocrinology, 2005, Vol.4 (1), p.1-8

2005

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Determination of 17OHPreg and DHEAS by LC-MS/MS: Impact of Age, Sex, Pubertal Stage, and BMI on the Δ5 Steroid Pathway

The journal of clinical endocrinology and metabolism, 2017-01, Vol.102 (1), p.232-241

2017

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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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The clinical and molecular spectrum of androgen insensitivity syndromes

American journal of medical genetics, 1996-05, Vol.63 (1), p.218-222

1996

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

The journal of clinical endocrinology and metabolism, 2005-01, Vol.90 (1), p.538-541

2005

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Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia

The journal of clinical endocrinology and metabolism, 2008-04, Vol.93 (4), p.1418-1425

2008

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Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)

Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

Birth Weight in Different Etiologies of Disorders of Sex Development

Stress-coping and cortisol analysis in patients with non-syndromic cleft lip and palate: an explorative study

New liquid chromatography tandem mass spectrometry reference data for estradiol show mini-puberty in both sexes and typical pre-pubertal and pubertal patterns

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

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

Epidemiology and initial management of ambiguous genitalia at birth in Germany

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel

Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency

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

Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal

The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants

Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome

The effect of hyperglycemia on neonatal immune responses in-vitro

17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene

Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity

The basis of gender assignment in disorders of somatosexual differentiation

Deciding on gender in children with intersex conditions: considerations and controversies

Determination of 17OHPreg and DHEAS by LC-MS/MS: Impact of Age, Sex, Pubertal Stage, and BMI on the Δ5 Steroid Pathway

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

The clinical and molecular spectrum of androgen insensitivity syndromes

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

Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia

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