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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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Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature

Balkan journal of medical genetics, 2019-08, Vol.22 (1), p.81-88

2019

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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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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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Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life

Experimental and clinical endocrinology & diabetes, 2004-07, Vol.112 (7), p.343

2004

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Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Experimental and clinical endocrinology & diabetes, 2006-03, Vol.114 (3), p.111

2006

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Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Experimental and clinical endocrinology & diabetes, 2006-03, Vol.114 (3), p.105

2006

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Automated chromatographic system for the simultaneous measurement of plasma pregnenolone and 17-hydroxypregnenolone by radioimmunoassay

Journal of chromatography. B, Biomedical sciences and applications, 2001-11, Vol.763 (1), p.99-106

2001

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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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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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Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiency

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2003-03, Vol.785 (2), p.293-301

2003

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Rare Missense P450c17 (CYP17A1) Mutation in Exon 1 as a Cause of 46,XY Disorder of Sexual Development: Implications of Breast Tissue ‘Unresponsiveness' despite Adequate Estradiol Substitution

Sexual development, 2013-01, Vol.7 (4), p.212-215

2013

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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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Aldosterone synthase deficiency type II with hypospadias

Indian pediatrics, 2012-04, Vol.49 (4), p.318-320

2012

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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

Experimental and clinical endocrinology & diabetes, 2006-05, Vol.114 (5), p.227

2006

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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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Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation

The journal of clinical endocrinology and metabolism, 2001-09, Vol.86 (9), p.4353-4357

2001

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Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutation

Klinische Pädiatrie, 2008-09, Vol.220 (5), p.287

2008

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Serum cortisol and cortisone levels in newborns with congenital adrenal hyperplasia before the start of therapy

Journal of endocrinological investigation, 2005-05, Vol.28 (5), p.413

2005

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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

American journal of reproductive immunology (1989), 2004-02, Vol.51 (2), p.174-179

2004

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

Journal of immunological methods, 2002-08, Vol.266 (1), p.105-110

2002

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Übergewicht, Hirsutismus und tiefe Stimme bei einer Jugendlichen

Monatsschrift Kinderheilkunde, 2012-03, Vol.160 (3), p.211-214

2012

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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

American journal of reproductive immunology (1989), 2003-05, Vol.49 (5), p.255-260

2003

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Sekundäre Amenorrhö bei einer Jugendlichen

Monatsschrift Kinderheilkunde, 2011, Vol.159 (1), p.10-13

2011

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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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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

Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature

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

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

Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life

Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Automated chromatographic system for the simultaneous measurement of plasma pregnenolone and 17-hydroxypregnenolone by radioimmunoassay

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

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

Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiency

Rare Missense P450c17 (CYP17A1) Mutation in Exon 1 as a Cause of 46,XY Disorder of Sexual Development: Implications of Breast Tissue ‘Unresponsiveness' despite Adequate Estradiol Substitution

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

Aldosterone synthase deficiency type II with hypospadias

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

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

Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation

Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutation

Serum cortisol and cortisone levels in newborns with congenital adrenal hyperplasia before the start of therapy

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

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

Übergewicht, Hirsutismus und tiefe Stimme bei einer Jugendlichen

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

Sekundäre Amenorrhö bei einer Jugendlichen

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

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