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Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals

The journal of clinical endocrinology and metabolism, 2012-07, Vol.97 (7), p.E1294-E1306

2012

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Gonadotrophin stimulation for in vitro fertilization significantly alters the hormone milieu in follicular fluid: a comparative study between natural cycle IVF and conventional IVF

Human reproduction (Oxford), 2014-05, Vol.29 (5), p.1049-1057

2014

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Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cells

Analyst (London), 2017-01, Vol.142 (3), p.465-471

2017

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Phenotypic Homogeneity and Genotypic Variability in a Large Series of Congenital Isolated ACTH-Deficiency Patients with TPIT Gene Mutations

The journal of clinical endocrinology and metabolism, 2012-03, Vol.97 (3), p.E486-E495

2012

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Do centimetres matter? Self-reported versus estimated height measurements in parents

Acta Paediatrica, 2010-04, Vol.99 (4), p.569-574

2010

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Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management

Endocrine reviews, 2022-02, Vol.43 (1), p.91-159

2022

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High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes

Swiss medical weekly, 2010, Vol.140, p.w13091

2010

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Disorders of the Human Adrenal Cortex

1, 2008

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Neuropeptide Y modulates steroid production of human adrenal H295R cells through Y1 receptors

Molecular and cellular endocrinology, 2010-01, Vol.314 (1), p.101-109

2010

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Insulin-Like Growth Factor-I Treatment in Primary Growth Hormone Insensitivity: Effect of Recombinant Human IGF-I (rhIGF-I) and rhIGF-I/rhIGF-Binding Protein-3 Complex

Hormone research in paediatrics, 2010-01, Vol.73 (2), p.140-147

2010

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Insulin increases serum leptin concentrations in children and adolescents with newly diagnosed Type I diabetes mellitus with and without ketoacidosis

Diabetologia, 1999-09, Vol.42 (9), p.1067-1070

1999

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Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II)

European journal of endocrinology, 2001-10, Vol.145 (4), p.439-444

2001

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Cushing Syndrome Caused by Adrenocortical Tumors and Hyperplasias (Corticotropin- Independent Cushing Syndrome)

Disorders of the Human Adrenal Cortex, 2008, Vol.13, p.117-132

2008

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Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cellsElectronic supplementary information (ESI) available: Fibroblast spectral assignment table (Table S1). See DOI: 10.1039/c6an02195f

2017-01

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Steroidogenic Enzymes

Disorders of the Human Adrenal Cortex, 2008, Vol.13, p.1-18

2008

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Long-Term Outcome of Prenatal Treatment of Congenital Adrenal Hyperplasia

Disorders of the Human Adrenal Cortex, 2008, Vol.13, p.82-98

2008

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The External Genitalia Score (EGS): A European Multicenter Validation Study

The journal of clinical endocrinology and metabolism, 2020-03, Vol.105 (3), p.e222-e230

2020

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Anti-Müllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment

Human reproduction (Oxford), 2013-07, Vol.28 (7), p.1899-1907

2013

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Adrenal Androgens in Humans and Nonhuman Primates: Production, Zonation and Regulation

Disorders of the Human Adrenal Cortex, 2008, Vol.13, p.33-54

2008

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Fetal Programming of Adrenal Androgen Excess: Lessons from a Nonhuman Primate Model of Polycystic Ovary Syndrome

Disorders of the Human Adrenal Cortex, 2008, Vol.13, p.145-158

2008

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GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

Yearbook of Paediatric Endocrinology, 2018-09

2018

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Risk of Meningioma in European Patients Treated With Growth Hormone in Childhood: Results From the SAGhE Cohort

The journal of clinical endocrinology and metabolism, 2019-03, Vol.104 (3), p.658-664

2019

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Structural insights on TRPV5 gating by endogenous modulators

Nature communications, 2018-10, Vol.9 (1), p.4198-11, Article 4198

2018

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Development and function of the fetal adrenal

Yearbook of Paediatric Endocrinology, 2023-09

2023

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Disorders of Adrenal Development

Disorders of the Human Adrenal Cortex, 2008, Vol.13, p.19-32

2008

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Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals

Gonadotrophin stimulation for in vitro fertilization significantly alters the hormone milieu in follicular fluid: a comparative study between natural cycle IVF and conventional IVF

Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cells

Phenotypic Homogeneity and Genotypic Variability in a Large Series of Congenital Isolated ACTH-Deficiency Patients with TPIT Gene Mutations

Do centimetres matter? Self-reported versus estimated height measurements in parents

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management

High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes

Disorders of the Human Adrenal Cortex

Neuropeptide Y modulates steroid production of human adrenal H295R cells through Y1 receptors

Insulin-Like Growth Factor-I Treatment in Primary Growth Hormone Insensitivity: Effect of Recombinant Human IGF-I (rhIGF-I) and rhIGF-I/rhIGF-Binding Protein-3 Complex

Insulin increases serum leptin concentrations in children and adolescents with newly diagnosed Type I diabetes mellitus with and without ketoacidosis

Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II)

Cushing Syndrome Caused by Adrenocortical Tumors and Hyperplasias (Corticotropin- Independent Cushing Syndrome)

Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cellsElectronic supplementary information (ESI) available: Fibroblast spectral assignment table (Table S1). See DOI: 10.1039/c6an02195f

Steroidogenic Enzymes

Long-Term Outcome of Prenatal Treatment of Congenital Adrenal Hyperplasia

The External Genitalia Score (EGS): A European Multicenter Validation Study

Anti-Müllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment

Adrenal Androgens in Humans and Nonhuman Primates: Production, Zonation and Regulation

Fetal Programming of Adrenal Androgen Excess: Lessons from a Nonhuman Primate Model of Polycystic Ovary Syndrome

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

Risk of Meningioma in European Patients Treated With Growth Hormone in Childhood: Results From the SAGhE Cohort

Structural insights on TRPV5 gating by endogenous modulators

Development and function of the fetal adrenal

Disorders of Adrenal Development

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