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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

2014

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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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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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A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

European journal of medical genetics, 2011-09, Vol.54 (5), p.e501-e504

2011

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Diagnosis, Therapy and Follow-Up of Diabetes Mellitus in Children and Adolescents

Experimental and clinical endocrinology & diabetes, 2019-12, Vol.127 (S 01), p.S39

2019

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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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Exclusion of Serum- and Glucocorticoid-Induced Kinase 1 (SGK1) as a Candidate Gene for Genetically Heterogeneous Renal Pseudohypoaldosteronism Type I in Eight Families

American journal of nephrology, 2007-01, Vol.27 (2), p.164-169

2007

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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

2013

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Gender role behavior in children with XY karyotype and disorders of sex development

Hormones and behavior, 2007-03, Vol.51 (3), p.443-453

2007

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Growth Hormone Treatment for Short Stature in the USA, Germany and France: 15 Years of Surveillance in the Genetics and Neuroendocrinology of Short-Stature International Study (GeNeSIS)

Hormone research in paediatrics, 2018-01, Vol.90 (3), p.169-180

2018

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Hospital admission for diabetic ketoacidosis or severe hypoglycemia in 31,330 young patients with type 1 diabetes

European journal of endocrinology, 2015-09, Vol.173 (3), p.341

2015

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Immunohistochemistry and in situ hybridization of the androgen receptor in the developing human prostate

Anatomy and Embryology, 1998-03, Vol.197 (3), p.199-208

1998

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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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Isoenzyme type 1 of 5alpha-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5alpha-reductase type 2 deficient males

European journal of endocrinology, 2005-06, Vol.152 (6), p.875

2005

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Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry

European journal of pediatrics, 2016-05, Vol.175 (5), p.613-622

2016

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Management of disorders of sex development

Nature reviews. Endocrinology, 2014-09, Vol.10 (9), p.520

2014

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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

2024

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The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development

Hormone research in paediatrics, 2013-01, Vol.80 (3), p.163-169

2013

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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 PCBP1 gene encoding poly(rc) binding protein i is recurrently mutated in Burkitt lymphoma

Genes chromosomes & cancer, 2015-09, Vol.54 (9), p.555-564

2015

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PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

The journal of clinical endocrinology and metabolism, 2012-12, Vol.97 (12), p.E2328-E2338

2012

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Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms

Gene, 2012-10, Vol.507 (1), p.20-26

2012

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Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency

Hormone research in paediatrics, 2017-01, Vol.88 (6), p.408-417

2017

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Topical glucocorticoid application causing iatrogenic Cushing's syndrome followed by secondary adrenal insufficiency in infants: two case reports

Journal of medical case reports, 2022-12, Vol.16 (1), p.455-455, Article 455

2022

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

Chronic recurrent multifocal osteomyelitis in children

The clinical and molecular spectrum of androgen insensitivity syndromes

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

Diagnosis, Therapy and Follow-Up of Diabetes Mellitus in Children and Adolescents

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

Exclusion of Serum- and Glucocorticoid-Induced Kinase 1 (SGK1) as a Candidate Gene for Genetically Heterogeneous Renal Pseudohypoaldosteronism Type I in Eight Families

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

Gender role behavior in children with XY karyotype and disorders of sex development

Growth Hormone Treatment for Short Stature in the USA, Germany and France: 15 Years of Surveillance in the Genetics and Neuroendocrinology of Short-Stature International Study (GeNeSIS)

Hospital admission for diabetic ketoacidosis or severe hypoglycemia in 31,330 young patients with type 1 diabetes

Immunohistochemistry and in situ hybridization of the androgen receptor in the developing human prostate

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

Isoenzyme type 1 of 5alpha-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5alpha-reductase type 2 deficient males

Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry

Management of disorders of sex development

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

The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development

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 PCBP1 gene encoding poly(rc) binding protein i is recurrently mutated in Burkitt lymphoma

PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms

Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency

Topical glucocorticoid application causing iatrogenic Cushing's syndrome followed by secondary adrenal insufficiency in infants: two case reports

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

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