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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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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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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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Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene

The journal of clinical endocrinology and metabolism, 2005-06, Vol.90 (6), p.3724-3730

2005

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Therapie mit rekombinantem Wachstumshormon bei Patientin mit Diabetes mellitus Typ 3 und SGA-Kleinwuchs induziert Dawnphänomen

Diabetologie und Stoffwechsel, 2010, Vol.5 (S 01)

2010

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Functional Characterization of Two Novel Point Mutations in the CYP21 Gene Causing Simple Virilizing Forms of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

The journal of clinical endocrinology and metabolism, 2005-01, Vol.90 (1), p.445-454

2005

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Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia

Hormone research in paediatrics, 2012-01, Vol.77 (2), p.100-107

2012

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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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Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene

European journal of endocrinology, 2005-04, Vol.152 (4), p.515-519

2005

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Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice

Endocrinology (Philadelphia), 2005-06, Vol.146 (6), p.2563

2005

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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.343-355

2004

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Autosomal-Dominant Pseudohypoaldosteronism Type 1 in a Turkish Family Is Associated with a Novel Nonsense Mutation in the Human Mineralocorticoid Receptor Gene

The journal of clinical endocrinology and metabolism, 2004-05, Vol.89 (5), p.2150-2152

2004

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Identification of a Novel Mutation in the Human Mineralocorticoid Receptor Gene in a German Family with Autosomal-Dominant Pseudohypoaldosteronism Type 1: Further Evidence for Marked Interindividual Clinical Heterogeneity

The journal of clinical endocrinology and metabolism, 2003-04, Vol.88 (4), p.1683-1686

2003

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Glukokinase-Gen-Sequenzveränderung c.821 A>T in Exon 7 bei zwei Brüdern mit Verdacht auf MODY II

Diabetologie und Stoffwechsel, 2007, Vol.2 (S 1)

2007

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Treatment of pubertal gynecomastia with the specific aromatase inhibitor anastrozole

Hormone research, 2004-01, Vol.62 (3), p.113-118

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.111-117

2006

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Management of congenital adrenal hyperplasia: results of the ESPE questionnaire

Hormone research, 2002-01, Vol.58 (4), p.196-205

2002

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The residue E351 is essential for the activity of human 21-hydroxylase : evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions

Journal of molecular medicine (Berlin, Germany), 2005-07, Vol.83 (7), p.561-568

2005

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Longitudinal Study of Plasma Pregnenolone and 17-Hydroxypregnenolone in Full-Term and Preterm Neonates at Birth and during the Early Neonatal Period

The journal of clinical endocrinology and metabolism, 2002-09, Vol.87 (9), p.4301-4306

2002

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Disproportionate stature but normal height in hypochondroplasia

European journal of pediatrics, 2005-06, Vol.164 (6), p.397-399

2005

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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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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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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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Genetic Heterogeneity in Autosomal Dominant Pseudohypoaldosteronism Type I: Exclusion of Claudin-8 as a Candidate Gene

American journal of nephrology, 2004-09, Vol.24 (5), p.483-487

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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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

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

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

Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene

Therapie mit rekombinantem Wachstumshormon bei Patientin mit Diabetes mellitus Typ 3 und SGA-Kleinwuchs induziert Dawnphänomen

Functional Characterization of Two Novel Point Mutations in the CYP21 Gene Causing Simple Virilizing Forms of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia

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

Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene

Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice

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

Autosomal-Dominant Pseudohypoaldosteronism Type 1 in a Turkish Family Is Associated with a Novel Nonsense Mutation in the Human Mineralocorticoid Receptor Gene

Identification of a Novel Mutation in the Human Mineralocorticoid Receptor Gene in a German Family with Autosomal-Dominant Pseudohypoaldosteronism Type 1: Further Evidence for Marked Interindividual Clinical Heterogeneity

Glukokinase-Gen-Sequenzveränderung c.821 A>T in Exon 7 bei zwei Brüdern mit Verdacht auf MODY II

Treatment of pubertal gynecomastia with the specific aromatase inhibitor anastrozole

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

Management of congenital adrenal hyperplasia: results of the ESPE questionnaire

The residue E351 is essential for the activity of human 21-hydroxylase : evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions

Longitudinal Study of Plasma Pregnenolone and 17-Hydroxypregnenolone in Full-Term and Preterm Neonates at Birth and during the Early Neonatal Period

Disproportionate stature but normal height in hypochondroplasia

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

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

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

Genetic Heterogeneity in Autosomal Dominant Pseudohypoaldosteronism Type I: Exclusion of Claudin-8 as a Candidate Gene

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

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