List of works by Jan Idkowiak

A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency

scientific article

Causes, patterns and severity of androgen excess in 1205 consecutively recruited women

scientific article published on 12 January 2018

Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children

scientific article published on 01 March 2019

Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche

scientific article

Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome

scientific article published on 18 March 2016

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

scientific article

Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA sulfotransferase SULT2A1.

scientific article

Hypoblast controls mesoderm generation and axial patterning in the gastrulating rabbit embryo

scientific article

ISPAD Annual Conference 2017 Highlights

scientific article published on 01 August 2018

Monogenic Disorders of Adrenal Steroidogenesis

scientific article published on 06 June 2018

Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling ⬇️

scientific article published on February 2013

PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations

scientific article

Polarity in the rabbit embryo

scientific article published in October 2004

Premature adrenarche: novel lessons from early onset androgen excess

scientific article published on 26 May 2011

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency

scientific article published on 30 January 2013

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

scientific article

Pubertal timing in boys and girls born to mothers with gestational diabetes mellitus: a systematic review

scientific article published on 01 October 2020

Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis

scientific article

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

scientific article published on 01 December 2019

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.

scientific article published on 22 March 2016

Support for children and young people with diabetes mellitus during school hours

scientific article published on 03 February 2020

The Regulation of Steroid Action by Sulfation and Desulfation

scientific article

The differential impact of PAPS synthase isoforms on DHEAS may be explained by an isoform-specific interaction of SULT2A1 with PAPSS2, but not PAPSS1

The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

scientific article

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