J. Idkowiak

发表

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

G. Lavery, C. Shackleton, E. Walker, 2012, European journal of endocrinology.

Premature adrenarche: novel lessons from early onset androgen excess.

T. Barrett, G. Lavery, P. Stewart, 2011, European journal of endocrinology.

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

I. Hughes, C. Shackleton, N. Krone, 2010, The Journal of clinical endocrinology and metabolism.

at Adrenarche Genes Presenting with 46,XY Disordered Sex Development and Androgenization Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor

I. Hughes, N. Krone, W. Arlt, 2010 .

Genes Presenting with 46 , XY Disordered Sex Development and Androgenization Concomitant Mutations in the P 450 Oxidoreductase and Androgen Receptor

I. Hughes, N. Krone, W. Arlt, 2010 .

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

E. Rosta, S. Knauer, W. Arlt, 2018, The Journal of Biological Chemistry.

University of Birmingham Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA

E. Rosta, J. Jez, S. Knauer, 2018 .

Monogenic Disorders of Adrenal Steroidogenesis

W. Arlt, J. Idkowiak, E. Baranowski, 2018, Hormone Research in Paediatrics.

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

K. Toulis, S. Thangaratinam, W. Arlt, 2020, medRxiv.

The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

M. Schuelke, P. Boffi, C. Hübner, 2012, Pediatrics.

Distress Type 1 (SMARD1) The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory

M. Schuelke, P. Boffi, C. Hübner, 2011 .

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

K. Storbeck, C. Shackleton, W. Arlt, 2019, Endocrine reviews.

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty

R. Amin, T. Barrett, C. Shackleton, 2016, The Journal of clinical endocrinology and metabolism.

University of Birmingham Steroid sulfatase sulfatase deficiency and androgen activation before and after puberty

R. Amin, T. Barrett, C. Shackleton, 2016 .

University of Birmingham Monogenic disorders of adrenal steroidogenesis

W. Arlt, J. Idkowiak, E. Baranowski, 2018 .

PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

A. Uitterlinden, A. Verkerk, M. Losekoot, 2015, The Journal of clinical endocrinology and metabolism.

DYNAMIC: Dynamic glucose management strategies delivered through a structured education program improves time in range in a socioeconomically deprived cohort of children and young people with type 1 diabetes with a history of hypoglycemia

T. Barrett, J. Idkowiak, R. Dias, 2020, Pediatric diabetes.

University of Birmingham Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA

E. Rosta, S. Knauer, W. Arlt, 2018 .

Polarity in the rabbit embryo.

C. Viebahn, J. Idkowiak, G. Weisheit, 2004, Seminars in cell & developmental biology.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, E. Blair, C. Shackleton, 2013, The Journal of clinical endocrinology and metabolism.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, R. Harrison, E. Blair, 2013, The Journal of clinical endocrinology and metabolism.

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, P. Hindmarsh, M. Kempers, 2011, The Journal of clinical endocrinology and metabolism.

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, B. Köhler, L. Graul-Neumann, 2010, The Journal of clinical endocrinology and metabolism.

Breast satisfaction in adult women with Turner syndrome—An international survey employing the BREAST‐Q questionnaire

H. Gleeson, J. Idkowiak, W. Högler, 2021, Clinical endocrinology.

Molecular regulation of adrenal androgen biosynthesis

J. Idkowiak, 2015 .

The Regulation of Steroid Action by Sulfation and Desulfation

P. Foster, W. Arlt, J. Idkowiak, 2015, Endocrine reviews.

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency

C. Shackleton, N. Taylor, N. Krone, 2011, The Journal of clinical endocrinology and metabolism.

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.

F. de Zegher, C. Kim, A. Latronico, 2020, Human reproduction.

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

C. Viebahn, J. Idkowiak, G. Weisheit, 2004, Development Genes and Evolution.

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

A. Dunaif, C. Shackleton, W. Arlt, 2016, The Journal of clinical endocrinology and metabolism.

Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis

Ramona Jühlen, K. Koehler, A. Huebner, 2015, PloS one.

Causes, Patterns, and Severity of Androgen Excess in 1205 Consecutively Recruited Women

W. Arlt, H. Gleeson, J. Idkowiak, 2018, The Journal of clinical endocrinology and metabolism.

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

J. Idkowiak, Theodora Papanikolaou, J. C. Agwu, 2020, Postgraduate medical journal.

Care of children with type i diabetes (TID) whilst in school

J. Idkowiak, Theodora Papanikolaou, J. C. Agwu, 2017 .

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

T. Barrett, N. Krone, W. Arlt, 2018, European journal of endocrinology.

Broad phenotypic spectrum of 17[alpha]-hydroxylase deficiency: Functional characterisation of 4 novel mutations in the CYP17A1 gene

T. Cheetham, C. Shackleton, N. Taylor, 2012 .

Pitfalls in the diagnosis of an infant with 46,XX DSD with Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase deficiency - the value of simultaneous genetic analysis to the diagnosis in DSD

N. Krone, J. Kirk, J. Idkowiak, 2018, Endocrine Abstracts.

Monogenic Disorders of Adrenal Steroidogenesis

W. Arlt, J. Idkowiak, E. Baranowski, 2018, Hormone Research in Paediatrics.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, R. Harrison, E. Blair, 2013, The Journal of clinical endocrinology and metabolism.

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, B. Köhler, L. Graul-Neumann, 2010, The Journal of clinical endocrinology and metabolism.

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

I. Hughes, C. Shackleton, N. Krone, 2010, The Journal of clinical endocrinology and metabolism.

University of Birmingham Steroid sulfatase sulfatase deficiency and androgen activation before and after puberty

R. Amin, T. Barrett, C. Shackleton, 2016 .

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

M. Losekoot, G. Santen, S. Kant, 2015 .

of Birmingham Pubertal timing in boys and girls born to mothers with gestational diabetes mellitus

K. Toulis, S. Thangaratinam, K. Nirantharakumar, 2022 .

Management aspects of congenital adrenal hyperplasia during adolescence and transition to adult care.

J. Idkowiak, Chamila Balagamage, Yasir S Elhassan, 2023, Clinical endocrinology.