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Letter to the Editor from Lao and Merke: “Ehlers–Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia”

The journal of clinical endocrinology and metabolism, 2021-07, Vol.106 (7), p.e2835-e2836

2021

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Management challenges and therapeutic advances in congenital adrenal hyperplasia

Nature reviews. Endocrinology, 2022-06, Vol.18 (6), p.337-352

2022

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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

The New England journal of medicine, 2020-09, Vol.383 (13), p.1248-1261

2020

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Congenital adrenal hyperplasia

The Lancet (British edition), 2005-06, Vol.365 (9477), p.2125-2136

2005

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Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency

European journal of endocrinology, 2016-05, Vol.174 (5), p.601

2016

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Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras

European journal of human genetics : EJHG, 2021-07, Vol.29 (7), p.1047-1048

2021

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High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia

The Journal of molecular diagnostics : JMD, 2019-09, Vol.21 (5), p.924-931

2019

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The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum

Reviews in endocrine & metabolic disorders, 2023-02, Vol.24 (1), p.71-83

2023

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Approach to the Adult with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

The journal of clinical endocrinology and metabolism, 2008-03, Vol.93 (3), p.653-660

Merke, Deborah P

2008

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VISUAL VIGNETTE

Endocrine practice, 2018-06, Vol.24 (6), p.606-606

2018

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Response to Letter to the Editor: “Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency”

The journal of clinical endocrinology and metabolism, 2019-05, Vol.104 (5), p.1415-1416

2019

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Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline

The journal of clinical endocrinology and metabolism, 2016-02, Vol.101 (2), p.364-389

2016

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Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies

The journal of clinical endocrinology and metabolism, 2021-11, Vol.106 (11), p.e4666-e4679

2021

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Comprehensive Mutation Analysis of the CYP21A2 Gene

The Journal of molecular diagnostics : JMD, 2013-11, Vol.15 (6), p.745-753

2013

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Modified-Release Hydrocortisone to Provide Circadian Cortisol Profiles

The journal of clinical endocrinology and metabolism, 2009-05, Vol.94 (5), p.1548-1554

2009

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Course of COVID-19 infection in patients with congenital adrenal hyperplasia

Frontiers in endocrinology (Lausanne), 2024, Vol.15, p.1348130

2024

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Pubertal and Gender-Related Changes in the Sympathoadrenal System in Healthy Children

The journal of clinical endocrinology and metabolism, 2002-11, Vol.87 (11), p.5038-5043

2002

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Evidence of the Role of Inflammation and the Hormonal Environment in the Pathogenesis of Adrenal Myelolipomas in Congenital Adrenal Hyperplasia

International journal of molecular sciences, 2024-03, Vol.25 (5), p.2543

2024

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Morphologic and Molecular Characterization of Adrenals and Adrenal Rest Affected by Congenital Adrenal Hyperplasia

Frontiers in endocrinology (Lausanne), 2021-09, Vol.12, p.730947-730947

2021

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11-Oxygenated Androgens Useful in the Setting of Discrepant Conventional Biomarkers in 21-Hydroxylase Deficiency

Journal of the Endocrine Society, 2021-02, Vol.5 (2), p.bvaa192-bvaa192

2021

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A pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone (ChronocortTM) vs. conventional hydrocortisone (CortefTM) in the treatment of congenital adrenal hyperplasia

Clinical endocrinology (Oxford), 2010-04, Vol.72 (4), p.441-447

2010

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Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

Molecular genetics & genomic medicine, 2023-07, Vol.11 (7), p.e2195-n/a

2023

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A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia

Molecular genetics & genomic medicine, 2021-02, Vol.9 (2), p.e1556-n/a

2021

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24-Hour Profiles of 11-Oxygenated C19 Steroids and Δ5-Steroid Sulfates during Oral and Continuous Subcutaneous Glucocorticoids in 21-Hydroxylase Deficiency

Frontiers in endocrinology (Lausanne), 2021-11, Vol.12, p.751191-751191

2021

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Cardiovascular Disease Risk Factors and Metabolic Morbidity in a Longitudinal Study of Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2021-12, Vol.106 (12), p.e5247-e5257

2021

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Letter to the Editor from Lao and Merke: “Ehlers–Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia”

Management challenges and therapeutic advances in congenital adrenal hyperplasia

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Congenital adrenal hyperplasia

Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency

Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras

High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia

The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum

Approach to the Adult with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

VISUAL VIGNETTE

Response to Letter to the Editor: “Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency”

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline

Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies

Comprehensive Mutation Analysis of the CYP21A2 Gene

Modified-Release Hydrocortisone to Provide Circadian Cortisol Profiles

Course of COVID-19 infection in patients with congenital adrenal hyperplasia

Pubertal and Gender-Related Changes in the Sympathoadrenal System in Healthy Children

Evidence of the Role of Inflammation and the Hormonal Environment in the Pathogenesis of Adrenal Myelolipomas in Congenital Adrenal Hyperplasia

Morphologic and Molecular Characterization of Adrenals and Adrenal Rest Affected by Congenital Adrenal Hyperplasia

11-Oxygenated Androgens Useful in the Setting of Discrepant Conventional Biomarkers in 21-Hydroxylase Deficiency

A pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone (ChronocortTM) vs. conventional hydrocortisone (CortefTM) in the treatment of congenital adrenal hyperplasia

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia

24-Hour Profiles of 11-Oxygenated C19 Steroids and Δ5-Steroid Sulfates during Oral and Continuous Subcutaneous Glucocorticoids in 21-Hydroxylase Deficiency

Cardiovascular Disease Risk Factors and Metabolic Morbidity in a Longitudinal Study of Congenital Adrenal Hyperplasia

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