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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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Genetics of Congenital Adrenal Hyperplasia

Endocrinology and metabolism clinics of North America, 2017-06, Vol.46 (2), p.435-458

2017

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Management of adolescents with congenital adrenal hyperplasia

The lancet. Diabetes & endocrinology, 2013-12, Vol.1 (4), p.341-352

2013

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

Frontiers in endocrinology (Lausanne), 2024-02, Vol.15, p.1348130

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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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, 2024-02, Vol.25 (5), p.2543

2024

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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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Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X

Genes, 2023-01, Vol.14 (2), p.265

2023

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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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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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Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X

BMC research notes, 2019-10, Vol.12 (1), p.711-711, Article 711

2019

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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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Sexual dimorphism in anxiety is programmed in-utero by sex-steroids: Proof of concept using a disease-model and stress responses to COVID pandemic

Psychiatry research, 2024-01, Vol.331, p.115623-115623, Article 115623

2024

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Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Human genetics, 2018-12, Vol.137 (11-12), p.955-960

2018

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Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia

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

2013

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Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia

Gene, 2019-03, Vol.687, p.30-34

2019

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Multidimensional Aspects of Female Sexual Function in Congenital Adrenal Hyperplasia: A Case-Control Study

Journal of the Endocrine Society, 2020-11, Vol.4 (11), p.bvaa131-bvaa131

2020

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An improved micro-method for the measurement of steroid profiles by APPI-LC–MS/MS and its use in assessing diurnal effects on steroid concentrations and optimizing the diagnosis and treatment of adrenal insufficiency and CAH

The Journal of steroid biochemistry and molecular biology, 2016-09, Vol.162, p.110-116

2016

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Individualizing Management of Infertility in Classic Congenital Adrenal Hyperplasia and Testicular Adrenal Rest Tumors

Journal of the Endocrine Society, 2019-12, Vol.3 (12), p.2290-2294

2019

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Comparison of modified-release hydrocortisone capsules versus prednisolone in the treatment of congenital adrenal hyperplasia

Endocrine Connections, 2024-08, Vol.13 (8), p.1-8

2024

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Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome

European journal of medical genetics, 2014-02, Vol.57 (2), p.95-102

2014

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Tenascin-X gene defects and cardiovascular disease

Medical hypotheses, 2014-12, Vol.83 (6), p.844-844

2014

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Aplasia cutis congenita following in utero methimazole exposure

Journal of Pediatric Endocrinology and Metabolism, 2007-05, Vol.20 (5), p.585

2007

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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

Genetics of Congenital Adrenal Hyperplasia

Management of adolescents with congenital adrenal hyperplasia

Comprehensive Mutation Analysis of the CYP21A2 Gene

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

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

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

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

Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X

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

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

Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X

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

Sexual dimorphism in anxiety is programmed in-utero by sex-steroids: Proof of concept using a disease-model and stress responses to COVID pandemic

Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia

Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia

Multidimensional Aspects of Female Sexual Function in Congenital Adrenal Hyperplasia: A Case-Control Study

An improved micro-method for the measurement of steroid profiles by APPI-LC–MS/MS and its use in assessing diurnal effects on steroid concentrations and optimizing the diagnosis and treatment of adrenal insufficiency and CAH

Individualizing Management of Infertility in Classic Congenital Adrenal Hyperplasia and Testicular Adrenal Rest Tumors

Comparison of modified-release hydrocortisone capsules versus prednisolone in the treatment of congenital adrenal hyperplasia

Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome

Tenascin-X gene defects and cardiovascular disease

Aplasia cutis congenita following in utero methimazole exposure

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