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Congenital adrenal hyperplasia

The Lancet (British edition), 2017-11, Vol.390 (10108), p.2194-2210

2017

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Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clirnical 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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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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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

The journal of clinical endocrinology and metabolism, 2018-11, Vol.103 (11), p.4043-4088

2018

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Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome

Hormone research in paediatrics, 2018-01, Vol.89 (5), p.352-361

2018

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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

The journal of clinical endocrinology and metabolism, 2010-09, Vol.95 (9), p.4133-4160

2010

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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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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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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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Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians

Genetics in medicine, 2017-11, Vol.19 (11), p.1276-1279

2017

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Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

The journal of clinical endocrinology and metabolism, 2011-01, Vol.96 (1), p.E161-E172

2011

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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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Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia

Human mutation, 2016-09, Vol.37 (9), p.893-897

2016

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Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2015-08, Vol.100 (8), p.E1143-E1152

2015

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Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2013-02, Vol.98 (2), p.E379-E387

2013

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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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Cardiovascular disease risk in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Seminars in reproductive medicine, 2009-07, Vol.27 (4), p.316

2009

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Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Human genetics, 2012-12, Vol.131 (12), p.1889-1894

2012

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Hypoglycemia During Acute Illness in Children With Classic Congenital Adrenal Hyperplasia

Journal of pediatric nursing, 2010-02, Vol.25 (1), p.18-24

2010

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Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome

American journal of medical genetics. Part A, 2006-10, Vol.140A (20), p.2236-2240

2006

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Novel basic and clinical aspects of congenital adrenal hyperplasia

Reviews in endocrine & metabolic disorders, 2001-08, Vol.2 (3), p.289-296

2001

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Genetics of congenital adrenal hyperplasia

Best Practice & Research Clinical Endocrinology & Metabolism, 2009-04, Vol.23 (2), p.181-192

2009

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New approaches to the treatment of congenital adrenal hyperplasia

JAMA : the journal of the American Medical Association, 1997-04, Vol.277 (13), p.1073

1997

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Follow-Up of 68 Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Management

The journal of clinical endocrinology and metabolism, 2003-06, Vol.88 (6), p.2624-2633

2003

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Congenital adrenal hyperplasia

Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clirnical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia"

Genetics of Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Management of adolescents with congenital adrenal hyperplasia

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

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

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians

Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

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

Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia

Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia

Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia

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

Cardiovascular disease risk in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Hypoglycemia During Acute Illness in Children With Classic Congenital Adrenal Hyperplasia

Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome

Novel basic and clinical aspects of congenital adrenal hyperplasia

Genetics of congenital adrenal hyperplasia

New approaches to the treatment of congenital adrenal hyperplasia

Follow-Up of 68 Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Management

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