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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

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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Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families

European journal of endocrinology, 2011-06, Vol.164 (6), p.977

2011

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Psychiatric characterization of children with genetic causes of hyperandrogenism

European journal of endocrinology, 2010-11, Vol.163 (5), p.801

2010

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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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Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency

Clinical chemistry (Baltimore, Md.), 2012-02, Vol.58 (2), p.421-430

2012

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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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Hypogonadotropic Hypogonadism in a Female Caused by an X-Linked Recessive Mutation in the DAX1 Gene

The New England journal of medicine, 1999-04, Vol.340 (16), p.1248-1252

1999

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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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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

Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families

Psychiatric characterization of children with genetic causes of hyperandrogenism

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

Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency

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

Hypogonadotropic Hypogonadism in a Female Caused by an X-Linked Recessive Mutation in the DAX1 Gene

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

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