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Using the five to fifteen-collateral informant questionnaire for retrospective assessment of childhood symptoms in adults with and without autism or ADHD

European child & adolescent psychiatry, 2021-09, Vol.30 (9), p.1367-1381

2021

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Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and Scandinavian Patients

The journal of clinical endocrinology and metabolism, 2008-06, Vol.93 (6), p.2416-2420

2008

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Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency

BioMed research international, 2014-01, Vol.2014 (2014), p.1-8

2014

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Long-Term Outcome of Prenatal Treatment of Congenital Adrenal Hyperplasia

Disorders of the Human Adrenal Cortex, 2008, Vol.13, p.82-98

2008

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Congenital adrenal hyperplasia

The Lancet (British edition), 2023-01, Vol.401 (10372), p.227-244

2023

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Current and Novel Treatment Strategies in Children with Congenital Adrenal Hyperplasia

Hormone research in paediatrics, 2023, Vol.96 (6), p.560-572

2023

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Resting-state functional connectivity in Autoimmune Addison's Disease

PSYCHONEUROENDOCRINOLOGY, 2023-07, Vol.153, p.106206, Article 106206

2023

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Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia

The journal of clinical endocrinology and metabolism, 1998-11, Vol.83 (11), p.3872-3880

1998

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Functional studies of two novel and two rare mutations in the 21-hydroxylase gene

Journal of molecular medicine (Berlin, Germany), 2006-06, Vol.84 (6), p.521-528

2006

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Functional Analysis of Two Recurrent Amino Acid Substitutions in the CYP21 Gene from Italian Patients with Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2004-05, Vol.89 (5), p.2402-2407

2004

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Clinical outcomes in 21-hydroxylase deficiency

Current opinion in endocrinology, diabetes, and obesity, 2021-06, Vol.28 (3), p.318-324

2021

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Cognitive impairment in adolescents and adults with congenital adrenal hyperplasia

Clinical endocrinology (Oxford), 2017-12, Vol.87 (6), p.651-659

2017

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Transition Readiness in Adolescents and Young Adults Living With Congenital Adrenal Hyperplasia

Endocrine practice, 2023-04, Vol.29 (4), p.266-271

2023

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Long-Term Outcomes of Congenital Adrenal Hyperplasia

Endocrinology and Metabolism, 2022, 37(4), , pp.587-598

2022

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First Trimester Dexamethasone Treatment Is Not Associated With Alteration in Resting-state Connectivity at Adolescent or Adult Age

The journal of clinical endocrinology and metabolism, 2022-09, Vol.107 (10), p.2769-2776

2022

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Cognitive Function of Children and Adolescents With Congenital Adrenal Hyperplasia: Importance of Early Diagnosis

The journal of clinical endocrinology and metabolism, 2020-03, Vol.105 (3), p.e683-e691

2020

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The impact of adherence and therapy regimens on quality of life in patients with congenital adrenal hyperplasia

Clinical endocrinology (Oxford), 2022-05, Vol.96 (5), p.666-679

2022

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Prenatal dexamethasone treatment in the context of at risk CAH pregnancies: Long-term behavioral and cognitive outcome

Psychoneuroendocrinology, 2018-05, Vol.91, p.68-74

2018

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Novel mutations in CYP21 detected in individuals with hyperandrogenism

The journal of clinical endocrinology and metabolism, 2002-06, Vol.87 (6), p.2824-2829

2002

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Perturbed Beta-Cell Function and Lipid Profile After Early Prenatal Dexamethasone Exposure in Individuals Without CAH

The journal of clinical endocrinology and metabolism, 2020-07, Vol.105 (7), p.e2439-e2448

2020

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Prenatal Treatment of Congenital Adrenal Hyperplasia: Long-Term Effects of Excess Glucocorticoid Exposure

Hormone research in paediatrics, 2018-01, Vol.89 (5), p.362-371

2018

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Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis

Endocrine, 2021-03, Vol.71 (3), p.586-594

2021

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First-Trimester Prenatal Dexamethasone Treatment Is Associated With Alterations in Brain Structure at Adult Age

The journal of clinical endocrinology and metabolism, 2020-08, Vol.105 (8), p.2575-2586

2020

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Brain activity during visuospatial working memory in congenital adrenal hyperplasia

Cortex, 2023-02, Vol.159, p.1-15

2023

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Ambulatory Blood Pressure Monitoring in Children and Adults Prenatally Exposed to Dexamethasone Treatment

The journal of clinical endocrinology and metabolism, 2022-05, Vol.107 (6), p.e2481-e2487

2022

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Using the five to fifteen-collateral informant questionnaire for retrospective assessment of childhood symptoms in adults with and without autism or ADHD

Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and Scandinavian Patients

Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency

Long-Term Outcome of Prenatal Treatment of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia

Current and Novel Treatment Strategies in Children with Congenital Adrenal Hyperplasia

Resting-state functional connectivity in Autoimmune Addison's Disease

Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene

Functional Analysis of Two Recurrent Amino Acid Substitutions in the CYP21 Gene from Italian Patients with Congenital Adrenal Hyperplasia

Clinical outcomes in 21-hydroxylase deficiency

Cognitive impairment in adolescents and adults with congenital adrenal hyperplasia

Transition Readiness in Adolescents and Young Adults Living With Congenital Adrenal Hyperplasia

Long-Term Outcomes of Congenital Adrenal Hyperplasia

First Trimester Dexamethasone Treatment Is Not Associated With Alteration in Resting-state Connectivity at Adolescent or Adult Age

Cognitive Function of Children and Adolescents With Congenital Adrenal Hyperplasia: Importance of Early Diagnosis

The impact of adherence and therapy regimens on quality of life in patients with congenital adrenal hyperplasia

Prenatal dexamethasone treatment in the context of at risk CAH pregnancies: Long-term behavioral and cognitive outcome

Novel mutations in CYP21 detected in individuals with hyperandrogenism

Perturbed Beta-Cell Function and Lipid Profile After Early Prenatal Dexamethasone Exposure in Individuals Without CAH

Prenatal Treatment of Congenital Adrenal Hyperplasia: Long-Term Effects of Excess Glucocorticoid Exposure

Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis

First-Trimester Prenatal Dexamethasone Treatment Is Associated With Alterations in Brain Structure at Adult Age

Brain activity during visuospatial working memory in congenital adrenal hyperplasia

Ambulatory Blood Pressure Monitoring in Children and Adults Prenatally Exposed to Dexamethasone Treatment

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