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Disproportionate stature but normal height in hypochondroplasia.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Quality of Life in Children and Young People With Congenital Adrenal Hyperplasia—UK Nationwide Multicenter Assessment.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 1, p. e336, doi. 10.1210/clinem/dgad405
- By:
- Publication type:
- Article
MondoA regulates gene expression in cholesterol biosynthesis-associated pathways required for zebrafish epiboly.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.57068
- By:
- Publication type:
- Article
Quantitative Brain MRI in Congenital Adrenal Hyperplasia: In Vivo Assessment of the Cognitive and Structural Impact of Steroid Hormones.
- Published in:
- 2017
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- Publication type:
- journal article
Birth Weight in Different Etiologies of Disorders of Sex Development.
- Published in:
- 2017
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- Publication type:
- journal article
Modified-Release and Conventional Glucocorticoids and Diurnal Androgen Excretion in Congenital Adrenal Hyperplasia.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Diminished 11β-hydroxysteroid dehydrogenase type 2 activity is associated with decreased weight and weight gain across the first year of life.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Novel associations in disorders of sex development: findings from the I-DSD Registry.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.
- Published in:
- 2012
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- Publication type:
- journal article
Urine steroid metabolomics as a biomarker tool for detecting malignancy in adrenal tumors.
- Published in:
- 2011
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- Publication type:
- journal article
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).
- Published in:
- 2011
- By:
- Publication type:
- journal article
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Blood Pressure in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 315, doi. 10.1159/000533465
- By:
- Publication type:
- Article
Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Elucidating the Underlying Molecular Pathogenesis of NR3C2 Mutants Causing Autosomal Dominant Pseudohypoaldosteronism Type 1.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 11, p. 4552, doi. 10.1210/jc.2006-1161
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- Publication type:
- Article
Analyzing the Functional and Structural Consequences of Two Point Mutations (P94L and A368D) in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia Resulting from 11-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 7, p. 2682, doi. 10.1210/jc.2006-0209
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- Publication type:
- Article
Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 3724, doi. 10.1210/jc.2005-0089
- By:
- Publication type:
- Article
Autosomal-Dominant Pseudohypoaldosteronism Type 1 in a Turkish Family Is Associated with a Novel Nonsense Mutation in the Human Mineralocorticoid Receptor Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 5, p. 2150, doi. 10.1210/jc.2003-031555
- By:
- Publication type:
- Article
Identification of a Novel Mutation in the Human Mineralocorticoid Receptor Gene in a German Family with Autosomal-Dominant Pseudohypoaldosteronism Type 1: Further Evidence for Marked Interindividual Clinical Heterogeneity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 4, p. 1683, doi. 10.1210/jc.2002-021556
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- Publication type:
- Article
Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Bidirectional crosstalk between Hypoxia-Inducible Factor and glucocorticoid signalling in zebrafish larvae.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 5, p. 1, doi. 10.1371/journal.pgen.1008757
- By:
- Publication type:
- Article
The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions.
- Published in:
- Journal of Molecular Medicine, 2005, v. 83, n. 7, p. 561, doi. 10.1007/s00109-005-0655-3
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- Publication type:
- Article
CYP21 mutations in simple virilizing congenital adrenal hyperplasia.
- Published in:
- Journal of Molecular Medicine, 2001, v. 79, n. 10, p. 581, doi. 10.1007/s001090100261
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- Publication type:
- Article
Factors Associated With Response to Growth Hormone in Pediatric Growth Disorders: Results of a 5-year Registry Analysis.
- Published in:
- Journal of the Endocrine Society, 2023, v. 7, n. 5, p. 1, doi. 10.1210/jendso/bvad026
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- Publication type:
- Article
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
- Published in:
- Journal of the Endocrine Society, 2021, v. 5, n. 8, p. 1, doi. 10.1210/jendso/bvab086
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- Publication type:
- Article
Assessing the Response of Biomarkers to Anti-Inflammatory Medications in PIMS-TS by Longitudinal Multilevel Modeling: Real-World Data from a UK Tertiary Center.
- Published in:
- Pediatric Allergy, Immunology & Pulmonology, 2023, v. 36, n. 3, p. 94, doi. 10.1089/ped.2023.0024
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- Publication type:
- Article
Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study.
- Published in:
- Sexual Development, 2021, v. 15, n. 4, p. 229, doi. 10.1159/000517055
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- Publication type:
- Article
Identification of a Novel Large CYP17A1 Deletion by MLPA Analysis in a Family with Classic 17α-Hydroxylase Deficiency.
- Published in:
- Sexual Development, 2015, v. 9, n. 2, p. 91, doi. 10.1159/000375183
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- Publication type:
- Article
46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene.
- Published in:
- Sexual Development, 2014, v. 8, n. 4, p. 151, doi. 10.1159/000363201
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- Publication type:
- Article
Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study.
- Published in:
- European Journal of Endocrinology, 2022, v. 187, n. 4, p. 543, doi. 10.1530/EJE-21-1109
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- Publication type:
- Article
Treatment of congenital adrenal hyperplasia in children aged 0–3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure.
- Published in:
- European Journal of Endocrinology, 2022, v. 186, n. 5, p. 587, doi. 10.1530/EJE-21-1085
- By:
- Publication type:
- Article
The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.
- Published in:
- European Journal of Endocrinology, 2021, v. 185, n. 5, p. 729, doi. 10.1530/EJE-21-0152
- By:
- Publication type:
- Article
Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children.
- Published in:
- European Journal of Endocrinology, 2019, v. 180, n. 3, p. 213, doi. 10.1530/EJE-18-0854
- By:
- Publication type:
- Article
Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).
- Published in:
- European Journal of Endocrinology, 2013, v. 168, n. 6, p. 887, doi. 10.1530/EJE-13-0128
- By:
- Publication type:
- Article
Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X).
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 6, p. 881, doi. 10.1530/EJE-12-0450
- By:
- Publication type:
- Article
Premature adrenarche: novel lessons from early onset androgen excess.
- Published in:
- European Journal of Endocrinology, 2011, v. 165, n. 2, p. 189, doi. 10.1530/EJE-11-0223
- By:
- Publication type:
- Article
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
- Published in:
- European Journal of Endocrinology, 2005, v. 152, n. 4, p. 515, doi. 10.1530/eje.1.01879
- By:
- Publication type:
- Article
Ferredoxin 1b Deficiency Leads to Testis Disorganization, Impaired Spermatogenesis, and Feminization in Zebrafish.
- Published in:
- Endocrinology, 2019, v. 160, n. 10, p. 2401, doi. 10.1210/en.2019-00068
- By:
- Publication type:
- Article
Low Estriol Levels in the Maternal Marker Screen as a Predictor of X-Linked Adrenal Hypoplasia Congenita: Case Report.
- Published in:
- Srpski Arhiv za Celokupno Lekarstvo, 2014, v. 142, n. 11/12, p. 728, doi. 10.2298/SARH1412728D
- By:
- Publication type:
- Article
Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland.
- Published in:
- Clinical Endocrinology, 2024, v. 101, n. 4, p. 386, doi. 10.1111/cen.15043
- By:
- Publication type:
- Article