Parajes, Silvia

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

Krone, N., Rose, I. T., Willis, D. S., Hodson, J., Wild, S. H., Doherty, E. J., Hahner, S., Parajes, S., Stimson, R. H., Han, T. S., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 119

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency

Parajes, S., Quinteiro, C., Domínguez, F., & Loidi, L. (2008) · PLoS ONE

Sexual Differentiation and DisordersGenomic variations and chromosomal abnormalities

Cited by 87

A Diagnosis Not to Be Missed: Nonclassic Steroid 11β-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism

Reisch, N., Högler, W., Parajes, S., Rose, I. T., Dhir, V., Götzinger, J., Arlt, W., & Krone, N. (2013) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 73

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)

Parajes, S., Kamrath, C., Rose, I. T., Taylor, A. E., Mooij, C. F., Dhir, V., Grötzinger, J., Arlt, W., & Krone, N. (2011) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 59

High variability in CYP21A2 mutated alleles in Spanish 21‐hydroxylase deficiency patients, six novel mutations and a founder effect

Loidi, L., Quinteiro, C., Parajes, S., Barreiro, J., Lestón, D. G., Cabezas‐Agrícola, J. M., Sueiro, A. M., Araujo‐Vilar, D., Catro‐Feijóo, L., Costas, J., et al. (2006) · Clinical Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 55

5α-Reductase Type 2 Regulates Glucocorticoid Action and Metabolic Phenotype in Human Hepatocytes

Nasiri, M., Nikolaou, N., Parajes, S., Krone, N. P., Valsamakis, G., Mastorakos, G., Hughes, B., Taylor, A., Bujalska, I. J., Gathercole, L. L., et al. (2015) · Endocrinology

Liver Disease Diagnosis and TreatmentEstrogen and related hormone effects

Cited by 50

Influence of 17-hydroxyprogesterone, progesterone and sex steroids on mineralocorticoid receptor transactivation in congenital adrenal hyperplasia

Mooij, C. F., Parajes, S., Pijnenburg-Kleizen, K. J., Arlt, W., Krone, N., & Claahsen-van der Grinten, H. L. (2015) · Hormone Research in Paediatrics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 27

Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system: Functional Characterization of CYP21A2 Variants

Bleicken, C., Loidi, L., Dhir, V., Parajes, S., Quinteiro, C., Dominguez, F., Grötzinger, J., Sippell, W. G., Riepe, F. G., Arlt, W., et al. (2009) · Human Mutation

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 15