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List of works by Silvia Parajes

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)

article

A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism

scientific article published on 12 August 2013

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency

scientific article published on 6 June 2015

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)

scientific article

Functional characterization of threeCYP21A2sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system

scientific article published on 01 February 2009

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency

scientific 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

scientific article published on 21 January 2013

Identification of a duplicated P450 side-chain cleavage enzyme (zCyp11a2) defines initiation and maintenance of steroidogenesis in zebrafish

Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia

scientific article published on 15 April 2015

Redefining the initiation and maintenance of zebrafish interrenal steroidogenesis by characterizing the key enzyme cyp11a2.

scientific article published on 13 May 2013

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