Silvia Parajes

Silvia Parajes

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Silvia Parajes

Silvia Parajes

Publications by authors named "Silvia Parajes"

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18Publications

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Ferredoxin 1b (Fdx1b) Is the Essential Mitochondrial Redox Partner for Cortisol Biosynthesis in Zebrafish.

Endocrinology 2016 Mar 9;157(3):1122-34. Epub 2015 Dec 9.

Centre for Endocrinology, Diabetes, and Metabolism (A.G., S.P., M.W., A.Z., A.E.T., D.M.O., N.K.), School of Clinical and Experimental Medicine (F.M.), College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, United Kingdom; and Department of Oncology and Metabolism (N.K.), University of Sheffield, Sheffield S10 2TG, United Kingdom.

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http://dx.doi.org/10.1210/en.2015-1480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769370PMC
March 2016

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

Clin Endocrinol (Oxf) 2015 Nov 14;83(5):629-35. Epub 2015 Jul 14.

Centre for Endocrinology, Diabetes, and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1111/cen.12834DOI Listing
November 2015

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

Endocrinology 2015 Aug 14;156(8):2863-71. Epub 2015 May 14.

Centre for Endocrinology, Diabetes and Metabolism (M.N., S.P., N.P.K., B.H., A.T., I.J.B.), Institute of Biomedical Research, School of Clinical and Experimental Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom; Oxford Centre for Diabetes, Endocrinology & Metabolism (N.N., L.L.G., J.W.T.), NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom; and Endocrine Unit, Second Department of Obstetrics and Gynecology and Pathology Department (G.V., G.M.), Aretaieion University Hospital, Athens Medical School, Athens, 11528, Greece.

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http://dx.doi.org/10.1210/en.2015-1149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511138PMC
August 2015

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

Horm Res Paediatr 2015 Apr 15. Epub 2015 Apr 15.

Centre for Endocrinology, Diabetes, and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1159/000374112DOI Listing
April 2015

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

J Clin Endocrinol Metab 2013 Oct 12;98(10):E1620-5. Epub 2013 Aug 12.

MD, FRCPCH, Centre for Endocrinology, Diabetes, and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom.

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http://dx.doi.org/10.1210/jc.2013-1306DOI Listing
October 2013

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

Endocrinology 2013 Aug 13;154(8):2702-11. Epub 2013 May 13.

Centre for Endocrinology, Diabetes, and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom.

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http://dx.doi.org/10.1210/en.2013-1145DOI Listing
August 2013

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).

Eur J Endocrinol 2012 Dec 11;167(6):881-5. Epub 2012 Sep 11.

School of Clinical and Experimental Medicine, Institute of Biomedical Research, Centre for Endocrinology, Diabetes and Metabolism, University of Birmingham, Wolfson Drive, Birmingham B15 2TT, UK.

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https://eje.bioscientifica.com/doi/10.1530/EJE-12-0450
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http://dx.doi.org/10.1530/EJE-12-0450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3494866PMC
December 2012

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).

J Clin Endocrinol Metab 2011 Nov 31;96(11):E1798-806. Epub 2011 Aug 31.

Centre for Endocrinology, Diabetes, and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Institute of Biomedical Research, Wolfson Drive, Birmingham B15 2TT, United Kingdom.

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http://dx.doi.org/10.1210/jc.2011-1277DOI Listing
November 2011

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

J Clin Endocrinol Metab 2010 Feb 20;95(2):779-88. Epub 2010 Jan 20.

Centre for Endocrinology, Diabetes, and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Institute of Biomedical Research, Wolfson Drive, Birmingham B15 2TT, United Kingdom.

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http://dx.doi.org/10.1210/jc.2009-0651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846960PMC
February 2010

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

Hum Mutat 2009 Feb;30(2):E443-50

Institute of Biomedical Research, Division of Medical Sciences, University of Birmingham, Birmingham, United Kingdom.

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http://dx.doi.org/10.1002/humu.20926DOI Listing
February 2009

Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

Eur J Endocrinol 2008 Sep 26;159(3):243-9. Epub 2008 Jun 26.

Unidad de Endocrinología Pediátrica, Crecimiento y Adolescencia, Departamento de Pediatría, Hospital Clínico Universitario y Universidad de Santiago de Compostela, 15706 Santiago de Compostela, Spain.

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http://dx.doi.org/10.1530/EJE-08-0393DOI Listing
September 2008

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

PLoS One 2008 May 14;3(5):e2138. Epub 2008 May 14.

Fundación Pública Galega de Medicina Xenómica (Unidad de Medicina Molecular), Hospital Clínico Universitario, Santiago de Compostela, A Coruña, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0002138PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2364643PMC
May 2008

A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency.

Clin Chem 2007 Sep 18;53(9):1577-84. Epub 2007 Jul 18.

Fundación Pública Gallega de Medicina Genómica (Unidad de Medicina Molecular), Santiago de Compostela, Spain.

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http://dx.doi.org/10.1373/clinchem.2007.087361DOI Listing
September 2007

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

Clin Endocrinol (Oxf) 2006 Mar;64(3):330-6

Fundación Pública Gallega de Medicina Genómica, Unidad de Medicina Molecular, Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1111/j.1365-2265.2006.02465.xDOI Listing
March 2006

A comparative study of the utility of two superdisintegrants in microcrystalline cellulose pellets prepared by extrusion-spheronization.

Eur J Pharm Biopharm 2005 Sep;61(1-2):94-9

Departamento de Farmacia y Tecnología Farmacéutica, Facultad de Farmacia, Universidad de Santiago de Compostela, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.ejpb.2005.04.003DOI Listing
September 2005