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List of works by Tania Bachega

A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency

article

Association of glucocorticoid receptor polymorphisms with clinical and metabolic profiles in polycystic ovary syndrome

scientific article published on March 2014

CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

scientific article published on 15 January 2013

Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency: From Birth to Adulthood ⬇️

scientific article published on 08 October 2012

Congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome due to a 6p deletion

scientific article published on 26 June 2014

Could the leukocyte x chromosome inactivation pattern be extrapolated to hair bulbs?

scientific article published on 9 March 2010

Disorders of sex development: effect of molecular diagnostics.

scientific article published on 05 May 2015

Effects of endocrine disruptors in the development of the female reproductive tract

scientific article published on March 2014

Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency.

scientific article published on 28 October 2008

Frequency of genetic polymorphisms of PXR gene in the Brazilian population.

scientific article published in January 2011

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

scientific article published in December 2017

Impact of Long-Term Dexamethasone Therapy on the Metabolic Profile of Patients With 21-Hydroxylase Deficiency

scientific article published on 19 June 2019

Impact of glucocorticoid receptor gene polymorphisms on the metabolic profile of adult patients with the classical form of 21-hydroxylase deficiency

scientific article

Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia

scientific article

Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

scientific article published on 01 May 2000

Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia.

scientific article

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

scientific article published on 10 October 2016

Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency

scientific article published on 31 July 2007

Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

scientific article published on January 2013

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

scientific article published on 16 May 2016

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency

article

Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening.

scientific article published on 15 December 2016

Obesity and familial predisposition are significant determining factors of an adverse metabolic profile in young patients with congenital adrenal hyperplasia.

scientific article published on 31 July 2013

Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

scientific article

Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.

scientific article published in September 2014

Quality of life of patients with 46,XX and 46,XY disorders of sex development.

scientific article published on 14 August 2014

Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia.

scientific article published on 5 July 2006

Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation

scientific article published on 01 February 2005

Superior discriminating value of ACTH‐stimulated serum 21‐deoxycortisol in identifying heterozygote carriers for 21‐hydroxylase deficiency ⬇️

scientific article published on December 1, 2010

Surgical Treatment after Failed Primary Correction of Urogenital Sinus in Female Patients with Virilizing Congenital Adrenal Hyperplasia: Are Good Results Possible?

scientific article published on 27 October 2016

The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene

scientific article

The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency

scientific article published on 8 April 2008

Trp28Arg/Ile35Thr LHB gene variants are associated with elevated testosterone levels in women with polycystic ovary syndrome

article

Zona fasciculata 21-hydroxysteroids and precursor-to-product ratios in 21-hydroxylase deficiency: further characterization of classic and non-classic patients and heterozygote carriers

scientific article published on 04 October 2010

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