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List of works by Andréa Maciel-Guerra

A Search for Disorders of Sex Development among Infertile Men

article

Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.

scientific article

Clinical and cytogenetic features of 516 patients with suspected Turner syndrome - a single-center experience.

scientific article published on 5 January 2018

Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.

scientific article published on 8 January 2018

Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis

scientific article published on 01 January 2018

FSH may be a useful tool to allow early diagnosis of Turner syndrome

scientific article published on 7 February 2018

Female counterpart of shawl scrotum in Aarskog-Scott syndrome.

scientific article published in July 2006

Growth hormone effect on body composition in Turner syndrome

article

Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development

scientific article published on 22 August 2017

Klinefelter syndrome: an unusual diagnosis in pediatric patients.

scientific article

Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant.

scientific article published on 3 September 2015

Mutation update for the NR5A1 gene involved in DSD and infertility

scientific article published on 27 September 2019

NPHS2 Mutations: A Closer Look to Latin American Countries.

scientific article published on 12 July 2017

NPHS2 mutations account for only 15% of nephrotic syndrome cases.

scientific article published on 29 September 2015

New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome

scientific article published on 14 January 2016

Parents' experiences of having a baby with ambiguous genitalia

scientific article published on 01 July 2015

Prader-Willi syndrome: a case report with atypical developmental features.

scientific article published in September 2014

Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor

scientific article published on 15 November 2014

Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family

scientific article published on 13 September 2019

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

scientific article published on 23 October 2020

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family.

scientific article

Three new Brazilian cases of 17α-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features

scientific article published on 01 August 2018

Turner syndrome and metabolic derangements: Another example of fetal programming

scientific article published on 29 July 2011

Turner syndrome: a pediatric diagnosis frequently made by non-pediatricians

article

WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome.

scientific article published on 13 January 2017

[Evidences for subclinic chronic autoimmune thyroid disease in girls with Turner Syndrome].

scientific article

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