Lista de obras -

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Female counterpart of shawl scrotum in Aarskog-Scott syndrome.

artículo científico publicado en 2006

Growth hormone effect on body composition in Turner syndrome

article

Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development

artículo científico

Klinefelter syndrome: an unusual diagnosis in pediatric patients.

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Parents' experiences of having a baby with ambiguous genitalia

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2007

Lista de obras de

A Search for Disorders of Sex Development among Infertile Men

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

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

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

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

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

Female counterpart of shawl scrotum in Aarskog-Scott syndrome.

Growth hormone effect on body composition in Turner syndrome

Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development

Klinefelter syndrome: an unusual diagnosis in pediatric patients.

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

Mutation update for the NR5A1 gene involved in DSD and infertility

NPHS2 Mutations: A Closer Look to Latin American Countries.

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

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

Parents' experiences of having a baby with ambiguous genitalia

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

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

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

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

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

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

Turner syndrome and metabolic derangements: Another example of fetal programming

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

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

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