Fernanda C. Soardi

Belo Horizonte, MG, Brazil

Last Updated: 09/26/2026

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Found 12 publications

Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.

Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.

Journal: Breast cancer research and treatment
Published: April 01, 2024

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.

Journal: American journal of human genetics
Published: May 31, 2022

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity.

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity.

Journal: Italian journal of pediatrics
Published: September 01, 2021

Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.

Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: October 12, 2017

Familial STAG2 germline mutation defines a new human cohesinopathy.

Familial STAG2 germline mutation defines a new human cohesinopathy.

Journal: NPJ genomic medicine
Published: July 29, 2016

Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.

Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.

Journal: BioMed research international
Published: March 10, 2014

Investigation of polymorphisms in pre-eclampsia related genes VEGF and IL1A.

Investigation of polymorphisms in pre-eclampsia related genes VEGF and IL1A.

Journal: Archives of gynecology and obstetrics
Published: March 07, 2014

In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.

In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.

Journal: Clinical endocrinology
Published: February 06, 2014

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.

Journal: BMC medical genetics
Published: March 27, 2013

New mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian family.

New mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian family.

Journal: Gene
Published: October 19, 2012

Frasier syndrome: four new cases with unusual presentations.

Frasier syndrome: four new cases with unusual presentations.

Journal: Arquivos brasileiros de endocrinologia e metabologia
Published: July 18, 2012

Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.

Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.

Journal: Clinical endocrinology
Published: November 02, 2011
Showing 1-12 of 12

Last Updated: 09/26/2026