Antonia P. Faria-De

Campinas, SP 13083888, Brazil

Last Updated: 09/26/2026

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Found 19 publications

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.

Journal: Genes

Published: April 13, 2025

A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review.

A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review.

Journal: Psychiatric genetics

Published: March 12, 2025

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Journal: Molecular syndromology

Published: October 05, 2024

Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing.

Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing.

Journal: Jornal de pediatria

Published: December 27, 2023

Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21.

Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21.

Journal: Cytogenetic and genome research

Published: December 27, 2023

Sex dimorphism of weight and length at birth: evidence based on disorders of sex development.

Sex dimorphism of weight and length at birth: evidence based on disorders of sex development.

Journal: Annals of human biology

Published: October 11, 2022

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study.

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study.

Journal: Sao Paulo medical journal = Revista paulista de medicina

Published: May 06, 2022

Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients.

Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients.

Journal: PloS one

Published: October 22, 2021

Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service.

Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service.

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

Published: April 17, 2021

Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature.

Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature.

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

Published: June 20, 2020

Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service.

Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service.

Journal: Jornal de pediatria

Published: March 20, 2019

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.

Journal: International journal of endocrinology

Published: July 09, 2016

Showing 1-12 of 19

Last Updated: 09/26/2026