Irene P. Pinto

Goiania, GO, Brazil

Last Updated: 09/26/2026

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Found 16 publications

Somatic copy number variations as long-term genomic biomarkers of ionizing radiation exposure in individuals accidentally exposed to Cesium-137 during the Goiânia radiological accident.

Somatic copy number variations as long-term genomic biomarkers of ionizing radiation exposure in individuals accidentally exposed to Cesium-137 during the Goiânia radiological accident.

Journal: International journal of radiation biology
Published: April 14, 2026

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.

Journal: Genes
Published: June 23, 2025

c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report.

c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report.

Journal: Journal of medical case reports
Published: January 31, 2025

Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability.

Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability.

Journal: Genetics and molecular biology
Published: November 01, 2023

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.

Journal: Frontiers in molecular neuroscience
Published: June 27, 2022

Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.

Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.

Journal: PloS one
Published: November 16, 2021

Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes.

Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes.

Journal: Scientific reports
Published: September 08, 2020

Deviation from Mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation.

Deviation from Mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation.

Journal: PloS one
Published: May 15, 2020

Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report.

Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report.

Journal: BMC pediatrics
Published: February 23, 2018

Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137.

Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137.

Journal: Scientific reports
Published: September 14, 2017

A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.

A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.

Journal: Genetics and molecular research : GMR
Published: January 28, 2017

Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.

Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.

Journal: Molecular syndromology
Published: January 02, 2017
Showing 1-12 of 16

Last Updated: 09/26/2026