Publications by authors named "Irene Pinto"

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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.
Talyta Alves da Silva Campos, Alex Honda Bernardes, Irene Plaza Pinto, Hiane Aparecida da Silva Teixeira, Juliana Ferreira da Silva

J Med Case Rep· August 2025

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Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.
Victor Santos, Pedro Paulo Chaves de Souza, Talyta Campos, Hiane Winterly, Thaís Vieira, Irene Pinto

Genes (Basel)· July 2025

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Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability.
Samara Socorro Silva Pereira, Irene Plaza Pinto, Victor Cortázio do Prado Santos, Rafael Carneiro Silva, Emília Oliveira Alves Costa

Genet Mol Biol· August 2024

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Plasmablastic Myeloma: An Unusual Cause of Peripheral Facial Paralysis.
João Dias, Irene Pinto, Catarina Vasconcelos, Vilma Marques

Cureus· February 2024

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Intratendinous Ganglion Cyst of the Extensor Indicis: A Case Report.
João Dias, Irene Pinto, Diogo Costa, Rita Sousa, Tiago Pimenta

Cureus· November 2023

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Tuberculosis Presenting as Chronic Monoarthritis: A Case Study.
Irene Pinto, Vilma Marques, Lúcia Dias

Cureus· May 2023

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A rigorous genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Afif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, Pinang Shastri, Alberto de la Fuente, Irene Plaza Pinto

Front Mol Neurosci· October 2022

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Impact of Hyaluronic Acid Treatment on Rhizarthrosis: a Systematic Review.
Irene Pinto, Catarina Duarte, Filipa Vilabril, Iva Brito

ARP Rheumatol· July 2022

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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.
Ana Julia da Cunha Leite, Irene Plaza Pinto, Nico Leijsten, Martina Ruiterkamp-Versteeg, Rolph Pfundt

PLoS One· April 2022

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Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes.
Cristiano Luiz Ribeiro, Irene P Pinto, Samara S S Pereira, Lysa B Minasi, Fernanda de S M Kluthcouski

Sci Rep· February 2021

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Deviation from Mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation.
Hugo Pereira Leite Filho, Irene Plaza Pinto, Lorraynne Guimarães Oliveira, Emília Oliveira Alves Costa, Alex Silva da Cruz

PLoS One· November 2020

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Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report.
Irene Plaza Pinto, Lysa Bernardes Minasi, Raphael Steckelberg, Claudio Carlos da Silva, Aparecido Divino da Cruz

BMC Pediatr· September 2018

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Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137.
Emília Oliveira Alves Costa, Irene Plaza Pinto, Macks Wendhell Gonçalves, Juliana Ferreira da Silva, Lorraynne Guimarães Oliveira

Sci Rep· April 2018

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Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.
Gustavo R Nascimento, Irene P Pinto, Aldaires V de Melo, Damiana M da Cruz, Cristiano L Ribeiro

Mol Syndromol· May 2017

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The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.
Ana Julia Cunha Leite, Irene Plaza Pinto, Damiana Mirian da Cruz E Cunha, Cristiano Luiz Ribeiro, Claudio Carlos da Silva

Biomed Res Int· February 2017

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Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.
Rodrigo Roncato Pereira, Irene Plaza Pinto, Lysa Bernardes Minasi, Aldaires Vieira de Melo, Damiana Mirian da Cruz e Cunha

PLoS One· April 2015

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A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.
Irene Plaza Pinto, Lysa Bernardes Minasi, Alex Silva da Cruz, Aldaires Vieira de Melo, Damiana Míriam da Cruz E Cunha

Mol Cytogenet· July 2014

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Discovery of ligands for a novel target, the human telomerase RNA, based on flexible-target virtual screening and NMR.
Irene Gómez Pinto, Christophe Guilbert, Nikolai B Ulyanov, Jay Stearns, Thomas L James

J Med Chem· November 2008

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Synthesis and testing of a focused phenothiazine library for binding to HIV-1 TAR RNA.
Moriz Mayer, P Therese Lang, Sabina Gerber, Peter B Madrid, Irene Gómez Pinto

Chem Biol· September 2006

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