Aparecido D. Da Cruz

Goiania, GO, Brazil

Last Updated: 09/26/2026

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Found 45 publications

Household survey on prevalence and risk factors for obesity in owned cats from Central Brazil.

Household survey on prevalence and risk factors for obesity in owned cats from Central Brazil.

Journal: PloS one
Published: July 30, 2025

Chromosome 15q Structural Variants Associated with Syndromic Autism Spectrum Disorder: Clinical and Genomic Insights from Three Case Reports in a Brazilian Reference Center.

Chromosome 15q Structural Variants Associated with Syndromic Autism Spectrum Disorder: Clinical and Genomic Insights from Three Case Reports in a Brazilian Reference Center.

Journal: International journal of molecular sciences
Published: July 19, 2025

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

Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene.

Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene.

Journal: Genes
Published: September 25, 2024

c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome.

c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome.

Journal: International medical case reports journal
Published: November 29, 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

The influence of six polymorphisms of uncoupling protein 3 (UCP3) gene and childhood obesity: a case-control study.

The influence of six polymorphisms of uncoupling protein 3 (UCP3) gene and childhood obesity: a case-control study.

Journal: BMC pediatrics
Published: November 26, 2021

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

Single-Nucleotide Polymorphism Variations Associated With Specific Genes Putatively Identified Enhanced Genetic Predisposition for 305-Day Milk Yield in the Girolando Crossbreed.

Single-Nucleotide Polymorphism Variations Associated With Specific Genes Putatively Identified Enhanced Genetic Predisposition for 305-Day Milk Yield in the Girolando Crossbreed.

Journal: Frontiers in genetics
Published: June 16, 2020

Genotoxicity and mutagenicity research in Quilombola communities.

Genotoxicity and mutagenicity research in Quilombola communities.

Journal: Scientific reports
Published: May 31, 2020
Showing 1-12 of 45

Last Updated: 09/26/2026