A5078973850- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomics and Chromatin Dynamics
- Lysosomal Storage Disorders Research
- Congenital heart defects research
- Cellular transport and secretion
- Animal Genetics and Reproduction
- RNA modifications and cancer
- Effects of Environmental Stressors on Livestock
- Chronic Kidney Disease and Diabetes
- Cerebrovascular and genetic disorders
- Sepsis Diagnosis and Treatment
- Gene expression and cancer classification
- Ion channel regulation and function
- melanin and skin pigmentation
- Bioinformatics and Genomic Networks
- Chromosomal and Genetic Variations
- Chromium effects and bioremediation
- interferon and immune responses
- Genetic factors in colorectal cancer
- Hedgehog Signaling Pathway Studies
- Receptor Mechanisms and Signaling
- Genetic Syndromes and Imprinting
Universidade Federal do Rio Grande do Sul
2018-2022
Universidade Federal do Rio Grande
2021-2022
Estácio (Brazil)
2022
Hospital de Clínicas de Porto Alegre
2021
State University of Norte Fluminense
2018-2020
Universidade do Estado do Rio de Janeiro
2020
Universidade Federal de Santa Catarina
2010
Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence 1:15,000 to 1:50,000 live births. To better understand etiology CdCs at molecular level, we investigated theprotein–protein interaction (PPI) network within critical chromosomal region 5p15.3–p15.2 associated using systemsbiology. Data were extracted from cytogenomic findings patients CdCs. Based on clinical findings, characterization rearrangements, and systems biology data, explored possible...
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion involving variable size deletions. In this study, we perform cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence situ hybridization (FISH), chromosomal microarray (CMA), and systems biology strategies, to establish profile critical suggest WHS-related intracellular cell signaling cascades. The clinical patient profiles were evaluated. We...
Ring chromosome 20 (r20) is characterized by intellectual impairment, behavioral disorders, and refractory epilepsy. We report a patient presenting nonmosaic ring followed duplication deletion in 20q13.33 with seizures, delayed neuropsychomotor development language, mild hypotonia, low weight gain, cognitive deficit. Chromosomal microarray analysis (CMA) enabled us to restrict chromosomal segment thus integrate clinical molecular data systems biology. With this approach, we were able...
In this report, we present a patient with brain alterations and dysmorphic features associated chromosome duplication seen in Wolf-Hirschhorn syndrome (WHS), chromosomal deletions critical region responsible for Cri-du-chat Syndrome (CdCS). Chromosomal Microarray Analysis (CMA) revealed 41.1 Mb encompassing the band region, 4p16.3-p13, 14.7 deletion located between bands, 5p15.33-p15.1. The patient's clinical findings overlap previously reported cases of 4p CdCS. symptoms are notably similar...
Context The in vivo evaluation of body tissue development on meat production sheep can be used both to identify and select animals with the best characteristics make choices regarding marketing products these animals. Aims objective this work was evaluate, using computed tomography, dynamics composition male female Santa Inês vivo. Methods carcass by tomography 38 (21 17 female) performed after weaning, at ages 90, 120, 180 300 days. Based Cavalieri method, regression equations were...
IntroductionIn 2002, the Surviving Sepsis Campaign defi ned a strategy that aimed to reduce high mortality due sepsis.One point of this was recommendation recognize sepsis is frequent cause death and economic costs in pediatric intensive care unit.Knowledge disease fi rst step impact it.There are few studies on epidemiology world none Colombia.Hypothesis The epidemiological features Colombian children diff erent from other countries.Methods We constructed website where 14 units across...
Microdeletion syndromes (MSs) are a heterogeneous group of genetic diseases that can virtually affect all functions and organs in humans. Although systems biology approaches integrating multiomics database information into biological networks have expanded our knowledge disorders, cytogenomic network-based analysis has rarely been applied to study MSs. In this study, we analyzed data 28 MSs, using approaches, investigate the associations between critical chromosome regions respective...
Este estudo objetivou investigar a variabilidade genética em dois loci do gene MC1R associados à cor de pelagem ovinos Santa Inês. Pelos foram coletados da cauda 121 animais com diferentes pigmentações. A genotipagem foi realizada por PCR RFLP enzimas restrição (NlaIII e BmgBI). As frequências alélicas genotípicas esperadas no equilíbrio Hardy-Weinberg verificadas programa GENEPOP, diversidade genética, ARLEQUIN. Os fragmentos observados locus Nla1-MC1R apresentaram 46, 110 134 pb,...
Deletions in the 4p16.3 region cause Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion involving variable size deletions. This study aimed to perform interaction network analysis within WHS critical and stablish cytogenomic profile of chromosome rearrangements regions. 16 samples from individuals with clinical indication were retrospectively analyzed which 11 had cytogenetic visible 5 submicroscopic not previously identified. Using FISH, chromosomal microarray analysis, WGS WES, we...
The 8p23.1 duplication syndrome is a rare condition, characterized by dysmorphisms, intellectual disability, congenital cardiac anomalies, and autism spectrum disorder (ASD). current model for explaining the pathogenesis of this condition postulates that few dosage-sensitive genes within are sufficient core clinical features, although molecular mechanisms leading to ASD presentation remain be solved. Herein, we described cytomolecular findings an in boy with mild facial anomalies ASD....
Chromosomal duplications are associated with a large group of human diseases that arise mainly from dosage imbalance genes within the rearrangements. Phenotypes range widely but often global development delay, intellectual disability, autism spectrum disorders, and multiple congenital abnormalities. How different contiguous duplicated genomic region interact dynamically affect expression each other remains unclear in most cases. Here, we report comparative delineation located chromosomal...