A5071203474- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Neonatal Respiratory Health Research
- Diet, Metabolism, and Disease
- Extracellular vesicles in disease
- Congenital heart defects research
- Cancer-related molecular mechanisms research
- Cystic Fibrosis Research Advances
- Cardiovascular Function and Risk Factors
- Tracheal and airway disorders
- Prenatal Screening and Diagnostics
- MicroRNA in disease regulation
- Liver Disease Diagnosis and Treatment
Iuliu Hațieganu University of Medicine and Pharmacy
2019-2022
Victor Babeș University of Medicine and Pharmacy Timișoara
2021
Polytechnic University of Timişoara
2021
Abstract Background Obesity with developmental disability/intellectual disability (DD/ID) is the most common association in syndromic obesity. Genomic analysis studies have allowed decipherment of disease aetiology, both cases obesity as well isolated or DD/ID. However, more data are needed to further elucidate link between two. The aim this pangenomic study was use single nucleotide polymorphism (SNP) array technology determine copy number variant (CNV) type and frequency associated Methods...
Abstract Background Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age genetic etiology being often involved. The aim this study was to determine clinically relevant copy number variants patients diagnosed with global developmental delay/intellectual our using chromosomal microarray analysis. Methods We analyzed 189 disability, presented Clinical Emergency Hospital for Children, Cluj-Napoca. were...
Introduction. Although metabolic-dysfunction-associated fatty liver disease (MAFLD) is associated with an increased cardiovascular risk, MAFLD predisposing genetic variants were not steadily related to events. Therefore, we aimed assess whether membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) rs641738 variant risk in patients. Methods. We conducted observational cross-sectional study including 77 subjects (38 patients, 39 controls), between January-September 2020 using hepatic...
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Abstract Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population more often genetic etiology is proven. The aim this study was to determine clinically relevant copy number variants patients diagnosed with global developmental delay/intellectual our using technology SNP array. Material methods. We analyzed 189 GDD//ID, presented Clinical Emergency Hospital for Children Cluj-Napoca. were completely...