A5004610602- Reproductive Biology and Fertility
- Prenatal Screening and Diagnostics
- Assisted Reproductive Technology and Twin Pregnancy
- Gut microbiota and health
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Diet and metabolism studies
- Clostridium difficile and Clostridium perfringens research
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Dental Health and Care Utilization
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Reproductive Health and Technologies
- Genetics and Neurodevelopmental Disorders
- Congenital Anomalies and Fetal Surgery
- Pluripotent Stem Cells Research
- Oral microbiology and periodontitis research
- Congenital heart defects research
- Autism Spectrum Disorder Research
- Sperm and Testicular Function
Consejo Nacional de Investigaciones Científicas y Técnicas
2015-2016
Indear (Argentina)
2015
Introduction Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where evaluated usefulness Whole Genome Sequencing (WGS) diagnostic approach ASD. Methods We identified a family segregating in an unidentified cause. performed WGS probands and used state-of-the-art comprehensive bioinformatic analysis pipeline prioritized variants located genes likely related...
The human microbiota is the collection of microorganisms living in or on body. An imbalance dysbiosis these microbial communities can be associated with a wide variety diseases (Petersen and Round, 2014; Pham Lawley, Zaura et al., 2014). Moreover, when same body sites compared between different healthy individuals, specific community features are apparent (Li 2012; Yatsunenko Oh Relman, 2015). In addition, selective pressures found at distinct leading to patterns structure composition...
Objective: To present the development of first custom gene panel for diagnosis male and female infertility in Latin America.Methods: We developed a next-generation sequencing (NGS) that assesses genes associated with infertility.The targeted exons their flanking regions.Selected introns CFTR were also included.The FMR1 Y chromosome microdeletions analyzed other recommended methodologies.An inhouse bioinformatic pipeline was applied interpretation results.Clear phenotypes, idiopathic...
NKX2-5 is a homeodomain transcription factor that plays crucial role in heart development. It the first gene where single genetic variant (GV) was found to be associated with congenital diseases humans. In this study, we carried out comprehensive survey of GVs build unified, curated, and updated compilation all available GVs. We retrieved total 1,380 unique From these, 970 had information on their frequency general population 143 have been linked pathogenic phenotypes vitro effect...
Here we present the first dataset based on human microbiota samples of an urban middle-income population in South America. We characterized six different body habitats: palatine tonsils, saliva, buccal mucosa, throat, anterior nares and gut from healthy individual living a metropolitan area Argentina. Our initial findings revealed differences structure composition microbial communities compared to US population. By sharing our data, want actively encourage its reuse for comparison purposes....