A5042790814- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Autism Spectrum Disorder Research
- Congenital Anomalies and Fetal Surgery
- Biomedical and Engineering Education
- Amino Acid Enzymes and Metabolism
- Prenatal Screening and Diagnostics
- Epilepsy research and treatment
- Parvovirus B19 Infection Studies
- Body Composition Measurement Techniques
Children's National
2024-2025
Micro Focus (United States)
2023
Mitochondrial diseases are inherited disorders that impede the mitochondria's ability to produce sufficient energy for cells. They can affect different parts of body, notably brain. Neurological symptoms and epilepsy prevalent in patients with mitochondrial disorders. The epileptogenicity disorder is a complex process involving intricate interplay between abnormal metabolism neuronal activity. Several modalities have been used detect seizures including EEG serve as gold standard diagnosis...
Background: The human brain relies on complex synaptic communication regulated by key genes such as SYNGAP1. SYNGAP1 encodes the GTPase-Activating Protein (SYNGAP), a critical plasticity and neuronal excitability regulator. Impaired function leads to neurodevelopmental disorders (NDDs) characterized intellectual disability (ID), epilepsy, behavioral abnormalities. These variants disrupt Ras signaling, altering AMPA receptor transport contributing cognitive motor difficulties. Despite...
Abstract Monogenic disorders account for a large proportion of population-attributable risk neurodevelopmental disabilities. However, the data necessary to infer causal relationship between given genetic variant and particular disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual Developmental Disabilities Research Centers (IDDRCs) formed consortium create Brain Gene Registry (BGR), repository pairing clinical with phenotypic from participants variants in putative...
The availability of cell-free (cf) DNA as a prenatal screening tool affords an opportunity for non-invasive identification sex chromosome aneuploidy (SCA). aims this longitudinal study were to investigate the evolution and frequency both invasive diagnostic testing, using amniocentesis chorionic villus sampling (CVS), detection SCA in cfDNA samples from large unselected cohort Northern Italy.