Caterina Fazzi
Biographic Data
| ID | 7952304 |
|---|---|
| NAME | Caterina Fazzi |
| GIVEN NAMES | Caterina |
| FAMILY NAME | Fazzi |
| SIGNATURE | FAZZI C |
| AFFILIATIONS | University of Edinburgh |
| ORCID | 0000-0003-1820-9577 |
| VERIFIED | Yes |
| TOTAL WORKS | 2 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 2 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2021 |
| LATEST PUBLICATION YEAR | 2023 |
| H-INDEX | 0 |
Natural Course of Iqsec2-Related Encephalopathy
Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 ( IQSEC2 ) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous system (CNS) manifestations for the Italian IQSEC2 population (>90%) by using structured family interviews and semi-quantitative questionnaires. IQSEC2 encephalopathy…
Options in Pregnancy to Increase ActiveLy Sitting (Opals) Feasibility Study
Empowering, and involving morbidly obese pregnant women in taking care of themselves and giving them realistic tasks to do on their own and around their environment helps to increase commitment, as does avoiding the effect of their own weight whilst exercising. A 20% of compliance was observed in this study, which might be explained by the difficulties that pregnancy and excess weight mean. Thus, for future studies, we suggest adding a supervisio…
No prominent works on this page.
Options in Pregnancy to Increase ActiveLy Sitting (Opals) Feasibility Study
Empowering, and involving morbidly obese pregnant women in taking care of themselves and giving them realistic tasks to do on their own and around their environment helps to increase commitment, as does avoiding the effect of their own weight whilst exercising. A 20% of compliance was observed in this study, which might be explained by the difficulties that pregnancy and excess weight mean. Thus, for future studies, we suggest adding a supervisio…
Natural Course of Iqsec2-Related Encephalopathy
Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 ( IQSEC2 ) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous system (CNS) manifestations for the Italian IQSEC2 population (>90%) by using structured family interviews and semi-quantitative questionnaires. IQSEC2 encephalopathy…
Medicine (2 works) · Autism Spectrum Disorder Research (1 work) · Cerebral palsy (1 work) · Cognition (1 work) · Encephalopathy (1 work) · Epilepsy (1 work) · Genetics and Neurodevelopmental Disorders (1 work) · Genomic variations and chromosomal abnormalities (1 work) · Gestation (1 work) · Gestational Diabetes Research and Management (1 work)