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FRESSART , Véronique

Last name: FRESSART

First name: Véronique

February 2021 (v1)

Journal article

Metadata-only

Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases

Rucheton, Benoit Ader, Flavie Goudenege, David

The molecular study of mitochondrial diseases, essential for diagnosis, is special due to the dual genetic origin of these pathologies: mitochondrial DNA and nuclear DNA. Complete mtDNA sequencing still remains the first line diagnostic test followed if negative, by resequencing panels of several hundred mitochondrially-encoded nuclear genes....

Uploaded on: April 14, 2023
2020 (v1)

Journal article

Metadata-only

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

Bordet, Celine Brice, Sandrine Maupain, Carole

Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using self-report questionnaires (including the State-Trait Anxiety Inventory) in 517 adults,...

Uploaded on: December 4, 2022