T Bienvenu
Hôpital Cochin(FR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Neonatal Respiratory Health Research, Cystic Fibrosis Research Advances, Ubiquitin and proteasome pathways, Tracheal and airway disorders
Most-Cited Works
- → Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation(1998)551 cited
- → A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation(1999)296 cited
- → Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24(1997)38 cited
- → Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.(1993)5 cited
- Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family.(1998)
- Two novel cases of congenital variant of Rett syndrome related to mutations in the FOXG1 gene(2009)
- Mutation analysis of doublecortin, lis 1 and ARX in syndromal forms of mental retardation associated with cortical dysgenesis(2004)
- → Homozygous deletion of the DPY19L2 gene as a major genetic cause of globozoospermia: a case report from Senegal(2025)
- → WS17.2 Identification of CF mutations in deep intronic regions: Design of antisense oligonucleotides for a targeted therapeutic approach(2015)
- De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features(2019)