Vincent El Ghouzzi

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

Vincent El Ghouzzi, M Le Merrer, Fabienne Perrin‐Schmitt et al. · Nature Genetics · 1997 · 642 citations

Mendelian Disorder, Genetic Disorder, Genetics +4

Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

Jean-Jacques Brière, Judith Favier, Paule Bénit et al. · Human Molecular Genetics · 2005 · 150 citations · Full text

Molecular Biology, Pathology, Mitochondrial Biology +20

Clinical variability in patients with Apert's syndrome

Elisabeth Lajeunie, Rhoda Cameron, Vincent El Ghouzzi et al. · Journal of neurosurgery · 1999 · 135 citations

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

Vincent El Ghouzzi, F. Bianchi, Ivan Molineris et al. · Cell Death and Disease · 2016 · 127 citations · Full text

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

Elisabeth Lajeunie, S. Heuertz, Vincent El Ghouzzi et al. · European Journal of Human Genetics · 2006 · 124 citations · Full text

Developmental Anomaly, Mendelian Disorder, Scleroderma +11