Vincent El Ghouzzi
Vincent El Ghouzzi
Group Leader / Team 2 NeuroDev at INSERM UMR1141- Paris University
Verified email at
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Mutations of the TWIST gene in the Saethre-Chotzen syndrome
V El Ghouzzi, M Le Merrer, F Perrin-Schmitt, E Lajeunie, P Benit, D Renier, ...
Nature genetics 15 (1), 42, 1997
Missense FGFR3 Mutations Create Cysteine Residues in Thanatophoric Dwarfism Type I (TD1)
F Rousseau, V El Ghouzzi, AL Delezoide, L Legeai-Mallet, M Le Merrer, ...
Human molecular genetics 5 (4), 509-512, 1996
Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions
JJ Briere, J Favier, P Benit, VE Ghouzzi, A Lorenzato, D Rabier, ...
Human molecular genetics 14 (21), 3263-3269, 2005
Stem cell therapy for neonatal brain injury: perspectives and challenges
L Titomanlio, A Kavelaars, J Dalous, S Mani, V El Ghouzzi, C Heijnen, ...
Annals of neurology 70 (5), 698-712, 2011
Clinical variability in patients with Apert's syndrome
E Lajeunie, R Cameron, V El Ghouzzi, N de Parseval, P Journeau, ...
Journal of neurosurgery 90 (3), 443-447, 1999
A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24
XJ de Mollerat, F Gurrieri, CT Morgan, E Sangiorgi, DB Everman, ...
Human molecular genetics 12 (16), 1959-1971, 2003
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
E Lajeunie, S Heuertz, V El Ghouzzi, J Martinovic, D Renier, M Le Merrer, ...
European Journal of Human Genetics 14 (3), 289-298, 2006
Craniosynostosis and fetal exposure to sodium valproate
E Lajeunie, U Barcik, JA Thorne, V El Ghouzzi, M Bourgeois, D Renier
Journal of neurosurgery 95 (5), 778-782, 2001
Saethre–Chotzen mutations cause TWIST protein degradation or impaired nuclear location
V El Ghouzzi, L Legeai-Mallet, S Aresta, C Benoist, A Munnich, ...
Human molecular genetics 9 (5), 813-819, 2000
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation
E Lajeunie, V El Ghouzzi, M Le Merrer, A Munnich, J Bonaventure, ...
Journal of medical genetics 36 (1), 9-13, 1999
Succinate dehydrogenase deficiency in human
JJ Brière, J Favier, VE Ghouzzi, F Djouadi, P Benit, AP Gimenez, P Rustin
Cellular and Molecular Life Sciences CMLS 62 (19-20), 2317-2324, 2005
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)
L de Pontual, V Népote, T Attie-Bitach, H Al Halabiah, H Trang, ...
Human molecular genetics 12 (23), 3173-3180, 2003
Twist haploinsufficiency in Saethre–Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFα expression and caspase-2 activation
M Yousfi, F Lasmoles, V El Ghouzzi, PJ Marie
Human molecular genetics 11 (4), 359-369, 2002
Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome
V El Ghouzzi, E Lajeunie, M Le Merrer, V Cormier-Daire, D Renier, ...
European Journal of Human Genetics 7 (1), 27-33, 1999
Mutations in the basic domain and the loop–helix II junction of TWIST abolish DNA binding in Saethre–Chotzen syndrome
V El Ghouzzi, L Legeai-Mallet, C Benoist-Lasselin, E Lajeunie, D Renier, ...
FEBS letters 492 (1-2), 112-118, 2001
ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly
V El Ghouzzi, FT Bianchi, I Molineris, BC Mounce, GE Berto, M Rak, ...
Cell death & disease 7 (10), e2440, 2016
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve–Melchior–Clausen syndrome
V El Ghouzzi, N Dagoneau, E Kinning, C Thauvin-Robinet, W Chemaitilly, ...
Human Molecular Genetics 12 (3), 357-364, 2003
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome
D Renier, V El Ghouzzi, J Bonaventure, M Le Merrer, E Lajeunie
Journal of neurosurgery 92 (4), 631-636, 2000
Molecular and cellular bases of syndromic craniosynostoses
J Bonaventure, V El Ghouzzi
Expert reviews in molecular medicine 5 (4), 1, 2003
Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive multifocal neuropathology
V El Ghouzzi, Z Csaba, P Olivier, B Lelouvier, L Schwendimann, ...
Journal of Neuropathology & Experimental Neurology 66 (9), 838-847, 2007
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