Isabelle Perrault
AuthID: R-00F-EA1
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TÃTULO: AON-mediated exon skipping restores ciliation in fibroblasts harboring the common Leber congenital amaurosis CEP290 mutation.
AUTORES: Xavier Gerard; Isabelle Perrault; Sylvain Hanein; Eduardo Silva ; Karine Bigot; Sabine Defoort Delhemmes; Marlene Rio; Arnold Munnich; Daniel Scherman; Josseline Kaplan; Antoine Kichler; Jean Michel Rozet;
PUBLICAÇÃO: 2012, FONTE: Collaborative Congress of the European-Society-of-Gene-and-Cell-Therapy/French-Society-of-Cell-and-Gene-Therapy in HUMAN GENE THERAPY, VOLUME: 23, NÚMERO: 10
AUTORES: Xavier Gerard; Isabelle Perrault; Sylvain Hanein; Eduardo Silva ; Karine Bigot; Sabine Defoort Delhemmes; Marlene Rio; Arnold Munnich; Daniel Scherman; Josseline Kaplan; Antoine Kichler; Jean Michel Rozet;
PUBLICAÇÃO: 2012, FONTE: Collaborative Congress of the European-Society-of-Gene-and-Cell-Therapy/French-Society-of-Cell-and-Gene-Therapy in HUMAN GENE THERAPY, VOLUME: 23, NÚMERO: 10
INDEXADO EM: 
WOS
WOS2
TÃTULO: Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy Full Text
AUTORES: Isabelle Perrault; Sylvain Hanein; Xavier Zanlonghi; Valerie Serre; Michael Nicouleau; Sabine Defoort Delhemmes; Nathalie Delphin; Lucas Fares Taie; Sylvie Gerber; Olivia Xerri; Catherine Edelson; Alice Goldenberg; Alice Duncombe; Gylene Le Meur; Christian Hamel; Eduardo Silva ; Patrick Nitschke; Patrick Calvas; Arnold Munnich; Olivier Roche; ...Mais
PUBLICAÇÃO: 2012, FONTE: NATURE GENETICS, VOLUME: 44, NÚMERO: 9
AUTORES: Isabelle Perrault; Sylvain Hanein; Xavier Zanlonghi; Valerie Serre; Michael Nicouleau; Sabine Defoort Delhemmes; Nathalie Delphin; Lucas Fares Taie; Sylvie Gerber; Olivia Xerri; Catherine Edelson; Alice Goldenberg; Alice Duncombe; Gylene Le Meur; Christian Hamel; Eduardo Silva ; Patrick Nitschke; Patrick Calvas; Arnold Munnich; Olivier Roche; ...Mais
PUBLICAÇÃO: 2012, FONTE: NATURE GENETICS, VOLUME: 44, NÚMERO: 9
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TÃTULO: Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
AUTORES: Isabelle Perrault; Sophie Saunier; Sylvain Hanein; Emilie Filhol; Albane A Bizet; Felicity Collins; Mustafa A M Salih; Sylvie Gerber; Nathalie Delphin; Karine Bigot; Christophe Orssaud; Eduardo Silva; Veronique Baudouin; Machteld M Oud; Nora Shannon; Martine Le Merrer; Olivier Roche; Christine Pietrement; Jamal Goumid; Clarisse Baumann; ...Mais
PUBLICAÇÃO: 2012, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, NÚMERO: 5
AUTORES: Isabelle Perrault; Sophie Saunier; Sylvain Hanein; Emilie Filhol; Albane A Bizet; Felicity Collins; Mustafa A M Salih; Sylvie Gerber; Nathalie Delphin; Karine Bigot; Christophe Orssaud; Eduardo Silva; Veronique Baudouin; Machteld M Oud; Nora Shannon; Martine Le Merrer; Olivier Roche; Christine Pietrement; Jamal Goumid; Clarisse Baumann; ...Mais
PUBLICAÇÃO: 2012, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, NÚMERO: 5
4
TÃTULO: Antisense Oligonucleotide-Mediated Exon Skipping Restores Primary Cilia Assembly in Fibroblasts Harbouring the Common Leber Congenital Amaurosis CEP290 Mutation
AUTORES: Xavier Gerard; Isabelle Perrault; Sylvain Hanein; Eduardo Silva; Karine Bigot; Sabine Defoort Delhemmes; Marlene Rio; Arnold Munnich; Daniel Scherman; Josseline Kaplan; Antoine Kichler; Jean Michel Rozet;
PUBLICAÇÃO: 2012, FONTE: 15th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT) in MOLECULAR THERAPY, VOLUME: 20
AUTORES: Xavier Gerard; Isabelle Perrault; Sylvain Hanein; Eduardo Silva; Karine Bigot; Sabine Defoort Delhemmes; Marlene Rio; Arnold Munnich; Daniel Scherman; Josseline Kaplan; Antoine Kichler; Jean Michel Rozet;
PUBLICAÇÃO: 2012, FONTE: 15th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT) in MOLECULAR THERAPY, VOLUME: 20
INDEXADO EM: WOS
WOS5
TÃTULO: Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis Full Text
AUTORES: Hanein, S; Perrault, I; Gerber, S; Tanguy, G; Barbet, F; Ducroq, D; Calvas, P; Dollfus, H; Hamel, C; Lopponen, T; Munier, F; Santos, L; Shalev, S; Zafeiriou, D; Dufier, JL; Munnich, A; Rozet, JM; Kaplan, J;
PUBLICAÇÃO: 2004, FONTE: HUMAN MUTATION, VOLUME: 23, NÚMERO: 4
AUTORES: Hanein, S; Perrault, I; Gerber, S; Tanguy, G; Barbet, F; Ducroq, D; Calvas, P; Dollfus, H; Hamel, C; Lopponen, T; Munier, F; Santos, L; Shalev, S; Zafeiriou, D; Dufier, JL; Munnich, A; Rozet, JM; Kaplan, J;
PUBLICAÇÃO: 2004, FONTE: HUMAN MUTATION, VOLUME: 23, NÚMERO: 4
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TÃTULO: The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition Full Text
AUTORES: Gerber, S; Rozet, JM; Takezawa, SI; dos Santos, LC; Lopes, L; Gribouval, O; Penet, C; Perrault, I; Ducroq, D; Souied, E; Jeanpierre, M; Romana, S; Frezal, J; Ferraz, F; Yu Umesono, R; Munnich, A; Kaplan, J;
PUBLICAÇÃO: 2000, FONTE: HUMAN GENETICS, VOLUME: 107, NÚMERO: 3
AUTORES: Gerber, S; Rozet, JM; Takezawa, SI; dos Santos, LC; Lopes, L; Gribouval, O; Penet, C; Perrault, I; Ducroq, D; Souied, E; Jeanpierre, M; Romana, S; Frezal, J; Ferraz, F; Yu Umesono, R; Munnich, A; Kaplan, J;
PUBLICAÇÃO: 2000, FONTE: HUMAN GENETICS, VOLUME: 107, NÚMERO: 3
INDEXADO EM: WOS 
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