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Karine Bigot

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TOP 3
Isabelle Perrault; Christine Pietrement; Olivier Roche; Mustafa A M Salih; Sophie Saunier; Nora Shannon; Eduardo Silva; Mohammed Zahrate; Corinne Antignac; Heleen H Arts; Véronique Baudouin; Clarisse Baumann; Philip Beales; Karine Bigot; Albane A Bizet; Christine Bole-Feysot; Felicity Collins; Valérie Cormier-Daire; Nathalie Delphin; Emilie Filhol; Sylvie Gerber; Jamal Goumid; Sylvain Hanein; Josseline Kaplan; Martine Le Merrer; Arnold Munnich; Patrick Nitschke; Christophe Orssaud; Machteld M Oud; Jean-Michel Rozet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Xavier GERARD; Sylvain Hanein; Josseline Kaplan; Antoine Kichler; Arnold Munnich; Isabelle Perrault; Marlène Rio; Karine Bigot; Sabine Defoort-Delhemmes; Daniel Scherman; Eduardo Silva; Jean-Michel Rozet
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.
Emmanuelle Lacassagne; Aurore Dhuez; Florence Rigaudière; Anouk Dansault; Christelle Vêtu; Karine Bigot; Véronique Vieira; Bernard Puech; Sabine Defoort-Dhellemmes; marc Mordekhaï ABITBOL
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.

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All Publications

2012: Isabelle Perrault; Christine Pietrement; Olivier Roche; Mustafa A M Salih; Sophie Saunier; Nora Shannon; Eduardo Silva; Mohammed Zahrate; Corinne Antignac; Heleen H Arts; Véronique Baudouin; Clarisse Baumann; Philip Beales; Karine Bigot; Albane A Bizet; Christine Bole-Feysot; Felicity Collins; Valérie Cormier-Daire; Nathalie Delphin; Emilie Filhol; Sylvie Gerber; Jamal Goumid; Sylvain Hanein; Josseline Kaplan; Martine Le Merrer; Arnold Munnich; Patrick Nitschke; Christophe Orssaud; Machteld M Oud; Jean-Michel Rozet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
American journal of human genetics 2012;90(5):864-70.
2012: Xavier GERARD; Sylvain Hanein; Josseline Kaplan; Antoine Kichler; Arnold Munnich; Isabelle Perrault; Marlène Rio; Karine Bigot; Sabine Defoort-Delhemmes; Daniel Scherman; Eduardo Silva; Jean-Michel Rozet
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.
Molecular therapy. Nucleic acids 2012;1():e29.
2011: Emmanuelle Lacassagne; Aurore Dhuez; Florence Rigaudière; Anouk Dansault; Christelle Vêtu; Karine Bigot; Véronique Vieira; Bernard Puech; Sabine Defoort-Dhellemmes; marc Mordekhaï ABITBOL
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
Molecular vision 2011;17():309-22.
2009: Alexandra C Provost; Leonie Vede; Karine Bigot; Nicole Keller; Anne Tailleux; Jean-Philipe Jaïs; Michèle Savoldelli; Ilhame Ameqrane; Emmanuelle Lacassagne; Jean-Marc Legeais; Bart Staels; Maurice Menasche; Ziad Mallat; Francine Behar-Cohen; marc Mordekhaï ABITBOL
Morphologic and electroretinographic phenotype of SR-BI knockout mice after a long-term atherogenic diet.
Investigative ophthalmology & visual science 2009;50(8):3931-42.
2009: Carolina Jaliffa; Ilhame Ameqrane; Anouk Dansault; Julia Leemput; Véronique Vieira; Emmanuelle Lacassagne; Alexandra C Provost; Karine Bigot; Christel Masson; Maurice Menasche; marc Mordekhaï ABITBOL
Sirt1 involvement in rd10 mouse retinal degeneration.
Investigative ophthalmology & visual science 2009;50(8):3562-72.
2007: Dominique Claude Lelong; Ivan Bieche; Elodie Perez; Karine Bigot; Julia Leemput; Ingrid Laurendeau; Michel Vidaud; Jean-Philippe jais; Maurice Menasche; marc Mordekhaï ABITBOL
Novel mouse model of monocular amaurosis fugax.
Stroke; a journal of cerebral circulation 2007;38(12):3237-44.
2007: Dominique Marchant; K Yu; Karine Bigot; Olivier Roche; A Germain; Dominique Bonneau; Valérie Drouin-Garraud; Daniel F Schorderet; Francis Munier; D Schmidt; P Le Neindre; Cécile Marsac; Maurice Menasche; Jean-Louis Dufier; Rodolphe Fischmeister; H Criss Hartzell; marc Mordekhaï ABITBOL
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.
Journal of medical genetics 2007;44(3):e70.
2007: Anouk Dansault; Gabriel David; Claire Schwartz; Carolina Jaliffa; Véronique Vieira; Guillaume de la Houssaye; Karine Bigot; Françise Catin; Laurent Tattu; Catherine Chopin; Philippe Halimi; Olivier Roche; Nicole Van Regemorter; Francis Munier; Daniel F Schorderet; Jean-Louis Dufier; Cécile Marsac; Daniel Ricquier; Maurice Menasche; Alfred Penfornis; marc Mordekhaï ABITBOL
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Molecular vision 2007;13():511-23.