Sylvain Hanein
AuthID: R-00F-EA2
1
TITLE: Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study Full Text
AUTHORS: Fabienne Charbit Henrion; Marianna Parlato; Sylvain Hanein; Remi Duclaux Loras; Jan Nowak; Bernadette Begue; Sabine Rakotobe; Julie Bruneau; Cecile Fourrage; Olivier Alibeu; Frederic Rieux Laucat; Eva Levy; Marie Claude Stolzenberg; Fabienne Mazerolles; Sylvain Latour; Christelle Lenoir; Alain Fischer; Capucine Picard; Marina Aloi; Jorge Amil Dias; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF CROHNS & COLITIS, VOLUME: 12, ISSUE: 9
AUTHORS: Fabienne Charbit Henrion; Marianna Parlato; Sylvain Hanein; Remi Duclaux Loras; Jan Nowak; Bernadette Begue; Sabine Rakotobe; Julie Bruneau; Cecile Fourrage; Olivier Alibeu; Frederic Rieux Laucat; Eva Levy; Marie Claude Stolzenberg; Fabienne Mazerolles; Sylvain Latour; Christelle Lenoir; Alain Fischer; Capucine Picard; Marina Aloi; Jorge Amil Dias; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF CROHNS & COLITIS, VOLUME: 12, ISSUE: 9
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Copy number variations and founder effect underlying complete IL-10R beta deficiency in Portuguese kindreds Full Text
AUTHORS: Fabienne Charbit Henrion; Bernadette Begue; Anais Sierra; Sylvain Hanein; Marie Claude Stolzenberg; Zhi Li; Sandra Pellegrini; Nicolas Garcelon; Marc Jeanpierre; Benedicte Neven; Isabelle Loge; Capucine Picard; Jeremie Rosain; Jacinta Bustamante; Marc Le Lorc'h; Benedicte Pigneur; Alicia Fernandes; Frederic Rieux Laucat; Jorge Amil Dias; Frank M Ruemmele; ...More
PUBLISHED: 2018, SOURCE: PLOS ONE, VOLUME: 13, ISSUE: 10
AUTHORS: Fabienne Charbit Henrion; Bernadette Begue; Anais Sierra; Sylvain Hanein; Marie Claude Stolzenberg; Zhi Li; Sandra Pellegrini; Nicolas Garcelon; Marc Jeanpierre; Benedicte Neven; Isabelle Loge; Capucine Picard; Jeremie Rosain; Jacinta Bustamante; Marc Le Lorc'h; Benedicte Pigneur; Alicia Fernandes; Frederic Rieux Laucat; Jorge Amil Dias; Frank M Ruemmele; ...More
PUBLISHED: 2018, SOURCE: PLOS ONE, VOLUME: 13, ISSUE: 10
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
AUTHORS: Lucas Fares Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton Smith; Sylvain Hanein; Eduardo Silva ; Margaux Serey; Valerie Serre; Xavier Gerard; Clarisse Baumann; Ghislaine Plessis; Benedicte Demeer; Lionel Bretillon; Christine Bole; Patrick Nitschke; Arnold Munnich; Stanislas Lyonnet; Patrick Calvas; Josseline Kaplan; Nicola Ragge; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 2
AUTHORS: Lucas Fares Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton Smith; Sylvain Hanein; Eduardo Silva ; Margaux Serey; Valerie Serre; Xavier Gerard; Clarisse Baumann; Ghislaine Plessis; Benedicte Demeer; Lionel Bretillon; Christine Bole; Patrick Nitschke; Arnold Munnich; Stanislas Lyonnet; Patrick Calvas; Josseline Kaplan; Nicola Ragge; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 2
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
AUTHORS: Lucas Fares-Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton-Smith; Sylvain Hanein; Eduardo Silva; Margaux Serey; Valérie Serre; Xavier Gérard; Clarisse Baumann; Ghislaine Plessis; Bénédicte Demeer; Lionel Brétillon; Christine Bole; Patrick Nitschke; Arnold Munnich; Stanislas Lyonnet; Patrick Calvas; Josseline Kaplan; Nicola Ragge; ...More
PUBLISHED: 2013, SOURCE: The American Journal of Human Genetics, VOLUME: 92, ISSUE: 2
AUTHORS: Lucas Fares-Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton-Smith; Sylvain Hanein; Eduardo Silva; Margaux Serey; Valérie Serre; Xavier Gérard; Clarisse Baumann; Ghislaine Plessis; Bénédicte Demeer; Lionel Brétillon; Christine Bole; Patrick Nitschke; Arnold Munnich; Stanislas Lyonnet; Patrick Calvas; Josseline Kaplan; Nicola Ragge; ...More
PUBLISHED: 2013, SOURCE: The American Journal of Human Genetics, VOLUME: 92, ISSUE: 2
5
TITLE: AON-mediated exon skipping restores ciliation in fibroblasts harboring the common Leber congenital amaurosis CEP290 mutation.
AUTHORS: 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;
PUBLISHED: 2012, SOURCE: Collaborative Congress of the European-Society-of-Gene-and-Cell-Therapy/French-Society-of-Cell-and-Gene-Therapy in HUMAN GENE THERAPY, VOLUME: 23, ISSUE: 10
AUTHORS: 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;
PUBLISHED: 2012, SOURCE: Collaborative Congress of the European-Society-of-Gene-and-Cell-Therapy/French-Society-of-Cell-and-Gene-Therapy in HUMAN GENE THERAPY, VOLUME: 23, ISSUE: 10
INDEXED IN: WOS
WOS6
TITLE: Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy Full Text
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 9
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 9
7
TITLE: Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 5
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 5
8
TITLE: Antisense Oligonucleotide-Mediated Exon Skipping Restores Primary Cilia Assembly in Fibroblasts Harbouring the Common Leber Congenital Amaurosis CEP290 Mutation
AUTHORS: 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;
PUBLISHED: 2012, SOURCE: 15th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT) in MOLECULAR THERAPY, VOLUME: 20
AUTHORS: 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;
PUBLISHED: 2012, SOURCE: 15th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT) in MOLECULAR THERAPY, VOLUME: 20
INDEXED IN: WOS
WOS9
TITLE: 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
AUTHORS: 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;
PUBLISHED: 2004, SOURCE: HUMAN MUTATION, VOLUME: 23, ISSUE: 4
AUTHORS: 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;
PUBLISHED: 2004, SOURCE: HUMAN MUTATION, VOLUME: 23, ISSUE: 4
