Результати пошуку - Sylvain Hanein

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  1. 1
    Nuclear Outsourcing of RNA Interference Components to Human Mitochondria

    Nuclear Outsourcing of RNA Interference Components to Human Mitochondria за авторством Simonetta Bandiera, Silvia Rüberg, M Girard, Nicolas Cagnard, Sylvain Hanein, Dominique Chrétien, Arnold Münnich, Stanislas Lyonnet, Alexandra Henrion‐Caude

    Опубліковано 2011
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  2. 2
    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis за авторством Isabelle Perrault, Sylvain Hanein, S. Gerber, Fabienne Barbet, Dominique Ducroq, Hélène Dollfus, Christian Hamel, Jean‐Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean‐Michel Rozet

    Опубліковано 2004
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  3. 3
    Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

    Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype за авторством Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, S. Gerber, Jean‐Louis Dufier, Olivier Roche, Sabine Defoort‐Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    Опубліковано 2007
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  4. 4
    AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

    AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation за авторством Xavier Gérard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlène Rio, Arnold Münnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean‐Michel Rozet

    Опубліковано 2012
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  5. 5
    Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

    Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis за авторством S. Gerber, Isabelle Perrault, Sylvain Hanein, Fabienne Barbet, Dominique Ducroq, Imad Ghazi, Dominique Martin–Coignard, Corinne Leowski, Tessa Homfray, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    Опубліковано 2001
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  6. 6
    Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

    Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecula... за авторством Sylvain Hanein, Isabelle Perrault, S. Gerber, Gaëlle Tanguy, Fabienne Barbet, Dominique Ducroq, Patrick Calvas, Hélène Dollfus, Christian Hamel, Tuija Löppönen, Francis L. Munier, Louisa Santos, Stavit A. Shalev, Dimitrios Zafeiriou, Jean‐Louis Dufier, Arnold Munnich, Jean‐Michel Rozet, Josseline Kaplan

    Опубліковано 2004
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  7. 7
    Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

    Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome за авторством Sylvain Hanein, Elodie Martin, Amir Boukhris, P. Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola S. Denora, José Carlos Fernández Fernández, Nizar Elleuch, Sylvie Forlani, Alexandra Dürr, Imed Feki, Michael Hutchinson, Filippo M. Santorelli, Chokri Mhiri, Alexis Brice, Giovanni Stévanin

    Опубліковано 2008
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  8. 8
    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy за авторством Sylvain Hanein, Isabelle Perrault, Olivier Roche, S. Gerber, Noman Khadom, Marlène Rio, Nathalie Boddaert, Marc Jeanpierre, Nora Brahimi, Valérie Serre, Dominique Chrétien, Nathalie Delphin, Lucas Fares‐Taie, Sahran Lachheb, Agnès Rötig, Françoise Meire, Arnold Münnich, Jean‐Louis Dufier, Josseline Kaplan, Jean‐Michel Rozet

    Опубліковано 2009
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  9. 9
    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia за авторством Lucas Fares‐Taie, S. 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 Nitschké, Arnold Münnich, Stanislas Lyonnet, Patrick Calvas, Josseline Kaplan, Nicola Ragge, Jean‐Michel Rozet

    Опубліковано 2013
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  10. 10
    NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

    NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy за авторством Dorota Piekutowska‐Abramczuk, Zahra Assouline, Lavinija Mataković, René G. Feichtinger, Eliška Koňaříková, Elżbieta Jurkiewicz, Piotr Stawiński, Mirjana Gušić, Andreas Koller, Agnieszka Pollak, Piotr Gasperowicz, Joanna Trubicka, Elżbieta Ciara, Katarzyna Iwanicka‐Pronicka, Dariusz Rokicki, Sylvain Hanein, Saskia B. Wortmann, Wolfgang Sperl, Agnès Rötig, Holger Prokisch, Ewa Pronicka, Rafał Płoski, Giulia Barcia, Johannes A. Mayr

    Опубліковано 2018
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  11. 11
    De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

    De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene за авторством Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, Giulia Barcia, Ali Ahmad, Daniel Medina-Cano, Sylvain Hanein, Nami Altin, Laurence Hubert, Christine Bôle‐Feysot, Cécile Fourage, Patrick Nitschké, Julien Thévenon, Marlène Rio, Pierre Blanc, Céline Vidal, Nadia Bahi‐Buisson, Isabelle Desguerre, Arnold Münnich, Stanislas Lyonnet, Nathalie Boddaert, Emily Fassi, Marwan Shinawi, Holly H. Zimmerman, Jeanne Amiel, Laurence Faivre, Laurence Colleaux, Philippe Lory, Vincent Cantagrel

    Опубліковано 2018
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  12. 12
    Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa

    Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa за авторством Sabine Duchatelet, S. Miskinyte, M. Delage, Marie‐Noëlle Ungeheuer, Thi Lam, Farida Benhadou, V. del Mármol, Allard R.J.V. Vossen, Errol P. Prens, O. Cogrel, M. Beylot‐Barry, C. Girard, Julien Vidil, Olivier Join‐Lambert, Mélanie Parisot, Patrick Nitschké, Sylvain Hanein, Sylvie Fraitag, Hessel H. van der Zee, D. Bessis, Giovanni Damiani, Andrea Altomare, Yi‐Hua Liao, Georgios Nikolakis, Christos C. Zouboulis, Aude Nassif, Alain Hovnanian

    Опубліковано 2020
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  13. 13
    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations за авторством Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet, Felicity Collins, Mustafa A. Salih, S. Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silva, Véronique Baudouin, Machteld M. Oud, Nora Shannon, Martine Le Merrer, Olivier Roche, Christine Piétrement, Jamal Goumid, Clarisse Baumann, Christine Bôle‐Feysot, Patrick Nitschké, Mohammed Zahrate, Philip L. Beales, Heleen H. Arts, Arnold Münnich, Josseline Kaplan, Corinne Antignac, Valérie Cormier‐Daire, Jean‐Michel Rozet

    Опубліковано 2012
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  14. 14
    Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes

    Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes за авторством Jérôme Hadjadj, Nathalie Aladjidi, Helder Fernandes, Guy Leverger, Aude Magérus‐Chatinet, Fabienne Mazerolles, Marie–Claude Stolzenberg, Sidonie Jacques, Capucine Pïcard, Jérémie Rosain, Cécile Fourrage, Sylvain Hanein, Mohammed Zarhrate, Marlène Pasquet, Wadih Abou Chahla, Vincent Barlogis, Yves Bertrand, Isabelle Pellier, Elodie Colomb Bottollier, Fanny Fouyssac, Pascale Blouin, Caroline Thomas, Nathalie Cheikh, Éric Doré, Corinne Pondarré, Dominique Plantaz, Éric Jeziorski, Frédéric Millot, Nicolas Garcelon, Stéphane Ducassou, Yves Pérel, Thierry Leblanc, Bénédicte Neven, Alain Fischer, Frédéric Rieux‐Laucat

    Опубліковано 2019
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  15. 15
    Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

    Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas за авторством Élodie Bal, Hyun-Sook Park, Zakia Belaid-Choucair, Hülya Kayserili, Magali Naville, Marine Madrange, Elena Chiticariu, S. Hadj‐Rabia, Nicolas Cagnard, François Kuonen, Daniel Bachmann, Marcel Huber, Cindy Le Gall, Francine Côté, Sylvain Hanein, Rasim Özgür Rosti, Ayça Dilruba Aslanger, Quinten Waisfisz, Christine Bodemer, Olivier Hermine, Fanny Morice‐Picard, B. Labeille, F. Caux, J. Mazereeuw‐Hautier, Nicole Philip, Nicolas Lévy, Alain Taı̈eb, Marie-Françoise Avril, Denis J. Headon, Gàbor Gyapay, Thierry Magnaldo, Sylvie Fraitag, Hugues Roest Crollius, P. Vabres, Daniel Hohl, Arnold Münnich, Asma Smahi

    Опубліковано 2017
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  16. 16
    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders за авторством Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew Heiberg, Mostafa Abdellateef, Başak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hülya Kayserili, Jumana Y. Al‐Aama, Ghada M. H. Abdel‐Salam, Ariana Karminejad, Majdi Kara, Bülent Kara, Babak Bozorgmehri, Tawfeg Ben‐Omran, Faezeh Mojahedi, Iman G. Mahmoud, Naïma Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al‐Allawi, Parayil Sankaran Bindu, Matloob Azam, Murat Günel, Ahmet Okay Çağlayan, Kaya Bilgüvar, Aslıhan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily Spencer, Rasim Özgür Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Dürr, Alexis Brice, Giovanni Stévanin, Stacy Gabriel, Trey Ideker, Joseph G. Gleeson

    Опубліковано 2014
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  17. 17
    Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

    Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study за авторством Fabienne Charbit‐Henrion, Marianna Parlato, Sylvain Hanein, Rémi Duclaux‐Loras, Jan Krzysztof Nowak, Bernadette Bègue, Sabine Rakotobé, Julie Bruneau, Cécile Fourrage, Olivier Alibeu, Frédéric Rieux‐Laucat, E Lévy, Marie–Claude Stolzenberg, Fabienne Mazerolles, Sylvain Latour, Christelle Lenoir, Alain Fischer, Capucine Pïcard, Marina Aloi, Jorge Amil Dias, M. Ben Hariz, Anne Bourrier, Christian Breuer, Anne Breton, Jiri Bronsky, Stephan Buderus, Mara Cananzi, Stéphanie Coopman, Clara Crémilleux, A. Dabadie, Clémentine Dumant‐Forest, Ödül Eğritaş, Alexandre Fabre, Aude Fischer, Marta Díaz-Navarro, Yago González‐Lama, Olivier Goulet, Graziella Guariso, Neslihan Gurcan, Matjaž Homan, Jean‐Pierre Hugot, Éric Jeziorski, Evi Karanika, Alain Lachaux, Peter Lewindon, Rosa Lima, Fernando Magro, János Major, Georgia Malamut, Emmanuel Mas, István Máttyus, Luisa Mearin, Jan Melek, Víctor Manuel Navas‐López, Anders Pærregaard, C. Pélatan, Bénédicte Pigneur, Isabel Pinto Pais, Julie Rebeuh, Claudio Romano, Nadia Siala, Caterina Strisciuglio, Michela Tempia-Caliera, P. Tounian, Dan Turner, Vaidotas Urbonas, S. Willot, Frank M. Ruemmele, Nadine Cerf‐Bensussan

    Опубліковано 2018
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