Výsledky vyhledávání - Sabine Defoort

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  1. 1
    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 Autor 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

    Vydáno 2007
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  2. 2
    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 Autor 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

    Vydáno 2012
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  3. 3
    LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells

    LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells Autor Camille Sollier, Émilie Capel, C. Aguilhon, Vasily Smirnov, Martine Auclair, Claire Douillard, Miriam Ladsous, Sabine Defoort‐Dhellemmes, Jennifer Gorwood, Laura Braud, Roberto Motterlini, Camille Vatier, Olivier Lascols, Éric Renard, Corinne Vigouroux, Isabelle Jéru

    Vydáno 2020
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  4. 4
    Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort

    Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort Autor Vasily Smirnov, Marco Nassisi, Cyntia Solis Hernandez, Cécile Méjécase, Saïd El Shamieh, Christel Condroyer, Aline Antonio, Isabelle Meunier, Camille Andrieu, Sabine Defoort‐Dhellemmes, Saddek Mohand‐Saïd, José‐Alain Sahel, Isabelle Audo, Christina Zeitz

    Vydáno 2021
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  5. 5
    Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel<i>OPA1</i>mutations

    Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel<i>OPA1</i>mutations Autor Marc Ferré, Dominique Bonneau, Dan Miléa, Arnaud Chevrollier, Christophe Verny, Hélène Dollfus, Carmen Ayuso, Sabine Defoort, Catherine Vignal, Xavier Zanlonghi, Jean-François Charlin, Josseline Kaplan, Sylvie Odent, Christian P. Hamel, Vincent Procaccio, Pascal Reynier, Patrizia Amati‐Bonneau

    Vydáno 2009
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  6. 6
    Cost‐effective molecular inversion probe‐based <i>ABCA4</i> sequencing reveals deep‐intronic variants in Stargardt disease

    Cost‐effective molecular inversion probe‐based <i>ABCA4</i> sequencing reveals deep‐intronic variants in Stargardt disease Autor Mubeen Khan, Stéphanie S. Cornelis, Muhammad Imran Khan, Duaa Elmelik, Eline Manders, Sem Bakker, Ronny Derks, Kornelia Neveling, Maartje van de Vorst, Christian Gilissen, Isabelle Meunier, Sabine Defoort, Bernard Puech, Aurore Devos, H.L. Schulz, Heidi Stöhr, Felix Graßmann, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    Vydáno 2019
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  7. 7
    Mutations in TUBB4B Cause a Distinctive Sensorineural Disease

    Mutations in TUBB4B Cause a Distinctive Sensorineural Disease Autor Romain Luscan, Sabrina Méchaussier, Antoine Paul, Guoling Tian, Xavier Gérard, Sabine Defoort-Dellhemmes, Natalie Loundon, Isabelle Audo, Sophie Bonnin, Jean‐François LeGargasson, Julien Dumont, Nicolas Goudin, Meriem Garfa-Traoré, Marc Bras, Aurore Pouliet, Bettina Bessières, Nathalie Boddaert, José‐Alain Sahel, Stanislas Lyonnet, Josseline Kaplan, Nicholas J. Cowan, Jean‐Michel Rozet, Sandrine Marlin, Isabelle Perrault

    Vydáno 2017
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  8. 8
    Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

    Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy Autor Majida Charif, Arnaud Chevrollier, Naïg Guéguen, Céline Bris, David Goudenège, Valérie Desquiret‐Dumas, Stéphanie Leruez, Estelle Colin, Audrey Meunier, Catherine Vignal, Vasily Smirnov, Sabine Defoort‐Dhellemmes, Isabelle Drumare Bouvet, Cyril Goizet, Marcela Votruba, Neringa Jurkutė, Patrick Yu‐Wai‐Man, Fabrizio Tagliavini, Leonardo Caporali, Chiara La Morgia, Valério Carelli, Vincent Procaccio, Xavier Zanlonghi, Isabelle Meunier, Pascal Reynier, Dominique Bonneau, Patrizia Amati‐Bonneau, Guy Lenaers

    Vydáno 2020
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  9. 9
    TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

    TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness Autor Isabelle Audo, Susanne Kohl, Bart P. Leroy, Francis L. Munier, Xavier Guillonneau, Saddek Mohand‐Saïd, Kinga M. Bujakowska, Emeline F. Nandrot, Birgit Lorenz, Markus N. Preising, Ulrich Kellner, Agnes B. Renner, Antje Bernd, Aline Antonio, Veselina Moskova‐Doumanova, Marie‐Elise Lancelot, Charlotte M. Poloschek, Isabelle Drumare, Sabine Defoort‐Dhellemmes, Bernd Wissinger, Thierry Léveillard, Christian Hamel, Daniel F. Schorderet, Elfride De Baere, Wolfgang Berger, Samuel G. Jacobson, Eberhart Zrenner, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz

    Vydáno 2009
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  10. 10
    Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

    Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness Autor Ajoy Vincent, Isabelle Audo, Erika Tavares, Jason T. Maynes, Anupreet Tumber, Tom Wright, Shuning Li, Christelle Michiels, Christel Condroyer, H. Robson MacDonald, R Verdet, José‐Alain Sahel, Christian Hamel, Christina Zeitz, Elise Héon, Eyal Banin, Béatrice Bocquet, Elfride De Baere, Ingele Casteels, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Christoph Friedburg, Irène Gottlob, Samuel G. Jacobson, Ulrich Kellner, Robert K. Koenekoop, Susanne Kohl, Bart P. Leroy, Birgit Lorenz, Rebecca J. McLean, Françoise Meire, Isabelle Meunier, Francis L. Munier, Thomy de Ravel, Charlotte Reiff, Saddek Mohand‐Saïd, Dror Sharon, Daniel F. Schorderet, Sharon Schwartz, Xavier Zanlonghi

    Vydáno 2016
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  11. 11
    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands Autor Aude Rocatcher, Valérie Desquiret‐Dumas, Majida Charif, Marc Ferré, Philippe Gohier, Delphine Mirebeau‐Prunier, Christophe Verny, Dan Miléa, Guy Lenaers, Catherine Vignal, Cédric Lamirel, Rabih Hage, Hélène Dollfus, Isabelle Meunier, Xavier Zanlonghi, Valérie Touitou, Pierre Lebranchu, Sylvie Odent, Caroline Froment Tilikete, L. Jeanjean, Sabine Defoort‐Dhellemmes, Isabelle Drumare-Bouvet, Vasily Smirnov, Catherine Vincent-Delorme, Damien Biotti, Fanny Varenne, Patrick Calvas, Nicolas Chassaing, Mikaël Cohen, Christophe Orssaud, Fanny Mochel, Agathe Roubertie, Annick Toutain, Frédéric Pollet-Villard, Marie Noelle Bonnet Dupeyron, Céline Boulicot, Béatrice Cochener, Alice Goldenberg, Marie Line Jacquemont, Christine Francannet, Dominique Bonneau, Pascal Reynier, Patrizia Amati‐Bonneau

    Vydáno 2022
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  12. 12
    Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

    Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness Autor Isabelle Audo, Kinga M. Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie‐Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean‐Paul Saraiva, Bart P. Leroy, Francis L. Munier, Saddek Mohand‐Saïd, Birgit Lorenz, Christoph Friedburg, Markus N. Preising, Ulrich Kellner, Agnes B. Renner, Veselina Moskova‐Doumanova, Wolfgang Berger, Bernd Wissinger, Christian Hamel, Daniel F. Schorderet, Elfride De Baere, Dror Sharon, Eyal Banin, Samuel G. Jacobson, Dominique Bonneau, Xavier Zanlonghi, Guylène Le Meur, Ingele Casteels, Robert K. Koenekoop, Vernon Long, Françoise Meire, Katrina Prescott, Thomy de Ravel, Ian Simmons, Hoan Nguyen, Hélène Dollfus, Olivier Poch, Thierry Léveillard, Kim T. Nguyen-Ba-Charvet, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz

    Vydáno 2012
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  13. 13
    Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

    Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics Autor Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTabishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Ľubica Ďuďáková, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Christian Gilissen, Damjan Glavač, Michael B. Gorin, Jacquie Greenberg, Takaaki Hayashi, Ymkje M. Hettinga, Alexander Hoischen, Carel B. Hoyng, Karsten Hufendiek, Herbert Jägle, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Bohdan Kousal, Tina M. Lamey, Ian M. MacDonald, Anna Matynia, Terri L. McLaren, Marcela Mena, Isabelle Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, Monika Ołdak, Marc Pieterse, Osvaldo L. Podhajcer, Bernard Puech, Raj Ramesar, Klaus Rüther, Manar Salameh, Mariana Vallim Salles, Dror Sharon, Francesca Simonelli, Georg Spital, Marloes Steehouwer, Jacek P. Szaflik, Jennifer A. Thompson, C. Thuillier, Anna M. Tracewska, Martine van Zweeden, Andrea L. Vincent, Xavier Zanlonghi, Petra Lišková, Heidi Stöhr, John N. De Roach, Carmen Ayuso, Lisa Roberts, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    Vydáno 2019
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  14. 14
    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics Autor Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Ľubica Ďuďáková, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Christian Gilissen, Damjan Glavač, Michael B. Gorin, Jacquie Greenberg, Takaaki Hayashi, Ymkje M. Hettinga, Alexander Hoischen, Carel B. Hoyng, Karsten Hufendiek, Herbert Jägle, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Bohdan Kousal, Tina M. Lamey, Ian M. MacDonald, Anna Matynia, Terri L. McLaren, Marcela Mena, Isabelle Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, Monika Ołdak, Marc Pieterse, Osvaldo L. Podhajcer, Bernard Puech, Raj Ramesar, Klaus Rüther, Manar Salameh, Mariana Vallim Salles, Dror Sharon, Francesca Simonelli, Georg Spital, Marloes Steehouwer, Jacek P. Szaflik, Jennifer A. Thompson, C. Thuillier, Anna M. Tracewska, Martine van Zweeden, Andrea L. Vincent, Xavier Zanlonghi, Petra Lišková, Heidi Stöhr, John N. De Roach, Carmen Ayuso, Lisa Roberts, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    Vydáno 2020
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  15. 15
    Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

    Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study Autor Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera‐Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martín, Francis Warren, R. Scalco, Kathryn R. Wagner, Francesco Muntoni, Nicolas Deconinck, Irina Balikova, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Nathalie Goemans, Cathérine Cassiman, Lies Prové, Lisa Vancampenhout, M. van den Hauwe, Annelies Van Impe, C. Cancès, Vincent Soler, Lauriane Maillard De La Morandais, Delphine Vovan, Pascal Cintas, Françoise Auriol, Marianne Mus, Gwennaelle Alphonsa, Valerie Bellio, Olaia Gil Mato, Florence Flamein, Cécile Evrard, Amina Ziouche, Ikram Bouacha-Allou, Philippe Debruyne, Gilles Derlyn, Sabine Defoort, Florian Leroy, Loïc Danjoux, Isabelle Desguerre, Dominique Brémond‐Gignac, Maxence Rateuax, E. Deladrière, Carole Vuillerot, Quentin Veillerot, Bénédicte Sibille-Dabadi, Aurélie Barrière, Marie Tinat, Manel Saidi, Stéphanie Fontaine, Camille De Montferrand, Laure Le-Goff, Aurélie Portefaix, Ulrike Walther Louvier, Pierre-André Duval, Pascale Caradec, Souad Touati, Alberto Zamora Herranz, Janbernd Kirschner, Jan Bollig, Fanni Molnár, Sibylle Emilie Vogt, Astrid Pechmann, David Schorling, Sabine Wider, Heike Kölbel, Ulrike Schara, Frederik Braun, Andrea Gangfuß, Tim Hagenacker, Anja Eckstein, Dirk Dekowski, Michael Oeverhaus, M Stoehr, Bárbara Andres, Karin Smuda, Enrico Bertini, Adele D’Amico, Sergio Petroni, Paola Valente, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Marina Pedemonte, Noemi Brolatti, Enrico Priolo, Giuseppe Rao, Lorenza Sposetti, Simone Morando, Giacomo P. Comi, Silvia Osnaghi, Valeria Minorini

    Vydáno 2023
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