Výsledky vyhledávání - Xavier Zanlonghi

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  1. 1
    <i>MERTK</i> mutation update in inherited retinal diseases

    <i>MERTK</i> mutation update in inherited retinal diseases Autor Isabelle Audo, Saddek Mohand‐Saïd, Élise Boulanger-Scemama, Xavier Zanlonghi, Christel Condroyer, Vanessa Démontant, Fiona Boyard, Aline Antonio, Cécile Méjécase, Saïd El Shamieh, José‐Alain Sahel, Christina Zeitz

    Vydáno 2018
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    Revisão
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  2. 2
    OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

    OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database Autor Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati‐Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Miléa, Johan T. den Dunnen, Pascal Reynier, Marc Ferré

    Vydáno 2019
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    Artigo
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  3. 3
    LIGHTSITE II Randomized Multicenter Trial: Evaluation of Multiwavelength Photobiomodulation in Non-exudative Age-Related Macular Degeneration

    LIGHTSITE II Randomized Multicenter Trial: Evaluation of Multiwavelength Photobiomodulation in Non-exudative Age-Related Macular Degeneration Autor Ben Burton, Maurízio Battaglia Parodi, Ignasi Jürgens, Xavier Zanlonghi, Dan Hornan, Johann Roider, Katrin Lorenz, Marion R. Munk, Cindy L. Croissant, Stephanie E. Tedford, Michael G. Walker, René Rückert, Clark E. Tedford

    Vydáno 2023
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    Artigo
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  4. 4
    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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    Artigo
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  5. 5
    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1 Autor Dominique Bonneau, Estelle Colin, Florine Oca, Marc Ferré, Arnaud Chevrollier, Naïg Guéguen, Valérie Desquiret‐Dumas, Sylvie Nguyen, Magalie Barth, Xavier Zanlonghi, Marlène Rio, Isabelle Desguerre, Christine Barnérias, Marta Momtchilova, Diana Rodriguez, Abdelhamid Slama, Guy Lenaers, Vincent Procaccio, Patrizia Amati‐Bonneau, Pascal Reynier

    Vydáno 2014
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    Carta
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  6. 6
    Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

    Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy Autor Camille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, Marie O. Péquignot, Fenna Hensen, Mélanie Quilès, Gaël Manès, Arka Chakraborty, Audrey Sénéćhal, Béatrice Bocquet, Chantal Cazevieille, Agathe Roubertie, Agnès Müller, Majida Charif, David Goudenège, Guy Lenaers, Helmut Wilhelm, Ulrich Kellner, Nicole Weisschuh, Bernd Wissinger, Xavier Zanlonghi, Christian Hamel, Johannes N. Spelbrink, Marı́a Solà, Cécile Delettre

    Vydáno 2019
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    Artigo
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  7. 7
    Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

    Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness Autor Christina Zeitz, Samuel G. Jacobson, Christian Hamel, Kinga M. Bujakowska, Marion Neuillé, Elise Orhan, Xavier Zanlonghi, Marie‐Elise Lancelot, Christelle Michiels, Sharon Schwartz, Béatrice Bocquet, Aline Antonio, Claire Audier, Mélanie Letexier, Jean‐Paul Saraiva, Tien D. Luu, Florian Sennlaub, Hoan Nguyen, Olivier Poch, Hélène Dollfus, Odile Lecompte, Susanne Kohl, José‐Alain Sahel, Shomi S. Bhattacharya, Isabelle Audo

    Vydáno 2012
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    Artigo
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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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    Artigo
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  9. 9
    Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

    Mutations in IMPG1 Cause Vitelliform Macular Dystrophies Autor Gaël Manès, Isabelle Meunier, Almudena Ávila‐Fernández, Sandro Banfi, Guylène Le Meur, Xavier Zanlonghi, Marta Cortón, Francesca Simonelli, Philippe Brabet, Gilles Labesse, Isabelle Audo, Saddek Mohand‐Saïd, Christina Zeitz, José‐Alain Sahel, Michel Weber, Hélène Dollfus, Claire‐Marie Dhaenens, Delphine Allorge, Elfride De Baere, Robert K. Koenekoop, Susanne Kohl, Frans P.M. Cremers, Joe G. Hollyfield, Audrey Sénéćhal, Maxime Hebrard, Béatrice Bocquet, Carmen Ayuso, Christian P. Hamel

    Vydáno 2013
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    Artigo
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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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    Artigo
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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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    Artigo
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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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