Risultati della ricerca - Anne‐Françoise Roux

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  1. 1
    Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

    Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of abov... di Anne‐Françoise Roux

    Pubblicazione 2006
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  2. 2
    A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

    A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? di Nathalie Pallares‐Ruiz, Patricia Blanchet, Michel Mondain, Mireille Claustres, Anne‐Françoise Roux

    Pubblicazione 2002
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  3. 3
    Functional characterization of G-protein-coupled receptors: A bioinformatics approach

    Functional characterization of G-protein-coupled receptors: A bioinformatics approach di Luciana Tovo‐Rodrigues, Anne‐Françoise Roux, Mara Helena Hutz, Luís Augusto Rohde, Amina S. Woods

    Pubblicazione 2014
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  4. 4
    Assessment of the latest NGS enrichment capture methods in clinical context

    Assessment of the latest NGS enrichment capture methods in clinical context di Gema García‐García, David Baux, Valérie Faugère, Mélody Moclyn, M. Kœnig, Mireille Claustres, Anne‐Françoise Roux

    Pubblicazione 2016
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  5. 5
    MobiDetails: online DNA variants interpretation

    MobiDetails: online DNA variants interpretation di David Baux, Charles Van Goethem, Olivier Ardouin, Thomas Guignard, Anne Bergougnoux, M. Kœnig, Anne‐Françoise Roux

    Pubblicazione 2020
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  6. 6
    Whole<i>USH2A</i>Gene Sequencing Identifies Several New Deep Intronic Mutations

    Whole<i>USH2A</i>Gene Sequencing Identifies Several New Deep Intronic Mutations di Alessandro Liquori, Christel Vaché, David Baux, Catherine Blanchet, Christian Hamel, Sue Malcolm, M. Kœnig, Mireille Claustres, Anne‐Françoise Roux

    Pubblicazione 2015
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  7. 7
    Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

    Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles di Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian P. Hamel, Isabelle Meunier, Anne‐Françoise Roux, Vasiliki Kalatzis

    Pubblicazione 2019
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  8. 8
    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing di Heather B. Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda Luxon, Mireille Claustres, Anne‐Françoise Roux, Andrew R. Webster, Maria Bitner‐Glindzicz

    Pubblicazione 2013
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  9. 9
    Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

    Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome di Claire Guissart, Xinrui Li, Bruno Leheup, Nathalie Drouot, B. Montaut-Verient, Emmanuel Raffo, P. Jonveaux, Anne‐Françoise Roux, Mireille Claustres, Larry Fliegel, M. Kœnig

    Pubblicazione 2014
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  10. 10
    Experience of targeted Usher exome sequencing as a clinical test

    Experience of targeted Usher exome sequencing as a clinical test di Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, José M. Millán, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux

    Pubblicazione 2013
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  11. 11
    Molecular epidemiology of DFNB1 deafness in France

    Molecular epidemiology of DFNB1 deafness in France di Anne‐Françoise Roux, Nathalie Pallares‐Ruiz, Anne Vielle, Valérie Faugère, Carine Templin, Dorothée Leprevost, Françoise Artières, Gérard Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain, Mireille Claustres

    Pubblicazione 2004
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  12. 12
    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots di David Baux, Catherine Blanchet, Christian Hamel, Isabelle Meunier, Lise Larrieu, Valérie Faugère, Christel Vaché, Pierangela Castorina, Bernard Puech, Dominique Bonneau, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux

    Pubblicazione 2014
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  13. 13
    HGVS Recommendations for the Description of Sequence Variants: 2016 Update

    HGVS Recommendations for the Description of Sequence Variants: 2016 Update di Johan T. den Dunnen, Raymond Dalgleish, Donna Maglott, Reece K. Hart, Marc S. Greenblatt, Jean McGowan‐Jordan, Anne‐Françoise Roux, Tim D. Smith, Stylianos E. Antonarakis, Peter E.M. Taschner

    Pubblicazione 2016
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  14. 14
    Targeted next generation sequencing for molecular diagnosis of Usher syndrome

    Targeted next generation sequencing for molecular diagnosis of Usher syndrome di María José Aparisi, Elena Aller, Carla Fuster‐García, Gema García‐García, Regina Rodrigo, Rafael P. Vázquez‐Manrique, Fiona Blanco‐Kelly, Carmen Ayuso, Anne‐Françoise Roux, Teresa Jaijo, José M. Millán

    Pubblicazione 2014
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  15. 15
    Non-USH2A mutations in USH2 patients

    Non-USH2A mutations in USH2 patients di Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet, Patrick Calvas, Christian Hamel, Hélène Dollfus, Geneviève Lina‐Granade, James Lespinasse, Albert David, Bertrand Isidor, G Morin, Sue Malcolm, Sylvie Tuffery‐Giraud, Mireille Claustres, Anne‐Françoise Roux

    Pubblicazione 2011
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  16. 16
    PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

    PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome di Inga Ebermann, Jennifer B. Phillips, Max C. Liebau, Robert K. Koenekoop, Bernhard Schermer, Irma López, Ellen Schäfer, Anne‐Françoise Roux, Claudia Dafinger, Antje Bernd, Eberhart Zrenner, Mireille Claustres, Bernardo Blanco, Gudrun Nürnberg, Peter Nürnberg, Rebecca Ruland, Monte Westerfield, Thomas Benzing, Hanno J. Bolz

    Pubblicazione 2010
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  17. 17
    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation di Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García‐García, Mireille Claustres, Lisette Hetterschijt, Theo Peters, Bas P. Hartel, Ronald J. E. Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob W.J. Collin, Hannie Kremer, Anne‐Françoise Roux, Erwin van Wijk

    Pubblicazione 2016
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  18. 18
    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect di Alisdair McNeill, Emanuela Iovino, Luke Mansard, Christel Vaché, David Baux, Emma Bedoukian, Helen Cox, John Dean, David Goudie, Ajith Kumar, Ruth Newbury‐Ecob, Chiara Fallerini, Alessandra Renieri, Diego Lopergolo, Francesca Mari, Catherine Blanchet, Marjolaine Willems, Anne‐Françoise Roux, Tommaso Pippucci, Eric Delpire

    Pubblicazione 2020
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  19. 19
    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation di Jean‐Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Guéguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, E. Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne‐Françoise Roux, Benjamin Cogné, David Baux

    Pubblicazione 2023
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  20. 20
    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients di David Baux, Christel Vaché, Christophe Blanchet, Marjolaine Willems, C. Baudoin, Mélodie Moclyn, Valérie Faugère, Renaud Touraine, Bertrand Isidor, Delphine Dupin‐Deguine, Mathilde Nizon, Marie Vincent, Sandra Mercier, C. Calais, Gema García‐García, Zohor A. Azher, Linda M. Lambert, Y. Perdomo-Trujillo, Fabienne Giuliano, Mireille Claustres, M. Kœnig, Michel Mondain, Anne‐Françoise Roux

    Pubblicazione 2017
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