Torthaí cuardaigh - Anne‐Françoise Roux

Beachtaigh na torthaí
  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... de réir Anne‐Françoise Roux

    Foilsithe / Cruthaithe 2006
    Faigh an téacs iomlán
    Carta
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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? de réir Nathalie Pallares‐Ruiz, Patricia Blanchet, Michel Mondain, Mireille Claustres, Anne‐Françoise Roux

    Foilsithe / Cruthaithe 2002
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  3. 3
    Functional characterization of G-protein-coupled receptors: A bioinformatics approach

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

    Foilsithe / Cruthaithe 2014
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  4. 4
    Assessment of the latest NGS enrichment capture methods in clinical context

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

    Foilsithe / Cruthaithe 2016
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  5. 5
    MobiDetails: online DNA variants interpretation

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

    Foilsithe / Cruthaithe 2020
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Alessandro Liquori, Christel Vaché, David Baux, Catherine Blanchet, Christian Hamel, Sue Malcolm, M. Kœnig, Mireille Claustres, Anne‐Françoise Roux

    Foilsithe / Cruthaithe 2015
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian P. Hamel, Isabelle Meunier, Anne‐Françoise Roux, Vasiliki Kalatzis

    Foilsithe / Cruthaithe 2019
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Heather B. Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda Luxon, Mireille Claustres, Anne‐Françoise Roux, Andrew R. Webster, Maria Bitner‐Glindzicz

    Foilsithe / Cruthaithe 2013
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Claire Guissart, Xinrui Li, Bruno Leheup, Nathalie Drouot, B. Montaut-Verient, Emmanuel Raffo, P. Jonveaux, Anne‐Françoise Roux, Mireille Claustres, Larry Fliegel, M. Kœnig

    Foilsithe / Cruthaithe 2014
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  10. 10
    Experience of targeted Usher exome sequencing as a clinical test

    Experience of targeted Usher exome sequencing as a clinical test de réir 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

    Foilsithe / Cruthaithe 2013
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  11. 11
    Molecular epidemiology of DFNB1 deafness in France

    Molecular epidemiology of DFNB1 deafness in France de réir 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

    Foilsithe / Cruthaithe 2004
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2014
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  13. 13
    HGVS Recommendations for the Description of Sequence Variants: 2016 Update

    HGVS Recommendations for the Description of Sequence Variants: 2016 Update de réir 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

    Foilsithe / Cruthaithe 2016
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  14. 14
    Targeted next generation sequencing for molecular diagnosis of Usher syndrome

    Targeted next generation sequencing for molecular diagnosis of Usher syndrome de réir 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

    Foilsithe / Cruthaithe 2014
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  15. 15
    Non-USH2A mutations in USH2 patients

    Non-USH2A mutations in USH2 patients de réir 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

    Foilsithe / Cruthaithe 2011
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2010
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2016
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  18. 18
    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect de réir 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

    Foilsithe / Cruthaithe 2020
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2023
    Faigh an téacs iomlán Faigh an téacs iomlán
    Revisão
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2017
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:

Uirlisí cuardaigh: