Clinical utility gene card for: Usher syndrome

od Bolz, Hanno J, Roux, Anne-Françoise
Izdano 2011

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

od Hoefsloot, Lies H, Roux, Anne-Françoise, Bitner-Glindzicz, Maria
Izdano 2013

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

od Le Guédard, Sandie, Faugère, Valérie, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Izdano 2007

First molecular screening of deafness in the Altai Republic population

od Posukh, Olga, Pallares-Ruiz, Nathalie, Tadinova, Vera, Osipova, Ludmila, Claustres, Mireille, Roux, Anne-Françoise
Izdano 2005

Assessment of the latest NGS enrichment capture methods in clinical context

od García-García, Gema, Baux, David, Faugère, Valérie, Moclyn, Mélody, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise
izdano v Sci Rep (2016)

Correction: MobiDetails: online DNA variants interpretation

od Baux, David, Van Goethem, Charles, Ardouin, Olivier, Guignard, Thomas, Bergougnoux, Anne, Koenig, Michel, Roux, Anne-Françoise
izdano v Eur J Hum Genet (2020)

MobiDetails: online DNA variants interpretation

od Baux, David, Van Goethem, Charles, Ardouin, Olivier, Guignard, Thomas, Bergougnoux, Anne, Koenig, Michel, Roux, Anne-Françoise
izdano v Eur J Hum Genet (2020)

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

od Sanjurjo-Soriano, Carla, Erkilic, Nejla, Baux, David, Mamaeva, Daria, Hamel, Christian P., Meunier, Isabelle, Roux, Anne-Françoise, Kalatzis, Vasiliki
izdano v Mol Ther Methods Clin Dev (2019)

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

od García-García, Gema, Besnard, Thomas, Baux, David, Vaché, Christel, Aller, Elena, Malcolm, Sue, Claustres, Mireille, Millan, Jose M., Roux, Anne-Françoise
Izdano 2013

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy

od Torriano, Simona, Erkilic, Nejla, Baux, David, Cereso, Nicolas, De Luca, Valerie, Meunier, Isabelle, Moosajee, Mariya, Roux, Anne-Francoise, Hamel, Christian P., Kalatzis, Vasiliki
izdano v Sci Rep (2018)

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

od Steele-Stallard, Heather B, Le Quesne Stabej, Polona, Lenassi, Eva, Luxon, Linda M, Claustres, Mireille, Roux, Anne-Francoise, Webster, Andrew R, Bitner-Glindzicz, Maria
Izdano 2013

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

od Aller, Elena, Larrieu, Lise, Jaijo, Teresa, Baux, David, Espinós, Carmen, González-Candelas, Fernando, Nájera, Carmen, Palau, Francesc, Claustres, Mireille, Roux, Anne-Françoise, Millán, José M
Izdano 2010

Experience of targeted Usher exome sequencing as a clinical test

od Besnard, Thomas, García-García, Gema, Baux, David, Vaché, Christel, Faugère, Valérie, Larrieu, Lise, Léonard, Susana, Millan, Jose M, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Izdano 2014

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

od García-García, Gema, Aller, Elena, Jaijo, Teresa, Aparisi, Maria J., Larrieu, Lise, Faugère, Valérie, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Francoise, Millán, José M.
Izdano 2014

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

od Sacristan-Reviriego, Almudena, Le, Hoang Mai, Georgiou, Michalis, Meunier, Isabelle, Bocquet, Beatrice, Roux, Anne-Françoise, Prodromou, Chrisostomos, Bainbridge, James, Michaelides, Michel, van der Spuy, Jacqueline
izdano v Sci Rep (2020)

Molecular epidemiology of DFNB1 deafness in France

od Roux, Anne-Françoise, Pallares-Ruiz, Nathalie, Vielle, Anne, Faugère, Valérie, Templin, Carine, Leprevost, Dorothée, Artières, Françoise, Lina, Geneviève, Molinari, Nicolas, Blanchet, Patricia, Mondain, Michel, Claustres, Mireille
Izdano 2004

Usher syndrome in Denmark: mutation spectrum and some clinical observations

od Dad, Shzeena, Rendtorff, Nanna Dahl, Tranebjærg, Lisbeth, Grønskov, Karen, Karstensen, Helena Gásdal, Brox, Vigdis, Nilssen, Øivind, Roux, Anne‐Françoise, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth Birk
izdano v Mol Genet Genomic Med (2016)

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

od Vaché, Christel, Puechberty, Jacques, Faugère, Valérie, Darmaisin, Floriane, Liquori, Alessandro, Baux, David, Blanchet, Catherine, Garcia-Garcia, Gema, Meunier, Isabelle, Pellestor, Franck, Koenig, Michel, Roux, Anne-Françoise
izdano v Front Genet (2020)

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

od Aparisi, María J, Aller, Elena, Fuster-García, Carla, García-García, Gema, Rodrigo, Regina, Vázquez-Manrique, Rafael P, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Françoise, Jaijo, Teresa, Millán, José M
izdano v Orphanet J Rare Dis (2014)

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus

od Girardet, Anne, Viart, Victoria, Plaza, Stéphanie, Daina, Gemma, De Rycke, Martine, Des Georges, Marie, Fiorentino, Francesco, Harton, Gary, Ishmukhametova, Aliya, Navarro, Joaquima, Raynal, Caroline, Renwick, Pamela, Saguet, Florielle, Schwarz, Martin, SenGupta, Sioban, Tzetis, Maria, Roux, Anne-Françoise, Claustres, Mireille
izdano v Eur J Hum Genet (2016)