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Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Autor: Derrick, Christopher J, Szenker-Ravi, Emmanuelle, Santos-Ledo, Adrian, Alqahtani, Ahlam, Yusof, Amirah, Eley, Lorraine, Coleman, Alistair H L, Tohari, Sumanty, Ng, Alvin Yu-Jin, Venkatesh, Byrappa, Alharby, Essa, Mansard, Luke, Bonnet-Dupeyron, Marie-Noelle, Roux, Anne-Francoise, Vaché, Christel, Roume, Joëlle, Bouvagnet, Patrice, Almontashiri, Naif A M, Henderson, Deborah J, Reversade, Bruno

Publikováno v: Human Molecular Genetics; 1/15/2024, Vol. 33 Issue 2, p150-169, 20p

Validation of Nanopore long-read sequencing to resolve RPGRORF15 genotypes in individuals with X-linked retinitis pigmentosa

Autor: Vaché, Christel, Faugère, Valérie, Baux, David, Mansard, Luke, Van Goethem, Charles, Dhaenens, Claire-Marie, Grunewald, Olivier, Audo, Isabelle, Zeitz, Christina, Meunier, Isabelle, Bocquet, Béatrice, Cossée, Mireille, Bergougnoux, Anne, Kalatzis, Vasiliki, Roux, Anne-Françoise

Publikováno v: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

Autor: Mansard, Luke, Baux, David, Vaché, Christel, Blanchet, Catherine, Meunier, Isabelle, Willems, Marjolaine, Faugère, Valérie, Baudoin, Corinne, Moclyn, Melody, Bianchi, Julie, Dollfus, Helene, Gilbert-Dussardier, Brigitte, Dupin-Deguine, Delphine, Bonneau, Dominique, Drumare, Isabelle, Odent, Sylvie, Zanlonghi, Xavier, Claustres, Mireille, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2021, 22 (24), pp.13294. ⟨10.3390/ijms222413294⟩
International Journal of Molecular Sciences, Vol 22, Iss 13294, p 13294 (2021)
International Journal of Molecular Sciences, 2021, 22 (24), pp.13294. ⟨10.3390/ijms222413294⟩

Usher syndrome is an autosomal recessive disorder characterized by congenital hearing loss combined with retinitis pigmentosa, and in some cases, vestibular areflexia. Three clinical subtypes are distinguished, and MYO7A and USH2A represent the two m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8735845d56c855697d7629e13c20e2c6
https://hal.archives-ouvertes.fr/hal-03503346

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