Résultat de recherche

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Sophie Thomas, Vincent Cantagrel, Arnold Munnich, Nathalie Boddaert, Stanislas Lyonnet, Tania Attié-Bitach

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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Sophie Saunier, Valérie Cormier-Daire, Sophie Thomas, Tania Attié-Bitach, Nathalie Boddaert, Meriem Garfa-Traoré , Jean-Michel Rozet

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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

Sophie Thomas, Arnold Munnich, Nathalie Boddaert, Stanislas Lyonnet, Tania Attié-Bitach, Lydie Burglen

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Sophie Thomas, Tania Attié-Bitach

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Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

Sophie Thomas, Tania Attié-Bitach

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Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.

Sophie Thomas, Tania Attié-Bitach

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BBS10 mutations are common in 'Meckel'-type cystic kidneys.

Sophie Thomas, Tania Attié-Bitach

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Arnold Munnich, Sophie Saunier, Sophie Thomas, Tania Attié-Bitach

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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Sophie Thomas, Jeanne Amiel, Nathalie Boddaert, Arnold Munnich, Sophie Saunier, Tania Attié-Bitach

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