Resources

Lineage tree for the venous pole of the heart: clonal analysis clarifies controversial genealogy based on genetic tracing.

Sigolène Meilhac

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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Jean-Michel Rozet

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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Isabelle Perrault, Patrick Nitschké, Arnold Munnich, Jean-Michel Rozet

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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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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Patrick Nitschké, Arnold Munnich, Jean-Michel Rozet

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TCTN3 mutations cause Mohr-Majewski syndrome.

Sophie Thomas, Sophie Saunier, Yves Ville, Patrick Nitschké, Stanislas Lyonnet, Arnold Munnich, Valérie Cormier-Daire, Tania Attié-Bitach

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The GATA1-HS2 enhancer allows persistent and position-independent expression of a β-globin transgene.

Annarita Miccio

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Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex.

Gaël Ménasché, Mathieu Kurowska, Alain Fischer, Geneviève de Saint Basile

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Lentiviral vector integration in the human genome induces alternative splicing and generates aberrant transcripts.

Annarita Miccio

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AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

Isabelle Perrault, Arnold Munnich, Jean-Michel Rozet

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AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

Arnold Munnich, Jean-Michel Rozet

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An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth.

Arnold Munnich, Laurence Legeai-Mallet

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Tangentially migrating transient glutamatergic neurons control neurogenesis and maintenance of cerebral cortical progenitor pools.

Alessandra Pierani

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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Isabelle Perrault, Sophie Saunier, Patrick Nitschké, Arnold Munnich, Corinne Antignac, Valérie Cormier-Daire, Jean-Michel Rozet

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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Sophie Saunier, Patrick Nitschké, Arnold Munnich, Corinne Antignac, Valérie Cormier-Daire, Jean-Michel Rozet

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