Publications and ressources

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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Recurrent genomic instability of chromosome 1q in neural derivatives of human embryonic stem cells.

Nathalie Lefort

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

Sophie Thomas, Tania Attié-Bitach

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A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

Frédéric Rieux-Laucat

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TET2 and DNMT3A mutations in human T-cell lymphoma.

Lucile Couronné

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Cell lineages, growth and repair of the mouse heart.

Sigolène Meilhac

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Cell lineages, growth and repair of the mouse heart.

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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Sandrine Marlin, Jean-Laurent CASANOVA , Arnold Munnich, Valérie Cormier-Daire

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