Publications and ressources

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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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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Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.

Jeanne Amiel

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Tracing cells for tracking cell lineage and clonal behavior.

Sigolène Meilhac

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Dbx1-expressing cells are necessary for the survival of the mammalian anterior neural and craniofacial structures.

Alessandra Pierani, Frédéric Causeret

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

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

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Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

Frédéric Rieux-Laucat

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