Publications and ressources

A human immunodeficiency caused by mutations in the PIK3R1 gene.

Sven KRACKER, Marina Cavazzana, Alain Fischer, Christine Bole, Patrick Nitschké

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A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice.

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

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

Vincent Cantagrel, Jean-Laurent CASANOVA

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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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Growth and host interaction of mouse segmented filamentous bacteria in vitro.

Nadine CERF-BENSUSSAN

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DYRK1A BAC transgenic mouse: a new model of thyroid dysgenesis in Down syndrome.

Michel Polak, Dulanjalee Kariyawasam, Aurore Carre

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Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome.

Emmanuelle SIX, Alain Fischer, Marina Cavazzana

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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Sophie Thomas, Sophie Saunier, Tania Attié-Bitach

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Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Arnold Munnich, Jean-Michel Rozet

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Cardiac cell lineages that form the heart.

Sigolène Meilhac

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Adult neurogenesis: beyond learning and memory.

Johanne Dubail

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Imaging and analyzing primary cilia in cardiac cells.

Sigolène Meilhac

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The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies.

Alexandre Benmerah , Sigolène Meilhac

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Imaging and analyzing primary cilia in cardiac cells.

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Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients.

Frédéric Rieux-Laucat

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