Résultat de recherche

A human immunodeficiency caused by mutations in the PIK3R1 gene.

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

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X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

Marina Cavazzana, Chantal LAGRESLE-PEYROU, Aude Magerus, Frédéric Rieux-Laucat, Anne DURANDY, Sven KRACKER, Geneviève de Saint Basile, Alain Fischer, Marina Cavazzana, Isabelle André

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Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.

Chantal LAGRESLE-PEYROU, Geneviève de Saint Basile, Marina Cavazzana, Isabelle André

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AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages.

Emmanuelle SIX, Chantal LAGRESLE-PEYROU, Corinne de Chappedelaine, Alain Fischer, Isabelle André, Marina Cavazzana

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Human T-lymphoid progenitors generated in a feeder-cell-free Delta-like-4 culture system promote T-cell reconstitution in NOD/SCID/γc(-/-) mice.

Emmanuelle SIX, Chantal LAGRESLE-PEYROU, Corinne de Chappedelaine, Marina Cavazzana, Isabelle André

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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Vincent Cantagrel

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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Vincent Cantagrel

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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

Vincent Cantagrel

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