Publications and ressources

Integrating multi-scale knowledge on cardiac development into a computational model of ventricular trabeculation.

Sigolène Meilhac

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[Cilia and heart morphogenesis].

Sigolène Meilhac

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Segmented filamentous bacterium uses secondary and tertiary lymphoid tissues to induce gut IgA and specific T helper 17 cell responses.

Valérie GABORIAU-ROUTHIAU

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The BLNK adaptor protein has a nonredundant role in human B-cell differentiation.

Chantal LAGRESLE-PEYROU, Hanem SADEK, Marina Cavazzana

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Successful RAG1-SCID gene therapy depends on the level of RAG1 expression.

Marina Cavazzana, Chantal LAGRESLE-PEYROU

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Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Marlène Rio, Nathalie Boddaert, Rima NABBOUT, Giulia Barcia, Arnold Munnich, Jean-Michel Rozet

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Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Isabelle Perrault, Marlène Rio, Nathalie Boddaert, Rima NABBOUT, Giulia Barcia, Arnold Munnich, Jean-Michel Rozet

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Myhre syndrome.

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RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia.

Frédéric Rieux-Laucat

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Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome.

Alain Hovnanian

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CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

Vincent Cantagrel

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Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome.

Chantal LAGRESLE-PEYROU, Marina Cavazzana

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XYLT1 mutations in Desbuquois dysplasia type 2.

Céline Huber, Patrick Nitschké, Arnold Munnich, Valérie Cormier-Daire

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XYLT1 mutations in Desbuquois dysplasia type 2.

Céline Huber, Patrick Nitschké, Arnold Munnich, Valérie Cormier-Daire

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Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

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