Publications and ressources

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

Chantal LAGRESLE-PEYROU, Hanem SADEK, Marina Cavazzana

Source :

Pmid / DOI:

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

Marina Cavazzana, Chantal LAGRESLE-PEYROU

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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

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

Source :

Pmid / DOI:

Myhre syndrome.

Source :

Pmid / DOI:

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

Frédéric Rieux-Laucat

Source :

Pmid / DOI:

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

Alain Hovnanian

Source :

Pmid / DOI:

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

Vincent Cantagrel

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

XYLT1 mutations in Desbuquois dysplasia type 2.

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

Source :

Pmid / DOI:

XYLT1 mutations in Desbuquois dysplasia type 2.

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

Source :

Pmid / DOI:

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

Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

Source :

Pmid / DOI:

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

Sophie Thomas, Jeanne Amiel, Jean-Laurent CASANOVA , Nathalie Boddaert, Stanislas Lyonnet, Arnold Munnich, Lydie Burglen, Sophie Saunier, Tania Attié-Bitach

Source :

Pmid / DOI:

Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice.

Geneviève de Saint Basile, Fernando Sepulveda

Source :

Pmid / DOI:

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.

Frédéric Rieux-Laucat

Source :

Pmid / DOI: