Résultat de recherche

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Jean-Michel Rozet

Source :

Pmid / DOI:

DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma and autoimmunity.

Sylvain Latour

Source :

Pmid / DOI:

Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.

Steicy SOBRINO, Alain Fischer, Sylvain Latour

Source :

Pmid / DOI:

Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection.

Sylvain Latour

Source :

Pmid / DOI:

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells.

Sven KRACKER, Alain Fischer, Bénédicte Neven, Sylvain Latour

Source :

Pmid / DOI:

Signaling pathways involved in the T-cell-mediated immunity against Epstein-Barr virus: Lessons from genetic diseases.

Sylvain Latour, Alain Fischer

Source :

Pmid / DOI:

Fgfr3 Is a Positive Regulator of Osteoblast Expansion and Differentiation During Zebrafish Skull Vault Development.

Emilie Dambroise, Ghaith ABDESSALEM, Marine LUKA, Laurence Legeai-Mallet , Mickaël Ménager

Source :

Pmid / DOI:

Animal models of craniosynostosis.

Laurence Legeai-Mallet , Emilie Dambroise, Nabil Kaci

Source :

Pmid / DOI:

Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.

Nabil Kaci, Meriem Garfa-Traoré , Emilie Dambroise, Laurence Legeai-Mallet

Source :

Pmid / DOI: