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

Sylvain Latour

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

Steicy SOBRINO, Alain Fischer, Sylvain Latour

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

Sylvain Latour

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

Sven KRACKER, Alain Fischer, Bénédicte Neven, Sylvain Latour

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

Sylvain Latour, Alain Fischer

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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

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Animal models of craniosynostosis.

Laurence Legeai-Mallet , Emilie Dambroise, Nabil Kaci

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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

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Achondroplasia: Development, pathogenesis, and therapy.

Laurence Legeai-Mallet

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Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.

Johanne Dubail, Geneviève Baujat, Céline Huber, Caroline Michot, Valérie Cormier-Daire

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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Céline Huber, Valérie Cormier-Daire

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