Publications and ressources

Inhibition of the Interleukin-36 Pathway for the Treatment of Generalized Pustular Psoriasis.

Hervé Bachelez

Source :

Pmid / DOI:

Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Bernadette BEGUE, Nicolas GUEGAN, Olivier Hermine, Nadine CERF-BENSUSSAN , Georgia MALAMUT

Source :

Pmid / DOI:

Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Nicolas GUEGAN, Olivier Hermine, Nadine CERF-BENSUSSAN , Georgia MALAMUT

Source :

Pmid / DOI:

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

Nadia Bahi-Buisson, Camille Maillard

Source :

Pmid / DOI:

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Nadia Bahi-Buisson, Camille Maillard

Source :

Pmid / DOI:

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Nadia Bahi-Buisson

Source :

Pmid / DOI:

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Valérie Malan

Source :

Pmid / DOI:

Baboon envelope LVs efficiently transduced human adult, fetal, and progenitor T cells and corrected SCID-X1 T-cell deficiency.

Kuiying MA, Hanem SADEK, Marina Cavazzana, Chantal LAGRESLE-PEYROU, Isabelle André

Source :

Pmid / DOI:

Genetics of human susceptibility to active and latent tuberculosis: present knowledge and future perspectives.

Laurent Abel

Source :

Pmid / DOI:

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

Valérie Cormier-Daire

Source :

Pmid / DOI:

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

Valérie Cormier-Daire

Source :

Pmid / DOI:

Cell type-specific regulation of ciliary transition zone assembly in vertebrates.

Sophie Saunier

Source :

Pmid / DOI:

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect.

Vincent Cantagrel, Nathalie Lefort

Source :

Pmid / DOI:

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Jean-Laurent CASANOVA

Source :

Pmid / DOI:

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Géraldine Mollet, Corinne Antignac, Christelle Arrondel, Frances Tilley

Source :

Pmid / DOI: