CORMIER-DAIRE Valérie : UMR_S1163 : Molecular and Physiopathological basis of osteochondrodysplasia

Unit : INSERM UMR_S1163 - IHU Imagine - Institut des maladies génétiques - Université Paris Descartes

IHU Imagine - Institut des Maladies Génétiques
Bâtiment Imagine
Equipe "Bases moléculaires et physiopathologiques des  ostéochondrodysplasies"
24 boulevard du Montparnasse
75015 PARIS

Speciality : Department DGNRV

Director of the unit : Alain FISCHER

Principal investigator :

Email : Phone number: +33 (0)1 44 49 51 63

Composition of research team :

  • LE GOFF Carine (CR1-INSERM)
  • HUBER Céline (IR-INSERM)

5 Recent publications of the research team :

Huber C, et al. Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia. Am J Hum Genet. 2013, 92:144-9

Lorget F, et al . Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. Am J Hum Genet. 2012, 91:1108-14.

Mugniery E, et al. An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth. Hum Mol Genet. 2011, 21:2503-13.

Le Goff C et al. . Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet. 2011, 44: 85-88

Genevieve D. et al. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nat Genet. 2008; 40:284-286.