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Developmental
Diseases

Intellectual disabilitiy

Intellectual disability

Research project
The team
Publications

Selected publications

  1. Muñoz-Garcia, J, Heymann, D, Giurgea, I, Legendre, M, Amselem, S, Castañeda, B et al.. Pharmacological options in the treatment of osteogenesis imperfecta: A comprehensive review of clinical and potential alternatives. Biochem Pharmacol. 2023;213 :115584. doi: 10.1016/j.bcp.2023.115584. PubMed PMID:37148979 .
  2. Garcia, A, Legendre, M, Chantot-Bastaraud, S, Siffroi, JP, Christin-Maitre, S. Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49. Ann Endocrinol (Paris). 2023;84 (2):260-264. doi: 10.1016/j.ando.2022.01.003. PubMed PMID:35065919 .
  3. El Khouri, E, Ghoumid, J, Haye, D, Giuliano, F, Drevillon, L, Briand-Suleau, A et al.. Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders. Mol Psychiatry. 2021;26 (7):3572-3585. doi: 10.1038/s41380-021-01072-7. PubMed PMID:33867523 .
  4. Ghoumid, J, Drevillon, L, Alavi-Naini, SM, Bondurand, N, Rio, M, Briand-Suleau, A et al.. ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. Hum Mol Genet. 2013;22 (13):2652-61. doi: 10.1093/hmg/ddt114. PubMed PMID:23466526 .
  5. Drévillon, L, Megarbane, A, Demeer, B, Matar, C, Benit, P, Briand-Suleau, A et al.. KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. Hum Mol Genet. 2013;22 (12):2387-99. doi: 10.1093/hmg/ddt083. PubMed PMID:23427148 .
  6. Whalen, S, Héron, D, Gaillon, T, Moldovan, O, Rossi, M, Devillard, F et al.. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat. 2012;33 (1):64-72. doi: 10.1002/humu.21639. PubMed PMID:22045651 .

 

You can find more about our scientific publications on https://www.hal.inserm.fr/U933.