SPHERE - Study of Perinatal, paediatric and adolescent Health: Epidemiological Research and Evaluation

Equipe constitutive de l'UMR1027, unité mixte INSERM - Université Toulouse III Paul Sabatier

 

2020

  • Debs R, le Traon AP, Diene G, Molinas C, Cortadellas J, Tauber M. Dysautonomie cardiovasculaire au cours du sommeil : un éclairage sur les morts subites dans le syndrome de Prader-Willi. Rev Neurol (Paris). 2020 Sep;176S:S42. French. doi: 10.1016/j.neurol.2020.01.149.
     
  • Famelart N, Diene G, Çabal-Berthoumieu S, Glattard M, Molinas C, Guidetti M, Tauber M. Equivocal expression of emotions in children with Prader-Willi syndrome: what are the consequences for emotional abilities and social adjustment? Orphanet J Rare Dis. 2020 Feb 21;15(1):55. doi: 10.1186/s13023-020-1333-9.
     
  • Laumonerie P, Tibbo ME, Ibnoulkhatib A, Kerezoudis P, Diene G, Thevenin Lemoine C, Accadbled F, Sales de Gauzy J. Evolution of Hip Dysplasia in Pediatric Patients With Prader-Willi Syndrome Treated With Growth Hormone Early in Development. J Pediatr Orthop. 2020 May/Jun;40(5):e357-e361. doi: 10.1097/BPO.0000000000001443.

    2019
     
  • Bruel AL, Nambot S, Quéré V, Vitobello A, Thevenon J, Assoum M, Moutton S, Houcinat N, Lehalle D, Jean-Marçais N; Orphanomix Physician’s Group, Chevarin M, Jouan T, Poë C, Callier P, Tisserand E, Philippe C, Them FTM, Duffourd Y, Faivre L, Thauvin-Robinet C (Diene G collaborator). Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing. Eur J Hum Genet. 2019 Oct;27(10):1519-1531. doi: 10.1038/s41431-019-0442-1.
     
  • Pacoricona Alfaro DL, Lemoine P, Ehlinger V, Molinas C, Diene G, Valette M, Pinto G, Coupaye M, Poitou-Bernert C, Thuilleaux D, Arnaud C, Tauber M. Causes of death in Prader-Willi syndrome: lessons from 11 years' experience of a national reference center. Orphanet J Rare Dis. 2019 Nov 4;14(1):238. doi: 10.1186/s13023-019-1214-2.
     
  • Tauber M, Coupaye M, Diene G, Molinas C, Valette M, Beauloye V. Prader-Willi syndrome: A model for understanding the ghrelin system. J Neuroendocrinol. 2019 Jul;31(7):e12728. doi: 10.1111/jne.12728.

Mise à jour octobre 2020