CNRGH

Marion Imbert-Bouteille et al.
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
European Journal of Medical Genetics 2018, vol. 62, issue 3
doi: 10.1016/j.ejmg.2018.07.003

L. Mondoulet et al.
Gata3 hypermethylation and Foxp3 hypomethylation are associated with sustained protection and bystander effect following epicutaneous immunotherapy in peanut‐sensitized mice
Allergy 2018, vol. 74, issue 1
doi: 10.1111/all.13479

Bénédicte Stengel et al.
Risk profile, quality of life and care of patients with moderate and advanced CKD: The French CKD-REIN Cohort Study
Nephrology Dialysis Transplantation 2018, vol. 34, issue 2
doi: 10.1093/ndt/gfy058

Mirzaa GM et al.
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Lancet Neurol. (2015)
doi: 10.1016/S1474-4422(15)00278-1

Laustriat D. et al.
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin
Mol Ther Nucleic Acids. 2015, 4p. e26
doi: 10.1038/mtna.2015.35

Mirzaa GM. et al.
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
Lancet Neurol. 2015, 14 (12): p. 1182-1195
doi: 10.1016/S1474-4422(15)00278

Chalhoub B. et al
Early allopolyploid evolution in the post-Neolithic Brassica napus oilseed genome
Science. 2014 Aug 22,345(6199):950-3
doi: 10.1126/science.1253435

Merlevede J. et al.
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
Nat Commun. (2016) 7: 10767
doi: 10.1038/ncomms10767

Nicolas G. et al.
CNR-MAJ collaborators. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease
Mol Psychiatry. (2016) 21(6):831-6
doi: 10.1038/mp.2015.121

Gargaun E. et al.
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome
J Neurol. (2016) 263(7):1456-8
doi: 10.1007/s00415-016-8153-9