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Page 1
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, Goizet C, Charles P, Anheim M, Monin ML, Buée L, Destée A, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Brice A, Stevanin G, Strubi-Vuillaume I, Dürr A, Sablonnière B. Delplanque J, et al. Brain. 2014 Oct;137(Pt 10):2657-63. doi: 10.1093/brain/awu202. Epub 2014 Jul 28. Brain. 2014. PMID: 25070513
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P. Bonnefond A, et al. Among authors: delplanque j. PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11. PLoS One. 2012. PMID: 22701567 Free PMC article.
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
Bonnefond A, Durand E, Sand O, De Graeve F, Gallina S, Busiah K, Lobbens S, Simon A, Bellanné-Chantelot C, Létourneau L, Scharfmann R, Delplanque J, Sladek R, Polak M, Vaxillaire M, Froguel P. Bonnefond A, et al. Among authors: delplanque j. PLoS One. 2010 Oct 26;5(10):e13630. doi: 10.1371/journal.pone.0013630. PLoS One. 2010. PMID: 21049026 Free PMC article.
Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats.
Dhaenens CM, Schraen-Maschke S, Tran H, Vingtdeux V, Ghanem D, Leroy O, Delplanque J, Vanbrussel E, Delacourte A, Vermersch P, Maurage CA, Gruffat H, Sergeant A, Mahadevan MS, Ishiura S, Buée L, Cooper TA, Caillet-Boudin ML, Charlet-Berguerand N, Sablonnière B, Sergeant N. Dhaenens CM, et al. Among authors: delplanque j. Exp Neurol. 2008 Apr;210(2):467-78. doi: 10.1016/j.expneurol.2007.11.020. Epub 2007 Dec 4. Exp Neurol. 2008. PMID: 18177861
Variation in FTO contributes to childhood obesity and severe adult obesity.
Dina C, Meyre D, Gallina S, Durand E, Körner A, Jacobson P, Carlsson LM, Kiess W, Vatin V, Lecoeur C, Delplanque J, Vaillant E, Pattou F, Ruiz J, Weill J, Levy-Marchal C, Horber F, Potoczna N, Hercberg S, Le Stunff C, Bougnères P, Kovacs P, Marre M, Balkau B, Cauchi S, Chèvre JC, Froguel P. Dina C, et al. Among authors: delplanque j. Nat Genet. 2007 Jun;39(6):724-6. doi: 10.1038/ng2048. Epub 2007 May 13. Nat Genet. 2007. PMID: 17496892
62 results