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Page 1
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J. Poirier K, et al. Among authors: francis f. Hum Mutat. 2007 Nov;28(11):1055-64. doi: 10.1002/humu.20572. Hum Mutat. 2007. PMID: 17584854
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
des Portes V, Francis F, Pinard JM, Desguerre I, Moutard ML, Snoeck I, Meiners LC, Capron F, Cusmai R, Ricci S, Motte J, Echenne B, Ponsot G, Dulac O, Chelly J, Beldjord C. des Portes V, et al. Among authors: francis f. Hum Mol Genet. 1998 Jul;7(7):1063-70. doi: 10.1093/hmg/7.7.1063. Hum Mol Genet. 1998. PMID: 9618162
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrié A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J. Zemni R, et al. Among authors: francis f. Nat Genet. 2000 Feb;24(2):167-70. doi: 10.1038/72829. Nat Genet. 2000. PMID: 10655063
[Mental retardation and disorders of cortical development].
Des Portes V, Pinard JM, Francis F, Beldjord C, Ponsot G, Chelly J. Des Portes V, et al. Among authors: francis f. Arch Pediatr. 2000 May;7 Suppl 2:109s-111s. doi: 10.1016/s0929-693x(00)80002-0. Arch Pediatr. 2000. PMID: 10904675 French. No abstract available.
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. Bienvenu T, et al. Among authors: francis f. Hum Mol Genet. 2002 Apr 15;11(8):981-91. doi: 10.1093/hmg/11.8.981. Hum Mol Genet. 2002. PMID: 11971879
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.
Poirier K, Van Esch H, Friocourt G, Saillour Y, Bahi N, Backer S, Souil E, Castelnau-Ptakhine L, Beldjord C, Francis F, Bienvenu T, Chelly J. Poirier K, et al. Among authors: francis f. Brain Res Mol Brain Res. 2004 Mar 17;122(1):35-46. doi: 10.1016/j.molbrainres.2003.11.021. Brain Res Mol Brain Res. 2004. PMID: 14992814
Mechanism of microtubule stabilization by doublecortin.
Moores CA, Perderiset M, Francis F, Chelly J, Houdusse A, Milligan RA. Moores CA, et al. Among authors: francis f. Mol Cell. 2004 Jun 18;14(6):833-9. doi: 10.1016/j.molcel.2004.06.009. Mol Cell. 2004. PMID: 15200960 Free article.
611 results