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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: beldjord c. Hum Mol Genet. 1998 Jul;7(7):1063-70. doi: 10.1093/hmg/7.7.1063. Hum Mol Genet. 1998. PMID: 9618162
Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency.
Kappeler C, Dhenain M, Phan Dinh Tuy F, Saillour Y, Marty S, Fallet-Bianco C, Souville I, Souil E, Pinard JM, Meyer G, Encha-Razavi F, Volk A, Beldjord C, Chelly J, Francis F. Kappeler C, et al. Among authors: beldjord c. J Comp Neurol. 2007 Jan 10;500(2):239-54. doi: 10.1002/cne.21170. J Comp Neurol. 2007. PMID: 17111359
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, Bahi-Buisson N. Leger PL, et al. Among authors: beldjord c. Neurogenetics. 2008 Oct;9(4):277-85. doi: 10.1007/s10048-008-0141-5. Epub 2008 Aug 7. Neurogenetics. 2008. PMID: 18685874
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium. Bahi-Buisson N, et al. Among authors: beldjord c. Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323. Brain. 2013. PMID: 23365099 Free PMC article.
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
des Portes V, Pinard JM, Smadja D, Motte J, Boespflüg-Tanguy O, Moutard ML, Desguerre I, Billuart P, Carrie A, Bienvenu T, Vinet MC, Bachner L, Beldjord C, Dulac O, Kahn A, Ponsot G, Chelly J. des Portes V, et al. Among authors: beldjord c. J Med Genet. 1997 Mar;34(3):177-83. doi: 10.1136/jmg.34.3.177. J Med Genet. 1997. PMID: 9132485 Free PMC article.
[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: beldjord c. 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.
Human disorders of cortical development: from past to present.
Francis F, Meyer G, Fallet-Bianco C, Moreno S, Kappeler C, Socorro AC, Tuy FP, Beldjord C, Chelly J. Francis F, et al. Among authors: beldjord c. Eur J Neurosci. 2006 Feb;23(4):877-93. doi: 10.1111/j.1460-9568.2006.04649.x. Eur J Neurosci. 2006. PMID: 16519653 Review.
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N. Saillour Y, et al. Among authors: beldjord c. Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. Arch Neurol. 2009. PMID: 19667223
147 results