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2. 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 Neurogenetics; 2008 Oct; 9(4):277-85. PubMed ID: 18685874 [TBL] [Abstract][Full Text] [Related]
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5. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Haverfield EV; Whited AJ; Petras KS; Dobyns WB; Das S Eur J Hum Genet; 2009 Jul; 17(7):911-8. PubMed ID: 19050731 [TBL] [Abstract][Full Text] [Related]
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8. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Di Donato N; Timms AE; Aldinger KA; Mirzaa GM; Bennett JT; Collins S; Olds C; Mei D; Chiari S; Carvill G; Myers CT; Rivière JB; Zaki MS; ; Gleeson JG; Rump A; Conti V; Parrini E; Ross ME; Ledbetter DH; Guerrini R; Dobyns WB Genet Med; 2018 Nov; 20(11):1354-1364. PubMed ID: 29671837 [TBL] [Abstract][Full Text] [Related]
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17. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Pilz DT; Kuc J; Matsumoto N; Bodurtha J; Bernadi B; Tassinari CA; Dobyns WB; Ledbetter DH Hum Mol Genet; 1999 Sep; 8(9):1757-60. PubMed ID: 10441340 [TBL] [Abstract][Full Text] [Related]
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20. Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. Leventer RJ; Pilz DT; Matsumoto N; Ledbetter DH; Dobyns WB Mol Med Today; 2000 Jul; 6(7):277-84. PubMed ID: 10859564 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]