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Items: 1 to 20 of 127

1.

Somatic mutation, genomic variation, and neurological disease.

Poduri A, Evrony GD, Cai X, Walsh CA.

Science. 2013 Jul 5;341(6141):1237758. doi: 10.1126/science.1237758. Review.

2.

Somatic mutations in cerebral cortical malformations.

Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA.

N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432.

3.

[A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation].

Igarashi A, Kawatani M, Ohta G, Kometani H, Ohshima Y, Kato M.

No To Hattatsu. 2013 Sep;45(5):371-4. Japanese.

PMID:
24205692
4.

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.

Jang MA, Woo HI, Kim JW, Lee J, Ki CS.

Pediatr Neurol. 2013 May;48(5):411-4. doi: 10.1016/j.pediatrneurol.2012.12.033.

PMID:
23583063
5.

A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.

Mineyko A, Doja A, Hurteau J, Dobyns WB, Das S, Boycott KM.

J Child Neurol. 2010 Jun;25(6):738-41. doi: 10.1177/0883073809343312. Epub 2009 Oct 6.

PMID:
19808989
6.

Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism.

Moreira I, Bastos-Ferreira R, Silva J, Ribeiro C, Alonso I, Chaves J.

Seizure. 2015 Feb;25:62-4. doi: 10.1016/j.seizure.2014.12.005. Epub 2014 Dec 19. No abstract available.

7.

A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.

Tsai MH, Kuo PW, Myers CT, Li SW, Lin WC, Fu TY, Chang HY, Mefford HC, Chang YC, Tsai JW.

Eur J Paediatr Neurol. 2016 Sep;20(5):788-94. doi: 10.1016/j.ejpn.2016.05.010. Epub 2016 May 30.

PMID:
27292316
8.

[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].

Bahi-Buisson N, Boddaert N, Saillour Y, Souville I, Poirier K, Léger PL, Castelnau L, Plouin P, Carion N, Beldjord C, Chelly J.

Rev Neurol (Paris). 2008 Dec;164(12):995-1009. doi: 10.1016/j.neurol.2008.04.006. Epub 2008 Jun 9. Review. French.

PMID:
18808783
9.

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.

Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323.

10.

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. doi: 10.1007/s10048-008-0141-5. Epub 2008 Aug 7.

PMID:
18685874
11.

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.

Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149.

PMID:
19667223
12.

Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.

Mokánszki A, Körhegyi I, Szabó N, Bereg E, Gergev G, Balogh E, Bessenyei B, Sümegi A, Morris-Rosendahl DJ, Sztriha L, Oláh E.

J Child Neurol. 2012 Dec;27(12):1534-40. doi: 10.1177/0883073811436326. Epub 2012 Mar 8.

PMID:
22408144
13.

Mosaic DCX deletion causes subcortical band heterotopia in males.

Quélin C, Saillour Y, Souville I, Poirier K, N'guyen-Morel MA, Vercueil L, Millisher-Bellaiche AE, Boddaert N, Dubois F, Chelly J, Beldjord C, Bahi-Buisson N.

Neurogenetics. 2012 Nov;13(4):367-73. doi: 10.1007/s10048-012-0339-4. Epub 2012 Jul 26.

PMID:
22833188
14.

Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.

Takeshita S, Higuchi M, Suyama M, Koide W, Maki K, Ushijima K, Ban K, Saito M, Kato M, Saitoh S.

Pediatr Int. 2015 Apr;57(2):321-3. doi: 10.1111/ped.12502.

PMID:
25868952
15.

The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.

Dobyns WB.

Epilepsia. 2010 Feb;51 Suppl 1:5-9. doi: 10.1111/j.1528-1167.2009.02433.x. No abstract available.

16.

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. doi: 10.1038/ejhg.2008.213. Epub 2008 Dec 3.

17.

Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.

Delatycki MB, Leventer RJ.

Eur J Hum Genet. 2009 Jun;17(6):701-2. doi: 10.1038/ejhg.2008.230. Epub 2008 Dec 3. No abstract available.

18.

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.

Aigner L, Uyanik G, Couillard-Despres S, Ploetz S, Wolff G, Morris-Rosendahl D, Martin P, Eckel U, Spranger S, Otte J, Woerle H, Holthausen H, Apheshiotis N, Fluegel D, Winkler J.

Neurology. 2003 Jan 28;60(2):329-32.

PMID:
12552055
19.

Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene.

Parisi P, Miano S, Mei D, Paolino MC, Castaldo R, Villa MP.

Brain Dev. 2010 Jun;32(6):511-5. doi: 10.1016/j.braindev.2009.06.007. Epub 2009 Jul 19.

PMID:
19619967
20.

Classical (type I) lissencephaly and Miller-Dieker syndrome.

Matarese CA, Renaud DL.

Pediatr Neurol. 2009 Apr;40(4):324-5. doi: 10.1016/j.pediatrneurol.2008.11.008. No abstract available.

PMID:
19302951

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