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Results: 1 to 20 of 122

1.

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
[PubMed - indexed for MEDLINE]
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. doi: 10.1007/s10048-008-0141-5. Epub 2008 Aug 7.

PMID:
18685874
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
10441340
[PubMed - indexed for MEDLINE]
Free Article
4.

[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
[PubMed - indexed for MEDLINE]
5.

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.

D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E.

Brain. 2002 Nov;125(Pt 11):2507-22.

PMID:
12390976
[PubMed - indexed for MEDLINE]
Free Article
6.

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.

PMID:
19050731
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.

Poolos NP, Das S, Clark GD, Lardizabal D, Noebels JL, Wyllie E, Dobyns WB.

Neurology. 2002 May 28;58(10):1559-62.

PMID:
12034802
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
23365099
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

Kim MK, Park MS, Kim BC, Cho KH, Kim YS, Kim JH, Lee MC, Heo T, Kim EY.

J Korean Med Sci. 2005 Aug;20(4):670-3.

PMID:
16100463
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

[Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy].

Li W, Zhang MP, Hou ZJ, Zeng T, Tang B, Liu XR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):74-8. doi: 10.3760/cma.j.issn.1003-9406.2013.01.018. Chinese.

PMID:
23450485
[PubMed - indexed for MEDLINE]
12.

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.

Sossey-Alaoui K, Hartung AJ, Guerrini R, Manchester DK, Posar A, Puche-Mira A, Andermann E, Dobyns WB, Srivastava AK.

Hum Mol Genet. 1998 Aug;7(8):1327-32.

PMID:
9668176
[PubMed - indexed for MEDLINE]
Free Article
13.

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
[PubMed - indexed for MEDLINE]
14.

[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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB.

Eur J Hum Genet. 2001 Jan;9(1):5-12.

PMID:
11175293
[PubMed - indexed for MEDLINE]
Free Article
17.

Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.

Mei D, Parrini E, Pasqualetti M, Tortorella G, Franzoni E, Giussani U, Marini C, Migliarini S, Guerrini R.

Neurology. 2007 Feb 6;68(6):446-50.

PMID:
17283321
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.

Ruggieri M, Roggini M, Spalice A, Addis M, Iannetti P.

Pediatr Neurol. 2009 May;40(5):383-6. doi: 10.1016/j.pediatrneurol.2008.11.006.

PMID:
19380077
[PubMed - indexed for MEDLINE]
20.

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

Guerrini R, Carrozzo R.

Seizure. 2002 Apr;11 Suppl A:532-43; quiz 544-7. Review.

PMID:
12185771
[PubMed - indexed for MEDLINE]

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