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Items: 1 to 20 of 117

1.

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.

2.

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
3.

[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
4.

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.

5.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.

J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906.

PMID:
20452996
6.

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
7.

Genomic copy number variations at 17p13.3 and epileptogenesis.

Shimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T.

Epilepsy Res. 2010 May;89(2-3):303-9. doi: 10.1016/j.eplepsyres.2010.02.002. Epub 2010 Mar 12.

PMID:
20227246
8.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S.

Eur J Med Genet. 2010 Sep-Oct;53(5):303-8. doi: 10.1016/j.ejmg.2010.06.009. Epub 2010 Jul 3.

PMID:
20599530
9.

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P.

J Med Genet. 2009 Dec;46(12):825-33. doi: 10.1136/jmg.2009.067637. Epub 2009 Jul 6.

PMID:
19584063
10.

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
11.

[Genetic and clinical aspects of lissencephaly].

Verloes A, Elmaleh M, Gonzales M, Laquerrière A, Gressens P.

Rev Neurol (Paris). 2007 May;163(5):533-47. Review. French.

PMID:
17571022
12.

Lissencephaly variant of band heterotopia: PET peeves.

Shetty-Alva N.

Pediatr Neurol. 2007 Dec;37(6):454-5. No abstract available.

PMID:
18021933
13.

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
14.

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
15.

Lissencephaly type I.

Leventer R.

Handb Clin Neurol. 2008;87:205-18. doi: 10.1016/S0072-9752(07)87013-8. No abstract available.

PMID:
18809027
16.

Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus.

Lin CY, Chen CP, Liau CL, Su PH, Tsao TF, Chang TY, Wang W.

Taiwan J Obstet Gynecol. 2009 Dec;48(4):408-11. doi: 10.1016/S1028-4559(09)60332-6.

17.

Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.

Andrade DM.

Hum Genet. 2009 Jul;126(1):173-93. doi: 10.1007/s00439-009-0702-1. Epub 2009 Jun 18. Review.

PMID:
19536565
18.

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
19.

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
20.

[Molecular mechanism of lissencephaly--how LIS1 and NDEL1 regulate cytoplasmic dynein?].

Hirotsune S.

Brain Nerve. 2008 Apr;60(4):375-81. Review. Japanese.

PMID:
18421979
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