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Items: 1 to 20 of 177

1.

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
2.

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R.

Neurology. 2003 Oct 28;61(8):1042-6.

PMID:
14581661
3.

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
4.

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
5.

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.

Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J.

Neurology. 2007 Jul 31;69(5):442-7.

PMID:
17664403
6.

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
7.

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.

8.

[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
9.

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
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.

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
12.

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
13.

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
14.

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
15.

[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
16.

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
17.

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.

Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R.

J Med Genet. 2008 Jun;45(6):355-61. doi: 10.1136/jmg.2007.056507. Epub 2008 Feb 19.

PMID:
18285425
18.

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.

Classen S, Goecke T, Drechsler M, Betz B, Nickel N, Beier M, Schaper J, Karenfort M, Royer-Pokora B.

Am J Med Genet A. 2013 Jun;161A(6):1453-8. doi: 10.1002/ajmg.a.35904. Epub 2013 Apr 30.

PMID:
23633430
19.

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB.

Neurology. 2001 Aug 14;57(3):416-22.

PMID:
11502906
20.

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