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3. 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. PubMed ID: 20227246 [TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 23633430 [TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 19050725 [No Abstract] [Full Text] [Related]
6. LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Herbst SM; Proepper CR; Geis T; Borggraefe I; Hahn A; Debus O; Haeussler M; von Gersdorff G; Kurlemann G; Ensslen M; Beaud N; Budde J; Gilbert M; Heiming R; Morgner R; Philippi H; Ross S; Strobl-Wildemann G; Muelleder K; Vosschulte P; Morris-Rosendahl DJ; Schuierer G; Hehr U Brain Dev; 2016 Apr; 38(4):399-406. PubMed ID: 26494205 [TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 19808989 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 22408144 [TBL] [Abstract][Full Text] [Related]
9. [Deletion of the LIS1, ASPA, TRPV1 and CAMTA2 genes in region 17p13.3 in a patient with Miller-Dieker syndrome]. Laurito S; Goldschmidt E; Marquez M; Roque M Rev Neurol; 2011 Feb; 52(3):189-91. PubMed ID: 21287497 [No Abstract] [Full Text] [Related]
10. 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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18. 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; 53(5):303-8. PubMed ID: 20599530 [TBL] [Abstract][Full Text] [Related]
19. Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more. Reiner O; Sapoznik S; Sapir T Neuromolecular Med; 2006; 8(4):547-65. PubMed ID: 17028375 [TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 18285425 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]