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247 related items for PubMed ID: 9063735

  • 1. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
    Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH.
    Hum Mol Genet; 1997 Feb; 6(2):157-64. PubMed ID: 9063735
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  • 2. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
    Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith AC, Dobyns WB, Ledbetter DH.
    Hum Mol Genet; 1997 Feb; 6(2):147-55. PubMed ID: 9063734
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  • 3. Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome.
    Sakamoto M, Ono J, Okada S, Masuno M, Nakamura Y, Kurahashi H.
    Hum Genet; 1998 Nov; 103(5):586-9. PubMed ID: 9860301
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  • 4. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
    Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH.
    Am J Hum Genet; 2003 Apr; 72(4):918-30. PubMed ID: 12621583
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  • 5. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
    Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH.
    Hum Mol Genet; 2000 Dec 12; 9(20):3019-28. PubMed ID: 11115846
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  • 6. Murine modelling of classical lissencephaly.
    Gambello MJ, Hirotsune S, Wynshaw-Boris A.
    Neurogenetics; 1999 Apr 12; 2(2):77-86. PubMed ID: 10369882
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  • 7. Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence.
    Elias RC, Galera MF, Schnabel B, Briones MR, Borri ML, Lipay M, Carvalheira G, Brunoni D, Melaragno MI.
    Pediatr Neurol; 2006 Jul 12; 35(1):42-6. PubMed ID: 16814084
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  • 8. Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.
    Hirotsune S, Pack SD, Chong SS, Robbins CM, Pavan WJ, Ledbetter DH, Wynshaw-Boris A.
    Genome Res; 1997 Jun 12; 7(6):625-34. PubMed ID: 9199935
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  • 12. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
    Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH.
    Am J Hum Genet; 1992 Jan 12; 50(1):182-9. PubMed ID: 1346078
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  • 13. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
    Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME.
    Hum Mol Genet; 1998 Dec 12; 7(13):2029-37. PubMed ID: 9817918
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  • 14. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
    Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH.
    JAMA; 1993 Dec 15; 270(23):2838-42. PubMed ID: 7907669
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  • 16. Analysis of lissencephaly-causing LIS1 mutations.
    Sapir T, Eisenstein M, Burgess HA, Horesh D, Cahana A, Aoki J, Hattori M, Arai H, Inoue K, Reiner O.
    Eur J Biochem; 1999 Dec 15; 266(3):1011-20. PubMed ID: 10583396
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  • 17. 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 15; 161A(6):1453-8. PubMed ID: 23633430
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  • 18. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
    Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A.
    Nat Genet; 2003 Jul 15; 34(3):274-85. PubMed ID: 12796778
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  • 19. The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC.
    Morris SM, Albrecht U, Reiner O, Eichele G, Yu-Lee LY.
    Curr Biol; 1998 May 07; 8(10):603-6. PubMed ID: 9601647
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  • 20. NudE-L, a novel Lis1-interacting protein, belongs to a family of vertebrate coiled-coil proteins.
    Sweeney KJ, Prokscha A, Eichele G.
    Mech Dev; 2001 Mar 07; 101(1-2):21-33. PubMed ID: 11231056
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