BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

306 related articles for article (PubMed ID: 11115846)

  • 1. 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; 9(20):3019-28. PubMed ID: 11115846
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 69(5):442-7. PubMed ID: 17664403
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 7(13):2029-37. PubMed ID: 9817918
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Murine modelling of classical lissencephaly.
    Gambello MJ; Hirotsune S; Wynshaw-Boris A
    Neurogenetics; 1999 Apr; 2(2):77-86. PubMed ID: 10369882
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 19667223
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
    Cardoso C; Leventer RJ; Dowling JJ; Ward HL; Chung J; Petras KS; Roseberry JA; Weiss AM; Das S; Martin CL; Pilz DT; Dobyns WB; Ledbetter DH
    Hum Mutat; 2002 Jan; 19(1):4-15. PubMed ID: 11754098
    [TBL] [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]  

  • 11. Lissencephaly and the molecular basis of neuronal migration.
    Kato M; Dobyns WB
    Hum Mol Genet; 2003 Apr; 12 Spec No 1():R89-96. PubMed ID: 12668601
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
    Sweeney KJ; Clark GD; Prokscha A; Dobyns WB; Eichele G
    Mech Dev; 2000 Apr; 92(2):263-71. PubMed ID: 10727864
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.
    Kolbjer S; Martin DA; Pettersson M; Dahlin M; Anderlid BM
    Eur J Paediatr Neurol; 2021 Jan; 30():71-81. PubMed ID: 33453472
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.
    Leventer RJ
    J Child Neurol; 2005 Apr; 20(4):307-12. PubMed ID: 15921231
    [TBL] [Abstract][Full Text] [Related]  

  • 16. LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
    Leventer RJ; Cardoso C; Ledbetter DH; Dobyns WB
    Neurology; 2001 Aug; 57(3):416-22. PubMed ID: 11502906
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome.
    Izumi K; Kuratsuji G; Ikeda K; Takahashi T; Kosaki K
    Pediatr Neurol; 2007 Apr; 36(4):258-60. PubMed ID: 17437911
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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; 266(3):1011-20. PubMed ID: 10583396
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 8(10):603-6. PubMed ID: 9601647
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.