These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

374 related articles for article (PubMed ID: 23583063)

  • 1. 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. PubMed ID: 23583063
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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. PubMed ID: 27292316
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
    Morris-Rosendahl DJ; Najm J; Lachmeijer AM; Sztriha L; Martins M; Kuechler A; Haug V; Zeschnigk C; Martin P; Santos M; Vasconcelos C; Omran H; Kraus U; Van der Knaap MS; Schuierer G; Kutsche K; Uyanik G
    Clin Genet; 2008 Nov; 74(5):425-33. PubMed ID: 18954413
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 19619967
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [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. PubMed ID: 24205692
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
    Di Donato N; Timms AE; Aldinger KA; Mirzaa GM; Bennett JT; Collins S; Olds C; Mei D; Chiari S; Carvill G; Myers CT; Rivière JB; Zaki MS; ; Gleeson JG; Rump A; Conti V; Parrini E; Ross ME; Ledbetter DH; Guerrini R; Dobyns WB
    Genet Med; 2018 Nov; 20(11):1354-1364. PubMed ID: 29671837
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy].
    Li W; Zhang MP; Hou ZJ; Zeng T; Tang B; Liu XR
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb; 30(1):74-8. PubMed ID: 23450485
    [TBL] [Abstract][Full Text] [Related]  

  • 11. New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
    Bahi-Buisson N; Souville I; Fourniol FJ; Toussaint A; Moores CA; Houdusse A; Lemaitre JY; Poirier K; Khalaf-Nazzal R; Hully M; Leger PL; Elie C; Boddaert N; Beldjord C; Chelly J; Francis F;
    Brain; 2013 Jan; 136(Pt 1):223-44. PubMed ID: 23365099
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.
    Takeshita S; Higuchi M; Suyama M; Koide W; Maki K; Ushijima K; Ban K; Saito M; Kato M; Saitoh S
    Pediatr Int; 2015 Apr; 57(2):321-3. PubMed ID: 25868952
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. [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. PubMed ID: 18808783
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 18685874
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Lissencephaly: Expanded imaging and clinical classification.
    Di Donato N; Chiari S; Mirzaa GM; Aldinger K; Parrini E; Olds C; Barkovich AJ; Guerrini R; Dobyns WB
    Am J Med Genet A; 2017 Jun; 173(6):1473-1488. PubMed ID: 28440899
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics.
    Lin JR; Cheng JF; Liu YT; Hsu TR; Lin KM; Chen C; Lin CL; Tsai MH; Tsai JW
    Epilepsia; 2022 May; 63(5):1253-1265. PubMed ID: 35213059
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
    Dobyns WB
    Epilepsia; 2010 Feb; 51 Suppl 1():5-9. PubMed ID: 20331703
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 19.