589 related articles for article (PubMed ID: 11749114)
21. 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]
22. 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]
23. Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Guerrini R; Moro F; Andermann E; Hughes E; D'Agostino D; Carrozzo R; Bernasconi A; Flinter F; Parmeggiani L; Volzone A; Parrini E; Mei D; Jarosz JM; Morris RG; Pratt P; Tortorella G; Dubeau F; Andermann F; Dobyns WB; Das S
Ann Neurol; 2003 Jul; 54(1):30-7. PubMed ID: 12838518
[TBL] [Abstract][Full Text] [Related]
24. Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.
Mei D; Parrini E; Pasqualetti M; Tortorella G; Franzoni E; Giussani U; Marini C; Migliarini S; Guerrini R
Neurology; 2007 Feb; 68(6):446-50. PubMed ID: 17283321
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. [Subcortical laminal heterotopia and lissencephaly: cerebral malformations of X-linked inheritance].
Pinard JM; Desguerre I; Motte J; Dulac O; Ponsot G
Rev Neurol (Paris); 1995 Mar; 151(3):171-6. PubMed ID: 7676153
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
Moro F; Carrozzo R; Veggiotti P; Tortorella G; Toniolo D; Volzone A; Guerrini R
Neurology; 2002 Mar; 58(6):916-21. PubMed ID: 11914408
[TBL] [Abstract][Full Text] [Related]
30. Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.
Spalice A; Parisi P; Nicita F; Pizzardi G; Del Balzo F; Iannetti P
Acta Paediatr; 2009 Mar; 98(3):421-33. PubMed ID: 19120042
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. 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]
34. 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]
35. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
Fergelot P; Coupry I; Rooryck C; Deforges J; Maurat E; Solé G; Boute O; Dieux-Coeslier A; David A; Marchal C; Thambo JB; Lacombe D; Arveiler B; Goizet C
Eur J Med Genet; 2012 May; 55(5):313-8. PubMed ID: 22366253
[TBL] [Abstract][Full Text] [Related]
36. Missense mutations resulting in type 1 lissencephaly.
Reiner O; Coquelle FM
Cell Mol Life Sci; 2005 Feb; 62(4):425-34. PubMed ID: 15719169
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. X-linked malformations of cortical development.
Leventer RJ; Mills PL; Dobyns WB
Am J Med Genet; 2000; 97(3):213-20. PubMed ID: 11449490
[TBL] [Abstract][Full Text] [Related]
39. A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.
Kim MK; Park MS; Kim BC; Cho KH; Kim YS; Kim JH; Lee MC; Heo T; Kim EY
J Korean Med Sci; 2005 Aug; 20(4):670-3. PubMed ID: 16100463
[TBL] [Abstract][Full Text] [Related]
40. Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin.
Gleeson JG
Curr Opin Neurol; 2000 Apr; 13(2):121-5. PubMed ID: 10987567
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
