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Items: 1 to 20 of 123

1.

Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.

Demelas L, Serra G, Conti M, Achene A, Mastropaolo C, Matsumoto N, Dudlicek LL, Mills PL, Dobyns WB, Ledbetter DH, Das S.

Neurology. 2001 Jul 24;57(2):327-30.

PMID:
11468322
2.

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.

Aigner L, Uyanik G, Couillard-Despres S, Ploetz S, Wolff G, Morris-Rosendahl D, Martin P, Eckel U, Spranger S, Otte J, Woerle H, Holthausen H, Apheshiotis N, Fluegel D, Winkler J.

Neurology. 2003 Jan 28;60(2):329-32.

PMID:
12552055
3.

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB.

Eur J Hum Genet. 2001 Jan;9(1):5-12.

4.

Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence.

Sakamoto M, Ono J, Okada S, Nakamura Y, Kurahashi H.

J Hum Genet. 2000;45(3):167-70.

PMID:
10807542
5.

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.

PMID:
12838518
6.

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. doi: 10.1007/s10048-008-0141-5.

PMID:
18685874
7.

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.

Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ.

Neurology. 1999 Jul 22;53(2):270-7.

PMID:
10430413
8.

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH.

Hum Mol Genet. 1999 Sep;8(9):1757-60.

9.

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.

Sossey-Alaoui K, Hartung AJ, Guerrini R, Manchester DK, Posar A, Puche-Mira A, Andermann E, Dobyns WB, Srivastava AK.

Hum Mol Genet. 1998 Aug;7(8):1327-32.

10.

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; SBH-LIS European Consortium..

Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323.

11.

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.

D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E.

Brain. 2002 Nov;125(Pt 11):2507-22.

12.

Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.

Poolos NP, Das S, Clark GD, Lardizabal D, Noebels JL, Wyllie E, Dobyns WB.

Neurology. 2002 May 28;58(10):1559-62.

PMID:
12034802
13.

Missense mutations resulting in type 1 lissencephaly.

Reiner O, Coquelle FM.

Cell Mol Life Sci. 2005 Feb;62(4):425-34. Review.

PMID:
15719169
14.

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB.

Neurology. 2001 Aug 14;57(3):416-22.

PMID:
11502906
15.

Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects.

Deconinck N, Duprez T, des Portes V, Beldjord C, Ghariani S, Sindic CJ, S├ębire G.

Neuropediatrics. 2003 Jun;34(3):146-8.

PMID:
12910438
16.

A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.

Kato M, Kimura T, Lin C, Ito A, Kodama S, Morikawa T, Soga T, Hayasaka K.

Hum Genet. 1999 Apr;104(4):341-4.

PMID:
10369164
17.

Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.

Leventer RJ, Pilz DT, Matsumoto N, Ledbetter DH, Dobyns WB.

Mol Med Today. 2000 Jul;6(7):277-84. Review.

PMID:
10859564
18.

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.

19.

Neuronal migration disorders, genetics, and epileptogenesis.

Guerrini R, Filippi T.

J Child Neurol. 2005 Apr;20(4):287-99. Review.

PMID:
15921228
20.

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).

des Portes V, Francis F, Pinard JM, Desguerre I, Moutard ML, Snoeck I, Meiners LC, Capron F, Cusmai R, Ricci S, Motte J, Echenne B, Ponsot G, Dulac O, Chelly J, Beldjord C.

Hum Mol Genet. 1998 Jul;7(7):1063-70.

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