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Items: 1 to 20 of 145

1.

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.

des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrié A, Gelot A, Dupuis E, Motte J, Berwald-Netter Y, Catala M, Kahn A, Beldjord C, Chelly J.

Cell. 1998 Jan 9;92(1):51-61.

2.

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.

3.

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.

4.

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.

Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA.

Cell. 1998 Jan 9;92(1):63-72.

5.

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

des Portes V, Pinard JM, Smadja D, Motte J, Boespflüg-Tanguy O, Moutard ML, Desguerre I, Billuart P, Carrie A, Bienvenu T, Vinet MC, Bachner L, Beldjord C, Dulac O, Kahn A, Ponsot G, Chelly J.

J Med Genet. 1997 Mar;34(3):177-83.

6.

Cloning and developmental expression of the murine homolog of doublecortin.

Matsuo N, Kawamoto S, Matsubara K, Okubo K.

Biochem Biophys Res Commun. 1998 Nov 27;252(3):571-6.

PMID:
9837748
7.

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
8.

Genes that regulate neuronal migration in the cerebral cortex.

Allen KM, Walsh CA.

Epilepsy Res. 1999 Sep;36(2-3):143-54. Review.

PMID:
10515162
9.

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
10.

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.

Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA.

Hum Mol Genet. 1997 Apr;6(4):555-62.

11.

Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.

Pinard JM, Motte J, Chiron C, Brian R, Andermann E, Dulac O.

J Neurol Neurosurg Psychiatry. 1994 Aug;57(8):914-20.

12.

Neuronal migration disorders, genetics, and epileptogenesis.

Guerrini R, Filippi T.

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

PMID:
15921228
13.

Doublecortin functions at the extremities of growing neuronal processes.

Friocourt G, Koulakoff A, Chafey P, Boucher D, Fauchereau F, Chelly J, Francis F.

Cereb Cortex. 2003 Jun;13(6):620-6. Review.

14.

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.

15.

X-linked subcortical laminar heterotopia and lissencephaly: a new family.

Puche A, Rodriguez T, Domingo R, Casas C, Vicente T, Martinez-Lage JF.

Neuropediatrics. 1998 Oct;29(5):276-8.

PMID:
9810565
16.

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 31;69(5):442-7.

PMID:
17664403
17.

Expression of doublecortin correlates with neuronal migration and pattern formation in diverse regions of the developing chick brain.

Hannan AJ, Henke RC, Seeto GS, Capes-Davis A, Dunn J, Jeffrey PL.

J Neurosci Res. 1999 Mar 1;55(5):650-7.

PMID:
10082087
18.

Expression and chromosomal localization of KIAA0369, a putative kinase structurally related to Doublecortin.

Omori Y, Suzuki M, Ozaki K, Harada Y, Nakamura Y, Takahashi E, Fujiwara T.

J Hum Genet. 1998;43(3):169-77.

PMID:
9747029
19.

Identification of a novel human doublecortin-domain-containing gene (DCDC1) expressed mainly in testis.

Zeng L, Gu S, Li Y, Zhao E, Xu J, Ye X, Wu Q, Wang L, Xie Y, Mao Y.

J Hum Genet. 2003;48(7):393-6. Epub 2003 Jun 18.

PMID:
12820024
20.

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.

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