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Items: 1 to 20 of 111

1.

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.

Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA.

Am J Hum Genet. 2000 Sep;67(3):574-81. Epub 2000 Jul 27.

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.

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. doi: 10.1016/j.ejpn.2016.05.010. Epub 2016 May 30.

PMID:
27292316
4.

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.

5.

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
6.

Somatic mosaicism in hemophilia A: a fairly common event.

Leuer M, Oldenburg J, Lavergne JM, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek K.

Am J Hum Genet. 2001 Jul;69(1):75-87. Epub 2001 Jun 14.

7.

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.

8.

[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. Japanese.

PMID:
24205692
9.

Germ-line mosaicism in tuberous sclerosis: how common?

Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H.

Am J Hum Genet. 1999 Apr;64(4):986-92.

10.

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.

PMID:
9817918
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; SBH-LIS European Consortium.

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

12.

Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.

Rantamäki T, Kaitila I, Syvänen AC, Lukka M, Peltonen L.

Am J Hum Genet. 1999 Apr;64(4):993-1001.

13.

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.

PMID:
10441340
14.

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P.

Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31.

15.

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R.

Neurology. 2003 Oct 28;61(8):1042-6.

PMID:
14581661
16.

Genetic and neuroradiological heterogeneity of double cortex syndrome.

Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA.

Ann Neurol. 2000 Feb;47(2):265-9.

PMID:
10665503
17.

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. Epub 2008 Aug 7.

PMID:
18685874
18.

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

Guerrini R, Carrozzo R.

Seizure. 2002 Apr;11 Suppl A:532-43; quiz 544-7. Review.

PMID:
12185771
19.

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E.

Neurology. 2004 Jul 13;63(1):51-6.

PMID:
15249610
20.

Smooth mosaics: genotype and phenotype in lissencephaly.

Jung HH.

Neurology. 2007 Jul 31;69(5):425-6. No abstract available.

PMID:
17664400

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