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Results: 1 to 20 of 37

1.

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.

de Wit MC, de Coo IF, Halley DJ, Lequin MH, Mancini GM.

Neurogenetics. 2009 Oct;10(4):333-6. doi: 10.1007/s10048-009-0192-2. Epub 2009 Apr 22.

PMID:
19384555
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R.

Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10.

PMID:
19073947
[PubMed - indexed for MEDLINE]
3.

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.

Ferland RJ, Batiz LF, Neal J, Lian G, Bundock E, Lu J, Hsiao YC, Diamond R, Mei D, Banham AH, Brown PJ, Vanderburg CR, Joseph J, Hecht JL, Folkerth R, Guerrini R, Walsh CA, Rodriguez EM, Sheen VL.

Hum Mol Genet. 2009 Feb 1;18(3):497-516. doi: 10.1093/hmg/ddn377. Epub 2008 Nov 7.

PMID:
18996916
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process.

Tsuneda SS, Torres FR, Montenegro MA, Guerreiro MM, Cendes F, Lopes-Cendes I.

J Mol Neurosci. 2008 Jun;35(2):195-200. doi: 10.1007/s12031-008-9050-1. Epub 2008 Apr 22.

PMID:
18427995
[PubMed - indexed for MEDLINE]
5.

Periventricular heterotopia in fragile X syndrome.

Moro F, Pisano T, Bernardina BD, Polli R, Murgia A, Zoccante L, Darra F, Battaglia A, Pramparo T, Zuffardi O, Guerrini R.

Neurology. 2006 Aug 22;67(4):713-5.

PMID:
16924033
[PubMed - indexed for MEDLINE]
6.

Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia.

Neal J, Apse K, Sahin M, Walsh CA, Sheen VL.

Am J Med Genet A. 2006 Aug 1;140(15):1692-5. No abstract available.

PMID:
16835933
[PubMed - indexed for MEDLINE]
7.

Filamin a, periventricular nodular heterotopia, and West syndrome.

Robertson SP.

Epilepsia. 2006 Jun;47(6):1082; author reply 1082-3. No abstract available.

PMID:
16822260
[PubMed - indexed for MEDLINE]
8.

Periventricular nodular heterotopia and Williams syndrome.

Ferland RJ, Gaitanis JN, Apse K, Tantravahi U, Walsh CA, Sheen VL.

Am J Med Genet A. 2006 Jun 15;140(12):1305-11.

PMID:
16691586
[PubMed - indexed for MEDLINE]
9.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.

Brain. 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9.

PMID:
16684786
[PubMed - indexed for MEDLINE]
Free Article
10.

Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.

Gérard-Blanluet M, Sheen V, Machinis K, Neal J, Apse K, Danan C, Sinico M, Brugières P, Mage K, Ratsimbazafy L, Elbez A, Janaud JC, Amselem S, Walsh C, Encha-Razavi F.

Am J Med Genet A. 2006 May 15;140(10):1041-6.

PMID:
16596669
[PubMed - indexed for MEDLINE]
11.

Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.

Masruha MR, Caboclo LO, Carrete H Jr, Cendes IL, Rodrigues MG, Garzon E, Yacubian EM, Sakamoto AC, Sheen V, Harney M, Neal J, Hill RS, Bodell A, Walsh C, Vilanova LC.

Epilepsia. 2006 Jan;47(1):211-4.

PMID:
16417552
[PubMed - indexed for MEDLINE]
12.

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

Hehr U, Hehr A, Uyanik G, Phelan E, Winkler J, Reardon W.

J Med Genet. 2006 Jun;43(6):541-4. Epub 2005 Nov 18.

PMID:
16299064
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Periventricular heterotopia.

Lu J, Sheen V.

Epilepsy Behav. 2005 Sep;7(2):143-9. Review.

PMID:
15996530
[PubMed - indexed for MEDLINE]
14.

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA.

Neurology. 2005 Jan 25;64(2):254-62.

PMID:
15668422
[PubMed - indexed for MEDLINE]
15.

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

Parrini E, Mei D, Wright M, Dorn T, Guerrini R.

Neurogenetics. 2004 Sep;5(3):191-6. Epub 2004 Jul 28.

PMID:
15459826
[PubMed - indexed for MEDLINE]
16.

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.

Sheen VL, Basel-Vanagaite L, Goodman JR, Scheffer IE, Bodell A, Ganesh VS, Ravenscroft R, Hill RS, Cherry TJ, Shugart YY, Barkovich J, Straussberg R, Walsh CA.

Brain Dev. 2004 Aug;26(5):326-34.

PMID:
15165674
[PubMed - indexed for MEDLINE]
17.

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.

Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA.

Nat Genet. 2004 Jan;36(1):69-76. Epub 2003 Nov 30.

PMID:
14647276
[PubMed - indexed for MEDLINE]
18.

Autosomal recessive form of periventricular heterotopia.

Sheen VL, Topçu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill RS, Ganesh VS, Cherry TJ, Shugart YY, Walsh CA.

Neurology. 2003 Apr 8;60(7):1108-12.

PMID:
12682315
[PubMed - indexed for MEDLINE]
19.

Periventricular heterotopia associated with chromosome 5p anomalies.

Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH.

Neurology. 2003 Mar 25;60(6):1033-6.

PMID:
12654978
[PubMed - indexed for MEDLINE]
20.

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group.

Nat Genet. 2003 Apr;33(4):487-91. Epub 2003 Mar 3.

PMID:
12612583
[PubMed - indexed for MEDLINE]

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