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Items: 1 to 20 of 115

1.

Novel cardiac findings in periventricular nodular heterotopia.

Jefferies JL, Taylor MD, Rossano J, Belmont JW, Craigen WJ.

Am J Med Genet A. 2010 Jan;152A(1):165-8. doi: 10.1002/ajmg.a.33110.

PMID:
20014127
2.

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
3.

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

Fox JW, Lamperti ED, Ekşioğlu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA.

Neuron. 1998 Dec;21(6):1315-25.

4.

Periventricular nodular heterotopia with overlying polymicrogyria.

Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, Ramazzotti A, Guerrini R, Dobyns WB.

Brain. 2005 Dec;128(Pt 12):2811-21.

PMID:
16311271
5.

Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.

Kakita A, Hayashi S, Moro F, Guerrini R, Ozawa T, Ono K, Kameyama S, Walsh CA, Takahashi H.

Acta Neuropathol. 2002 Dec;104(6):649-57. Epub 2002 Jul 23.

PMID:
12410386
6.

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
7.

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. doi: 10.1016/j.ejmg.2012.01.018. Epub 2012 Feb 8.

PMID:
22366253
8.

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.

Carabalona A, Beguin S, Pallesi-Pocachard E, Buhler E, Pellegrino C, Arnaud K, Hubert P, Oualha M, Siffroi JP, Khantane S, Coupry I, Goizet C, Gelot AB, Represa A, Cardoso C.

Hum Mol Genet. 2012 Mar 1;21(5):1004-17. doi: 10.1093/hmg/ddr531. Epub 2011 Nov 10.

PMID:
22076441
9.

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
10.

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

Gómez-Garre P, Seijo M, Gutiérrez-Delicado E, Castro del Río M, de la Torre C, Gómez-Abad C, Morales-Corraliza J, Puig M, Serratosa JM.

J Med Genet. 2006 Mar;43(3):232-7. Epub 2005 Jul 1.

11.
12.

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.

Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L.

Eur J Med Genet. 2011 Jan-Feb;54(1):25-8. doi: 10.1016/j.ejmg.2010.09.010. Epub 2010 Oct 1.

PMID:
20888935
13.

FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.

Kunishima S, Ito-Yamamura Y, Hayakawa A, Yamamoto T, Saito H.

J Hum Genet. 2010 Dec;55(12):844-6. doi: 10.1038/jhg.2010.114. Epub 2010 Sep 16.

PMID:
20844545
14.

Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.

Reinstein E, Chang BS, Robertson SP, Rimoin DL, Katzir T.

Am J Med Genet A. 2012 Aug;158A(8):1897-901. doi: 10.1002/ajmg.a.35455. Epub 2012 Jun 27.

PMID:
22740120
15.

Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.

Mandelstam SA, Leventer RJ, Sandow A, McGillivray G, van Kogelenberg M, Guerrini R, Robertson S, Berkovic SF, Jackson GD, Scheffer IE.

AJNR Am J Neuroradiol. 2013 Feb;34(2):432-8. doi: 10.3174/ajnr.A3427. Epub 2013 Jan 24.

16.

Combined cardiological and neurological abnormalities due to filamin A gene mutation.

de Wit MC, de Coo IF, Lequin MH, Halley DJ, Roos-Hesselink JW, Mancini GM.

Clin Res Cardiol. 2011 Jan;100(1):45-50. doi: 10.1007/s00392-010-0206-y. Epub 2010 Aug 22.

17.

Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.

Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA.

Pediatr Radiol. 2000 Nov;30(11):748-55.

PMID:
11100490
18.

Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia.

Gomez-Garre P, Serratosa JM.

Hum Genet. 2005 Dec;118(3-4):545. No abstract available.

PMID:
16521297
19.

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.

20.

Structure of the human filamin A actin-binding domain.

Ruskamo S, Ylänne J.

Acta Crystallogr D Biol Crystallogr. 2009 Nov;65(Pt 11):1217-21. doi: 10.1107/S0907444909037330. Epub 2009 Oct 22.

PMID:
19923718

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