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Items: 20

1.

Massive obesity and hyperphagia in posterior bilateral periventricular heterotopias: case report.

Guglielmi V, Floris R, D'Adamo M, Garaci F, Novelli G, Sbraccia P.

BMC Med Genet. 2016 Mar 9;17:18. doi: 10.1186/s12881-016-0282-6.

2.

47 patients with FLNA associated periventricular nodular heterotopia.

Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U.

Orphanet J Rare Dis. 2015 Oct 15;10:134. doi: 10.1186/s13023-015-0331-9.

3.

Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome.

Savasta S, Verrotti A, Spartà MV, Foiadelli T, Villa MP, Parisi P.

Epilepsy Behav Case Rep. 2015 Jun 14;4:27-9. doi: 10.1016/j.ebcr.2015.05.004. eCollection 2015.

4.

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.

Oda H, Sato T, Kunishima S, Nakagawa K, Izawa K, Hiejima E, Kawai T, Yasumi T, Doi H, Katamura K, Numabe H, Okamoto S, Nakase H, Hijikata A, Ohara O, Suzuki H, Morisaki H, Morisaki T, Nunoi H, Hattori S, Nishikomori R, Heike T.

Eur J Hum Genet. 2016 Mar;24(3):408-14. doi: 10.1038/ejhg.2015.119. Epub 2015 Jun 10.

PMID:
26059841
5.

Cytoskeletal proteins in cortical development and disease: actin associated proteins in periventricular heterotopia.

Lian G, Sheen VL.

Front Cell Neurosci. 2015 Apr 1;9:99. doi: 10.3389/fncel.2015.00099. eCollection 2015. Review.

6.

Germline mosaicism in X-linked periventricular nodular heterotopia.

LaPointe MM, Spriggs EL, Mhanni AA.

BMC Neurol. 2014 Jun 7;14:125. doi: 10.1186/1471-2377-14-125.

7.

Filamin A and Big2: a shared endocytic pathway.

Sheen VL.

Bioarchitecture. 2014 Mar-Apr;4(2):53-7. doi: 10.4161/bioa.28516. Epub 2014 Apr 7.

8.

Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and Disease.

Sheen VL.

Scientifica (Cairo). 2012;2012:480129. doi: 10.6064/2012/480129. Epub 2012 Oct 22. Review.

9.

Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI.

González G, Vedolin L, Barry B, Poduri A, Walsh C, Barkovich AJ.

AJNR Am J Neuroradiol. 2013 Apr;34(4):877-83. doi: 10.3174/ajnr.A3312. Epub 2012 Oct 11.

10.

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

Reinstein E, Frentz S, Morgan T, García-Miñaúr S, Leventer RJ, McGillivray G, Pariani M, van der Steen A, Pope M, Holder-Espinasse M, Scott R, Thompson EM, Robertson T, Coppin B, Siegel R, Bret Zurita M, Rodríguez JI, Morales C, Rodrigues Y, Arcas J, Saggar A, Horton M, Zackai E, Graham JM, Rimoin DL, Robertson SP.

Eur J Hum Genet. 2013 May;21(5):494-502. doi: 10.1038/ejhg.2012.209. Epub 2012 Oct 3.

11.

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.

Pisano T, Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, Berkovic SF, Dobyns WB, Guerrini R.

Neurology. 2012 Sep 18;79(12):1244-51. doi: 10.1212/WNL.0b013e31826aac88. Epub 2012 Aug 22.

12.

Cortical dysplasia: a possible substrate for brain tumors.

Liu S, Zhang C, Shu H, Wion D, Yang H.

Future Oncol. 2012 Mar;8(3):251-8. doi: 10.2217/fon.12.6.

13.

Seizures and X-linked intellectual disability.

Stevenson RE, Holden KR, Rogers RC, Schwartz CE.

Eur J Med Genet. 2012 May;55(5):307-12. doi: 10.1016/j.ejmg.2012.01.017. Epub 2012 Feb 8. Review.

14.

FLNA genomic rearrangements cause periventricular nodular heterotopia.

Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, Mei D, Parrini E, Funalot B, Dupuis L, Nezarati MM, du Souich C, van Karnebeek C, Guerrini R, Walsh CA.

Neurology. 2012 Jan 24;78(4):269-78. doi: 10.1212/WNL.0b013e31824365e4. Epub 2012 Jan 11.

15.

Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.

Foley C, Roberts K, Tchrakian N, Morgan T, Fryer A, Robertson SP, Tubridy N.

Mol Syndromol. 2010 Sep;1(3):121-126. Epub 2010 Sep 14.

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.

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.

18.

Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis.

Feng Y, Chen MH, Moskowitz IP, Mendonza AM, Vidali L, Nakamura F, Kwiatkowski DJ, Walsh CA.

Proc Natl Acad Sci U S A. 2006 Dec 26;103(52):19836-41. Epub 2006 Dec 15.

19.

Periventricular heterotopia: new insights into Ehlers-Danlos syndrome.

Sheen VL, Walsh CA.

Clin Med Res. 2005 Nov;3(4):229-33. Review.

20.
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