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Year | Number of Results |
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2006 | 1 |
2012 | 1 |
2013 | 1 |
2015 | 1 |
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Brain. 2006 Jul;129(Pt 7):1892-906. doi: 10.1093/brain/awl125. Epub 2006 May 9.
Brain. 2006.
PMID: 16684786
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.
Reinstein E, et al.
Eur J Hum Genet. 2013 May;21(5):494-502. doi: 10.1038/ejhg.2012.209. Epub 2012 Oct 3.
Eur J Hum Genet. 2013.
PMID: 23032111
Free PMC article.
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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.
Lange M, et al.
Orphanet J Rare Dis. 2015 Oct 15;10:134. doi: 10.1186/s13023-015-0331-9.
Orphanet J Rare Dis. 2015.
PMID: 26471271
Free PMC article.
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