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Journal Abstract Search

296 related items for PubMed ID: 30089473

  • 1. FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
    Cannaerts E, Shukla A, Hasanhodzic M, Alaerts M, Schepers D, Van Laer L, Girisha KM, Hojsak I, Loeys B, Verstraeten A.
    BMC Med Genet; 2018 Aug 08; 19(1):140. PubMed ID: 30089473
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  • 2. Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
    Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M.
    Am J Med Genet A; 2017 Jan 08; 173(1):169-176. PubMed ID: 27739212
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  • 5. 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 08; 21(5):494-502. PubMed ID: 23032111
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  • 7. 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 08; 129(Pt 7):1892-906. PubMed ID: 16684786
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  • 10. Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
    Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R.
    J Med Genet; 2015 Jun 08; 52(6):405-12. PubMed ID: 25755106
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  • 11. Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.
    Masruha MR, Caboclo LO, Carrete H, 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 08; 47(1):211-4. PubMed ID: 16417552
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  • 13. A review of filamin A mutations and associated interstitial lung disease.
    Sasaki E, Byrne AT, Phelan E, Cox DW, Reardon W.
    Eur J Pediatr; 2019 Feb 08; 178(2):121-129. PubMed ID: 30547349
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  • 18. 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. PubMed ID: 26471271
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  • 19. Association of mutations in FLNA with craniosynostosis.
    Fennell N, Foulds N, Johnson DS, Wilson LC, Wyatt M, Robertson SP, Johnson D, Wall SA, Wilkie AO.
    Eur J Hum Genet; 2015 Dec 15; 23(12):1684-8. PubMed ID: 25873011
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  • 20. Novel no-stop FLNA mutation causes multi-organ involvement in males.
    Oegema R, Hulst JM, Theuns-Valks SD, van Unen LM, Schot R, Mancini GM, Schipper ME, de Wit MC, Sibbles BJ, de Coo IF, Nanninga V, Hofstra RM, Halley DJ, Brooks AS.
    Am J Med Genet A; 2013 Sep 15; 161A(9):2376-84. PubMed ID: 23873601
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