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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

407 related items for PubMed ID: 15668422

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  • 3. 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; 47(1):211-4. PubMed ID: 16417552
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  • 5. 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. PubMed ID: 15165674
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  • 6. 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. PubMed ID: 23032111
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  • 7. Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
    Solé G, Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C, Souakri N, Boute O, Marchal C, Faivre L, Landré E, Debruxelles S, Dieux-Coeslier A, Boulay C, Chassagnon S, Michel V, Routon MC, Toutain A, Philip N, Lacombe D, Villard L, Arveiler B, Goizet C.
    J Neurol Neurosurg Psychiatry; 2009 Dec; 80(12):1394-8. PubMed ID: 19917821
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  • 9. Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia.
    Gomez-Garre P, Serratosa JM.
    Hum Genet; 2005 Dec; 118(3-4):545. PubMed ID: 16521297
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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; 52(6):405-12. PubMed ID: 25755106
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  • 11. A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.
    Ieda D, Hori I, Nakamura Y, Ohshita H, Negishi Y, Shinohara T, Hattori A, Kato T, Inukai S, Kitamura K, Kawai T, Ohara O, Kunishima S, Saitoh S.
    Brain Dev; 2018 Jun; 40(6):489-492. PubMed ID: 29449050
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  • 12. Periventricular heterotopia: new insights into Ehlers-Danlos syndrome.
    Sheen VL, Walsh CA.
    Clin Med Res; 2005 Nov; 3(4):229-33. PubMed ID: 16303888
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  • 14. 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; 173(1):169-176. PubMed ID: 27739212
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  • 15. 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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  • 16. 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 08; 55(5):313-8. PubMed ID: 22366253
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  • 18. 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 08; 55(12):844-6. PubMed ID: 20844545
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  • 19. Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
    Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R.
    Neurology; 2002 Mar 26; 58(6):916-21. PubMed ID: 11914408
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