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255 related items for PubMed ID: 20888935

  • 1. 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; 54(1):25-8. PubMed ID: 20888935
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 16684786
    [Abstract] [Full Text] [Related]

  • 3. Lung disease in FLNA mutation: confirmatory report.
    de Wit MC, Tiddens HA, de Coo IF, Mancini GM.
    Eur J Med Genet; 2011 Jul; 54(3):299-300. PubMed ID: 21194575
    [Abstract] [Full Text] [Related]

  • 4. 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. PubMed ID: 12612583
    [Abstract] [Full Text] [Related]

  • 5. A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
    Hehr U, Hehr A, Uyanik G, Phelan E, Winkler J, Reardon W.
    J Med Genet; 2006 Jun; 43(6):541-4. PubMed ID: 16299064
    [Abstract] [Full Text] [Related]

  • 6. 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. PubMed ID: 20844545
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 22366253
    [Abstract] [Full Text] [Related]

  • 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 01; 21(5):1004-17. PubMed ID: 22076441
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 47(1):211-4. PubMed ID: 16417552
    [Abstract] [Full Text] [Related]

  • 10. Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
    Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AO, Manouvrier-Hanu S.
    Eur J Hum Genet; 2006 May 01; 14(5):549-54. PubMed ID: 16538226
    [Abstract] [Full Text] [Related]

  • 11. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
    Robertson SP.
    Eur J Hum Genet; 2007 Jan 01; 15(1):3-9. PubMed ID: 16926860
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 80(12):1394-8. PubMed ID: 19917821
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 52(6):405-12. PubMed ID: 25755106
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 21(5):494-502. PubMed ID: 23032111
    [Abstract] [Full Text] [Related]

  • 15. Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia.
    Gomez-Garre P, Serratosa JM.
    Hum Genet; 2005 Dec 01; 118(3-4):545. PubMed ID: 16521297
    [No Abstract] [Full Text] [Related]

  • 16. 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 01; 43(3):232-7. PubMed ID: 15994863
    [Abstract] [Full Text] [Related]

  • 17. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
    Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA.
    Neurology; 2005 Jan 25; 64(2):254-62. PubMed ID: 15668422
    [Abstract] [Full Text] [Related]

  • 18. Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
    Santos HH, Garcia PP, Pereira L, Leão LL, Aguiar RA, Lana AM, Carvalho MR, Aguiar MJ.
    Am J Med Genet A; 2010 Mar 25; 152A(3):726-31. PubMed ID: 20186808
    [Abstract] [Full Text] [Related]

  • 19. Lung disease associated with filamin A gene mutation: a case report.
    Eltahir S, Ahmad KS, Al-Balawi MM, Bukhamsien H, Al-Mobaireek K, Alotaibi W, Al-Shamrani A.
    J Med Case Rep; 2016 Apr 18; 10():97. PubMed ID: 27091362
    [Abstract] [Full Text] [Related]

  • 20. Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.
    Zenker M, Nährlich L, Sticht H, Reis A, Horn D.
    Am J Med Genet A; 2006 May 15; 140(10):1069-73. PubMed ID: 16596676
    [Abstract] [Full Text] [Related]

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