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Journal Abstract Search

313 related items for PubMed ID: 17190868

  • 1. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
    Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu JN, Le Marec H, Schott JJ.
    Circulation; 2007 Jan 02; 115(1):40-9. PubMed ID: 17190868
    [Abstract] [Full Text] [Related]

  • 2. [Genetic aspects of valvulopathies].
    Kyndt F, Le Scouarnec S, Jaafar P, Gueffet JP, Legendre A, Trochu JN, Jousseaume V, Chaventré A, Schott JJ, Le Marec H, Probst V.
    Arch Mal Coeur Vaiss; 2007 Dec 02; 100(12):1013-20. PubMed ID: 18223515
    [Abstract] [Full Text] [Related]

  • 3. 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 02; 129(Pt 7):1892-906. PubMed ID: 16684786
    [Abstract] [Full Text] [Related]

  • 4. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 02; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 5. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.
    Small K, Iber J, Warren ST.
    Nat Genet; 1997 May 02; 16(1):96-9. PubMed ID: 9140403
    [Abstract] [Full Text] [Related]

  • 6. 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 02; 33(4):487-91. PubMed ID: 12612583
    [Abstract] [Full Text] [Related]

  • 7. Familial cardiac valvulopathy due to filamin A mutation.
    Bernstein JA, Bernstein D, Hehr U, Hudgins L.
    Am J Med Genet A; 2011 Sep 02; 155A(9):2236-41. PubMed ID: 21815255
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.
    Bernstein PS, Tammur J, Singh N, Hutchinson A, Dixon M, Pappas CM, Zabriskie NA, Zhang K, Petrukhin K, Leppert M, Allikmets R.
    Invest Ophthalmol Vis Sci; 2001 Dec 25; 42(13):3331-6. PubMed ID: 11726641
    [Abstract] [Full Text] [Related]

  • 10. A novel mutation of POU3F4 causes congenital profound sensorineural hearing loss in a large Chinese family.
    Wang QJ, Li QZ, Rao SQ, Zhao YL, Yuan H, Yang WY, Han DY, Shen Y.
    Laryngoscope; 2006 Jun 25; 116(6):944-50. PubMed ID: 16735904
    [Abstract] [Full Text] [Related]

  • 11. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
    Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ.
    Hum Mol Genet; 2009 Dec 15; 18(24):4791-800. PubMed ID: 19773341
    [Abstract] [Full Text] [Related]

  • 12. Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction.
    Kapur RP, Robertson SP, Hannibal MC, Finn LS, Morgan T, van Kogelenberg M, Loren DJ.
    Am J Surg Pathol; 2010 Oct 15; 34(10):1528-43. PubMed ID: 20871226
    [Abstract] [Full Text] [Related]

  • 13. Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects.
    Lardeux A, Kyndt F, Lecointe S, Marec HL, Merot J, Schott JJ, Le Tourneau T, Probst V.
    J Cardiovasc Transl Res; 2011 Dec 15; 4(6):748-56. PubMed ID: 21773876
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 26(5):326-34. PubMed ID: 15165674
    [Abstract] [Full Text] [Related]

  • 15. The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.
    Zatz M, Marie SK, Cerqueira A, Vainzof M, Pavanello RC, Passos-Bueno MR.
    Am J Med Genet; 1998 May 01; 77(2):155-61. PubMed ID: 9605290
    [Abstract] [Full Text] [Related]

  • 16. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.
    Aldave AJ, Rayner SA, Salem AK, Yoo GL, Kim BT, Saeedian M, Sonmez B, Yellore VS.
    Invest Ophthalmol Vis Sci; 2006 Sep 01; 47(9):3787-90. PubMed ID: 16936088
    [Abstract] [Full Text] [Related]

  • 17. The genetic spectrum of a population-based sample of familial hemiplegic migraine.
    Thomsen LL, Kirchmann M, Bjornsson A, Stefansson H, Jensen RM, Fasquel AC, Petursson H, Stefansson M, Frigge ML, Kong A, Gulcher J, Stefansson K, Olesen J.
    Brain; 2007 Feb 01; 130(Pt 2):346-56. PubMed ID: 17142831
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 55(5):313-8. PubMed ID: 22366253
    [Abstract] [Full Text] [Related]

  • 19. Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).
    Omoto S, Hayashi T, Kitahara K, Takeuchi T, Ueoka Y.
    Ophthalmic Genet; 2004 Jun 01; 25(2):81-90. PubMed ID: 15370539
    [Abstract] [Full Text] [Related]

  • 20. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.
    Udar N, Yelchits S, Chalukya M, Yellore V, Nusinowitz S, Silva-Garcia R, Vrabec T, Hussles Maumenee I, Donoso L, Small KW.
    Hum Mutat; 2003 Feb 01; 21(2):170-1. PubMed ID: 12552567
    [Abstract] [Full Text] [Related]

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