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Journal Abstract Search

380 related items for PubMed ID: 12612583

  • 1. 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
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  • 5. 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
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  • 7. 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 15; 152A(3):726-31. PubMed ID: 20186808
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  • 8. 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
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  • 9. 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 15; 43(6):541-4. PubMed ID: 16299064
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  • 11. Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
    Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI.
    Am J Med Genet A; 2007 May 15; 143A(10):1120-5. PubMed ID: 17431908
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  • 12. Structure of the human filamin A actin-binding domain.
    Ruskamo S, Ylänne J.
    Acta Crystallogr D Biol Crystallogr; 2009 Nov 15; 65(Pt 11):1217-21. PubMed ID: 19923718
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