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Journal Abstract Search

183 related items for PubMed ID: 20598277

  • 1. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
    Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH.
    Am J Hum Genet; 2010 Jul 09; 87(1):146-53. PubMed ID: 20598277
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  • 3. Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review.
    Li Z, Xie Y, Xiao Q, Wang L.
    J Dermatol; 2020 Mar 09; 47(3):295-299. PubMed ID: 31919883
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  • 4. Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.
    Connor CJ, Shchelochkov OA, Ciliberto H.
    Am J Med Genet A; 2015 Oct 09; 167A(10):2459-62. PubMed ID: 26059211
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  • 13. Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.
    Baroncini A, Castelluccio P, Morleo M, Soli F, Franco B.
    Am J Med Genet A; 2007 Jan 01; 143A(1):51-7. PubMed ID: 17152064
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  • 15. 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 01; 26(5):326-34. PubMed ID: 15165674
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  • 17. 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 01; 129(Pt 7):1892-906. PubMed ID: 16684786
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  • 20. Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.
    Brunetti-Pierri N, Torrado M, Fernandez Mdel C, Tello AM, Arberas CL, Cardinale A, Piccolo P, Bacino CA.
    Mol Genet Genomic Med; 2014 Nov 01; 2(6):467-71. PubMed ID: 25614868
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