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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

246 related items for PubMed ID: 11320179

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  • 2. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.
    Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE.
    Am J Hum Genet; 1999 Jan; 64(1):126-35. PubMed ID: 9915951
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  • 6. Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.
    Ranta S, Pihko H, Santavuori P, Tahvanainen E, de la Chapelle A.
    Neuromuscul Disord; 1995 May; 5(3):221-5. PubMed ID: 7633187
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  • 7. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
    Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T.
    Hum Mol Genet; 2003 Mar 01; 12(5):527-34. PubMed ID: 12588800
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  • 8. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
    Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG.
    Am J Hum Genet; 2002 Nov 01; 71(5):1033-43. PubMed ID: 12369018
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  • 9. Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.
    Zervos A, Hunt KE, Tong HQ, Avallone J, Morales J, Friedman N, Cohen BH, Clark B, Guo S, Gazda H, Beggs AH, Traboulsi EI.
    Eur J Ophthalmol; 2002 Nov 01; 12(4):253-61. PubMed ID: 12219993
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  • 11. [Fukuyama-type congenital muscular dystrophy with the presence of ocular anomalies].
    Castellacci AM, Gualtierotti R, Santillo G, Simoni F, Pieroni O, Pazzaglia R.
    Pediatr Med Chir; 1992 Nov 01; 14(2):223-6. PubMed ID: 1508760
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  • 15. Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy.
    Saito K, Osawa M, Wang ZP, Ikeya K, Fukuyama Y, Kondo-Iida E, Toda T, Ohashi H, Kurosawa K, Wakai S, Kaneko K.
    Am J Med Genet; 2000 May 29; 92(3):184-90. PubMed ID: 10817652
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  • 16. Diagnostic criteria for Walker-Warburg syndrome.
    Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M.
    Am J Med Genet; 1989 Feb 29; 32(2):195-210. PubMed ID: 2494887
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  • 18. A case of Walker-Warburg syndrome.
    Asano Y, Minagawa K, Okuda A, Matsui T, Ando K, Kondo-Iida E, Kobayashi O, Toda T, Nonaka I, Tanizawa T.
    Brain Dev; 2000 Oct 29; 22(7):454-7. PubMed ID: 11102733
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  • 19. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
    Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA.
    Hum Mutat; 2008 Nov 29; 29(11):E231-41. PubMed ID: 18752264
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  • 20. Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
    Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K.
    Congenit Anom (Kyoto); 2003 Jun 29; 43(2):97-104. PubMed ID: 12893968
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