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Journal Abstract Search

287 related items for PubMed ID: 17953949

  • 1. Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy.
    Girardet A, Fernandez C, Claustres M.
    Fertil Steril; 2008 Aug; 90(2):443.e7-12. PubMed ID: 17953949
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  • 2. Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene.
    Moutou C, Machev N, Gardes N, Viville S.
    Prenat Diagn; 2006 Nov; 26(11):1037-41. PubMed ID: 16941715
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  • 3. Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.
    Botta A, Tacconelli A, Bagni I, Giardina E, Bonifazi E, Pietropolli A, Clementi M, Novelli G.
    Neurology; 2005 Nov 22; 65(10):1631-5. PubMed ID: 16301493
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  • 4. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
    Ogino S, Wilson RB.
    Hum Genet; 2002 Dec 22; 111(6):477-500. PubMed ID: 12436240
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  • 6. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.
    Su YN, Hung CC, Li H, Lee CN, Cheng WF, Tsao PN, Chang MC, Yu CL, Hsieh WS, Lin WL, Hsu SM.
    Hum Mutat; 2005 May 22; 25(5):460-7. PubMed ID: 15832310
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  • 9. Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis.
    Chen WJ, Wu ZY, Lin MT, Su JF, Lin Y, Murong SX, Wang N.
    Arch Neurol; 2007 Feb 22; 64(2):225-31. PubMed ID: 17296838
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  • 10. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.
    Martín Y, Valero A, del Castillo E, Pascual SI, Hernández-Chico C.
    Hum Genet; 2002 Mar 22; 110(3):257-63. PubMed ID: 11935338
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  • 11. Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.
    Majumdar R, Rehana Z, Al Jumah M, Fetaini N.
    Ann Hum Genet; 2005 Mar 22; 69(Pt 2):216-21. PubMed ID: 15720302
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  • 15. Population screening and cascade testing for carriers of SMA.
    Smith M, Calabro V, Chong B, Gardiner N, Cowie S, du Sart D.
    Eur J Hum Genet; 2007 Jul 22; 15(7):759-66. PubMed ID: 17392705
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  • 17. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.
    Thurmond J, Butchbach ME, Palomo M, Pease B, Rao M, Bedell L, Keyvan M, Pai G, Mishra R, Haraldsson M, Andresson T, Bragason G, Thosteinsdottir M, Bjornsson JM, Coovert DD, Burghes AH, Gurney ME, Singh J.
    J Med Chem; 2008 Feb 14; 51(3):449-69. PubMed ID: 18205293
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