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466 related items for PubMed ID: 18298318

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  • 2. 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. SMN1 dosage analysis in spinal muscular atrophy from India.
    Kesari A, Rennert H, Leonard DG, Mittal B.
    BMC Med Genet; 2005 May 23; 6():22. PubMed ID: 15910686
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  • 8. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
    Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.
    Hum Mutat; 2005 Jan 23; 25(1):64-71. PubMed ID: 15580564
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  • 9. A single strand conformation polymorphism-based carrier test for spinal muscular atrophy.
    Semprini S, Tacconelli A, Capon F, Brancati F, Dallapiccola B, Novelli G.
    Genet Test; 2001 Jan 23; 5(1):33-7. PubMed ID: 11336398
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  • 10. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
    Wirth B.
    Hum Mutat; 2000 Jan 23; 15(3):228-37. PubMed ID: 10679938
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  • 13. 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 23; 69(Pt 2):216-21. PubMed ID: 15720302
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  • 14. Prenatal diagnosis of spinal muscular atrophy: Indian scenario.
    Kesari A, Rennert H, Leonard DG, Phadke SR, Mittal B.
    Prenat Diagn; 2005 Aug 23; 25(8):641-4. PubMed ID: 16049987
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  • 15. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
    Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M.
    Neuromuscul Disord; 2006 Dec 23; 16(12):830-8. PubMed ID: 17049859
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  • 16. Spinal muscular atrophy genetic testing experience at an academic medical center.
    Ogino S, Leonard DG, Rennert H, Wilson RB.
    J Mol Diagn; 2002 Feb 23; 4(1):53-8. PubMed ID: 11826188
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  • 17. Genetic risk assessment in carrier testing for spinal muscular atrophy.
    Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB.
    Am J Med Genet; 2002 Jul 15; 110(4):301-7. PubMed ID: 12116201
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  • 18. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
    Clermont O, Burlet P, Benit P, Chanterau D, Saugier-Veber P, Munnich A, Cusin V.
    Hum Mutat; 2004 Nov 15; 24(5):417-27. PubMed ID: 15459957
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  • 19. Spinal muscular atrophy diagnostics.
    Prior TW.
    J Child Neurol; 2007 Aug 15; 22(8):952-6. PubMed ID: 17761649
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  • 20. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
    Ogino S, Wilson RB.
    Hum Genet; 2002 Dec 15; 111(6):477-500. PubMed ID: 12436240
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