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Journal Abstract Search

300 related items for PubMed ID: 12116201

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  • 2. 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; 15(7):759-66. PubMed ID: 17392705
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  • 3. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
    Ogino S, Wilson RB.
    Hum Genet; 2002 Dec; 111(6):477-500. PubMed ID: 12436240
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  • 4. 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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  • 5. 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 Nov 22; 15(3):228-37. PubMed ID: 10679938
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  • 7. 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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  • 10. Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.
    Cuscó I, Barceló MJ, Baiget M, Tizzano EF.
    Hum Mutat; 2002 Dec 22; 20(6):452-9. PubMed ID: 12442269
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  • 12. Spinal muscular atrophy: molecular genetics and diagnostics.
    Ogino S, Wilson RB.
    Expert Rev Mol Diagn; 2004 Jan 22; 4(1):15-29. PubMed ID: 14711346
    [Abstract] [Full Text] [Related]

  • 13. Best practice guidelines for molecular analysis in spinal muscular atrophy.
    Scheffer H, Cobben JM, Matthijs G, Wirth B.
    Eur J Hum Genet; 2001 Jul 22; 9(7):484-91. PubMed ID: 11464239
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  • 14. Spinal muscular atrophy diagnostics.
    Prior TW.
    J Child Neurol; 2007 Aug 22; 22(8):952-6. PubMed ID: 17761649
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  • 18. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.
    Gérard B, Ginet N, Matthijs G, Evrard P, Baumann C, Da Silva F, Gérard-Blanluet M, Mayer M, Grandchamp B, Elion J.
    Hum Mutat; 2000 Sep 22; 16(3):253-63. PubMed ID: 10980532
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  • 19. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations.
    Ogino S, Wilson RB, Gold B.
    Eur J Hum Genet; 2004 Dec 22; 12(12):1015-23. PubMed ID: 15470363
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