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Journal Abstract Search

110 related items for PubMed ID: 7780792

  • 1. [Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies].
    Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboulet S, Benichou B, Zeviani M, Le Paslier D.
    C R Seances Soc Biol Fil; 1994; 188(5-6):495-8. PubMed ID: 7780792
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  • 3. [Molecular genetic diagnosis and deletion analysis in Type I-III spinal muscular atrophy].
    Spiegel R, Hagmann A, Boltshauser E, Moser H.
    Schweiz Med Wochenschr; 1996 May 25; 126(21):907-14. PubMed ID: 8693311
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  • 6. A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.
    Thompson TG, DiDonato CJ, Simard LR, Ingraham SE, Burghes AH, Crawford TO, Rochette C, Mendell JR, Wasmuth JJ.
    Nat Genet; 1995 Jan 25; 9(1):56-62. PubMed ID: 7704025
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  • 7. 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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  • 8. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.
    Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, Davies KE, Leppert M, Ziter F, Wood D.
    Nature; 1990 Apr 05; 344(6266):540-1. PubMed ID: 2320125
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  • 9. Deletions in the SMN and NAIP genes in patients with spinal muscular atrophy in Croatia.
    Sertić J, Barisić N, Sostarko M, Bosnjak N, Culić V, Cvitanović L, Ferencak G, Brzović Z, Stavljenić-Rukavina A.
    Coll Antropol; 1997 Dec 05; 21(2):487-92. PubMed ID: 9439064
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  • 10. Clinical and molecular genetic features of congenital spinal muscular atrophy.
    Devriendt K, Lammens M, Schollen E, Van Hole C, Dom R, Devlieger H, Cassiman JJ, Fryns JP, Matthijs G.
    Ann Neurol; 1996 Nov 05; 40(5):731-8. PubMed ID: 8957014
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  • 11. Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.
    García-Cabezas MA, García-Alix A, Martín Y, Gutiérrez M, Hernández C, Rodríguez JI, Morales C.
    Acta Neuropathol; 2004 May 05; 107(5):475-8. PubMed ID: 14968368
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  • 12. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
    Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J.
    J Med Genet; 1996 Apr 05; 33(4):281-3. PubMed ID: 8730281
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  • 13. Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.
    Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schöneborn S, Simard LR, Zerres K, Burghes AH.
    Hum Mol Genet; 1995 Aug 05; 4(8):1273-84. PubMed ID: 7581364
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  • 15. Spinal muscular atrophy.
    Iannaccone ST.
    Semin Neurol; 1998 Aug 05; 18(1):19-26. PubMed ID: 9562664
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  • 16. Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13.
    Francis MJ, Nesbit MA, Theodosiou AM, Rodrigues NR, Campbell L, Christodoulou Z, Qureshi SJ, Porteous DJ, Brookes AJ, Davies KE.
    Genomics; 1995 May 20; 27(2):366-9. PubMed ID: 7558009
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  • 17. Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.
    Eggermann T, Zerres K, Anhuf D, Kotzot D, Fauth C, Rudnik-Schöneborn S.
    Eur J Hum Genet; 2005 Mar 20; 13(3):309-13. PubMed ID: 15586177
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  • 19. Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.
    Al-Jumah M, Majumdar R, Al-Rajeh S, Awada A, Chaves-Carbello E, Salih M, Al-Shahwan S, Al-Subiey K, Al-Uthaim S.
    Saudi Med J; 2003 Oct 20; 24(10):1052-4. PubMed ID: 14578966
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