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190 related items for PubMed ID: 9731538

  • 1. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.
    Scharf JM, Endrizzi MG, Wetter A, Huang S, Thompson TG, Zerres K, Dietrich WF, Wirth B, Kunkel LM.
    Nat Genet; 1998 Sep; 20(1):83-6. PubMed ID: 9731538
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.
    Bouhouche A, Benomar A, Birouk N, Bouslam N, Ouazzani R, Yahyaoui M, Chkili T.
    J Neurol; 2003 Oct 22; 250(10):1209-13. PubMed ID: 14586604
    [Abstract] [Full Text] [Related]

  • 5. [Molecular basis of spinal muscular atrophy: th SMN gene].
    Tizzano E, Baiget M.
    Neurologia; 2000 Nov 22; 15(9):393-400. PubMed ID: 11195146
    [Abstract] [Full Text] [Related]

  • 6. 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 22; 24(10):1052-4. PubMed ID: 14578966
    [Abstract] [Full Text] [Related]

  • 7. Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.
    Boda B, Mas C, Giudicelli C, Nepote V, Guimiot F, Levacher B, Zvara A, Santha M, LeGall I, Simonneau M.
    Eur J Hum Genet; 2004 Sep 22; 12(9):729-37. PubMed ID: 15162126
    [Abstract] [Full Text] [Related]

  • 8. SMN oligomerization defect correlates with spinal muscular atrophy severity.
    Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, Le T, Burghes AH, Androphy EJ.
    Nat Genet; 1998 May 22; 19(1):63-6. PubMed ID: 9590291
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
    Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF.
    Hum Mutat; 2003 Aug 22; 22(2):136-43. PubMed ID: 12872254
    [Abstract] [Full Text] [Related]

  • 11. 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 22; 24(5):417-27. PubMed ID: 15459957
    [Abstract] [Full Text] [Related]

  • 12. Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.
    Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE.
    Genomics; 1998 Feb 15; 48(1):121-7. PubMed ID: 9503025
    [Abstract] [Full Text] [Related]

  • 13. NAIP-deletion analysis in Malaysian patients with spinal muscular atrophy.
    Watihayati MS, Zabidi AM, Tang TH, Nishio H, Zilfalil BA.
    Kobe J Med Sci; 2007 Feb 15; 53(4):171-5. PubMed ID: 17932457
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Correlation between severity and SMN protein level in spinal muscular atrophy.
    Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J.
    Nat Genet; 1997 Jul 14; 16(3):265-9. PubMed ID: 9207792
    [Abstract] [Full Text] [Related]

  • 16. Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients.
    Mrad R, Dorboz I, Ben Jemaa L, Maazoul F, Trabelsi M, Chaabouni M, Mlaiki B, Miladi N, Hentati F, Chaabouni H.
    Tunis Med; 2006 Aug 14; 84(8):465-9. PubMed ID: 17175684
    [Abstract] [Full Text] [Related]

  • 17. Deletion analysis of Bulgarian SMA families.
    Jordanova A, Stoyanova V, Uzunova M, Litvinenko I, Kremensky I.
    Hum Mutat; 1998 Aug 14; 12(1):33-8. PubMed ID: 9633817
    [Abstract] [Full Text] [Related]

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