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145 related items for PubMed ID: 9433145

  • 1. Allele distribution of D5S125, MAP1B5' and D5S679 microsatellite markers in Turkish spinal muscular atrophy families.
    Erdem H, Pehlivan S, Topaloğlu H, Togan I, Ozgüç M.
    Turk J Pediatr; 1997; 39(4):447-52. PubMed ID: 9433145
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.
    Wirth B, Pick E, Leutner A, Dadze A, Voosen B, Knapp M, Piechaczek-Wappenschmidt B, Rudnik-Schöneborn S, Schönling J, Cox S.
    Genomics; 1994 Mar 01; 20(1):84-93. PubMed ID: 7912691
    [Abstract] [Full Text] [Related]

  • 5. Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.
    Daniels RJ, Campbell L, Rodrigues NR, Francis MJ, Morrison KE, McLean M, MacKenzie A, Ignatius J, Dubowitz V, Davies KE.
    J Med Genet; 1995 Feb 01; 32(2):93-6. PubMed ID: 7760328
    [Abstract] [Full Text] [Related]

  • 6. Isolation of microsatellites from the spinal muscular atrophy (SMA) candidate region on chromosome 5q and linkage analysis in Spanish SMA families.
    Velasco E, Valero C, García E, de la Puente A, Cruces J, San Millán JL, del Castillo I, Coloma A, Moreno F, Hernández-Chico C.
    Eur J Hum Genet; 1995 Feb 01; 3(2):96-101. PubMed ID: 7552147
    [Abstract] [Full Text] [Related]

  • 7. Microsatellite polymorphisms for chromosome 5 bands q11.2-q13.3.
    Sherrington R, Mankoo B, Dixon M, Curtis D, Kalsi G, Melmer G, Gurling H.
    Hum Hered; 1993 Feb 01; 43(3):197-202. PubMed ID: 8330884
    [Abstract] [Full Text] [Related]

  • 8. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.
    Gilliam TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, Byth BC, Knowles J, Hislop JE, Shapira Y.
    Nature; 1990 Jun 28; 345(6278):823-5. PubMed ID: 1972783
    [Abstract] [Full Text] [Related]

  • 9. SMA type 2 unrelated to chromosome 5q13.
    Nevo Y, Kramer U, Legum C, Shomrat R, Fatal A, Soffer D, Harel S, Shapira Y.
    Am J Med Genet; 1998 Jan 13; 75(2):193-5. PubMed ID: 9450884
    [Abstract] [Full Text] [Related]

  • 10. Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.
    Soares VM, Brzustowicz LM, Kleyn PW, Knowles JA, Palmer DA, Asokan S, Penchaszadeh GK, Munsat TL, Gilliam TC.
    Genomics; 1993 Feb 13; 15(2):365-71. PubMed ID: 8449502
    [Abstract] [Full Text] [Related]

  • 11. Molecular diagnosis of spinal muscular atrophy in Egyptians.
    Shawky RM, Abd el-Aleem K, Rifaat MM, Moustafa A.
    East Mediterr Health J; 2001 Feb 13; 7(1-2):229-37. PubMed ID: 12596974
    [Abstract] [Full Text] [Related]

  • 12. Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
    Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A.
    Eur J Hum Genet; 2004 Jun 13; 12(6):483-8. PubMed ID: 15054395
    [Abstract] [Full Text] [Related]

  • 13. Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA).
    Morrison KE, Daniels RJ, Suthers GK, Flynn GA, Francis MJ, Grewal PK, Dennis C, Buckle V, Ignatius J, Dubowitz V.
    Hum Genet; 1993 Sep 13; 92(2):133-8. PubMed ID: 8370578
    [Abstract] [Full Text] [Related]

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

  • 15. Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.
    Viollet L, Barois A, Rebeiz JG, Rifai Z, Burlet P, Zarhrate M, Vial E, Dessainte M, Estournet B, Kleinknecht B, Pearn J, Adams RD, Urtizberea JA, Cros DP, Bushby K, Munnich A, Lefebvre S.
    Ann Neurol; 2002 May 20; 51(5):585-92. PubMed ID: 12112104
    [Abstract] [Full Text] [Related]

  • 16. Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.
    Clermont O, Burlet P, Burglen L, Lefebvre S, Pascal F, McPherson J, Wasmuth JJ, Cohen D, Le Paslier D, Weissenbach J.
    Am J Hum Genet; 1994 Apr 20; 54(4):687-94. PubMed ID: 8128967
    [Abstract] [Full Text] [Related]

  • 17. Physical and genetic mapping of novel microsatellite polymorphisms on human chromosome 19.
    Collin GB, Münch A, Mu JL, Naggert JK, Olsen AS, Nishina PM.
    Genomics; 1996 Oct 01; 37(1):125-30. PubMed ID: 8921379
    [Abstract] [Full Text] [Related]

  • 18. Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.
    Wirth B, el-Agwany A, Baasner A, Burghes A, Koch A, Dadze A, Piechaczeck-Wappenschmidt B, Rudnik-Schöneborn S, Zerres K, Schönling J.
    Eur J Hum Genet; 1995 Oct 01; 3(1):56-60. PubMed ID: 7767657
    [Abstract] [Full Text] [Related]

  • 19. Refinement of the spinal muscular atrophy locus by genetic and physical mapping.
    Wang CH, Kleyn PW, Vitale E, Ross BM, Lien L, Xu J, Carter TA, Brzustowicz LM, Obici S, Selig S.
    Am J Hum Genet; 1995 Jan 01; 56(1):202-9. PubMed ID: 7825579
    [Abstract] [Full Text] [Related]

  • 20. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
    Ogino S, Wilson RB.
    Hum Genet; 2002 Dec 01; 111(6):477-500. PubMed ID: 12436240
    [Abstract] [Full Text] [Related]

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