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112 related items for PubMed ID: 8366867

  • 1. A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients.
    Capon F, Melchionda S, Gennarelli M, Lo Cicero S, Giacanelli M, Novelli G, Dallapiccola B.
    Mol Cell Probes; 1993 Jun; 7(3):221-6. PubMed ID: 8366867
    [Abstract] [Full Text] [Related]

  • 2. A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis.
    van der Steege G, Cobben JM, Osinga J, Scheffer H, van Ommen GJ, Buys CH.
    Hum Genet; 1995 Nov; 96(5):589-91. PubMed ID: 8530008
    [Abstract] [Full Text] [Related]

  • 3. Mutation analysis in spinal muscular atrophy using allele-specific polymerase chain reaction.
    Kesari A, Mukherjee M, Mittal B.
    Indian J Biochem Biophys; 2003 Dec; 40(6):439-41. PubMed ID: 22900372
    [Abstract] [Full Text] [Related]

  • 4. PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies.
    Capon F, Cicero SL, Novelli G, Dallapiccola B.
    PCR Methods Appl; 1993 Dec; 3(3):211-2. PubMed ID: 8118405
    [No Abstract] [Full Text] [Related]

  • 5. 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 Dec; 39(4):447-52. PubMed ID: 9433145
    [Abstract] [Full Text] [Related]

  • 6. First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers.
    Lo Cicero S, Capon F, Melchionda S, Gennarelli M, Novelli G, Dallapiccola B.
    Prenat Diagn; 1994 Jun; 14(6):459-62. PubMed ID: 7937582
    [Abstract] [Full Text] [Related]

  • 7. 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; 56(1):202-9. PubMed ID: 7825579
    [Abstract] [Full Text] [Related]

  • 8. Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13 polymorphisms.
    MacKenzie A, Roy N, Besner A, Mettler G, Jacob P, Korneluk R, Surh L.
    Hum Genet; 1993 Jan; 90(5):501-4. PubMed ID: 8094064
    [Abstract] [Full Text] [Related]

  • 9. A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper.
    Sa'adah N, Harahap NI, Nurputra DK, Rochmah MA, Morikawa S, Nishimura N, Sadewa AH, Astuti I, Haryana SM, Saito T, Saito K, Nishio H.
    Clin Lab; 2015 Jan; 61(5-6):575-80. PubMed ID: 26118191
    [Abstract] [Full Text] [Related]

  • 10. 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 Jan; 3(2):96-101. PubMed ID: 7552147
    [Abstract] [Full Text] [Related]

  • 11. Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy.
    Malcov M, Schwartz T, Mei-Raz N, Yosef DB, Amit A, Lessing JB, Shomrat R, Orr-Urtreger A, Yaron Y.
    Fetal Diagn Ther; 2004 Jan; 19(2):199-206. PubMed ID: 14764971
    [Abstract] [Full Text] [Related]

  • 12. Allele-specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy.
    Ravard-Goulvestre C, Boucly C, Mathieu B, Van Amerongen G, Viollet L, Estournet B, Barois A, de Mazancourt P.
    Clin Chem Lab Med; 1999 Feb; 37(2):133-5. PubMed ID: 10219501
    [Abstract] [Full Text] [Related]

  • 13. Allele-specific amplification for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy.
    Moutou C, Gardes N, Rongières C, Ohl J, Bettahar-Lebugle K, Wittemer C, Gerlinger P, Viville S.
    Prenat Diagn; 2001 Jun; 21(6):498-503. PubMed ID: 11438957
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Preimplantation genetic diagnosis of spinal muscular atrophy.
    Dreesen JC, Bras M, de Die-Smulders C, Dumoulin JC, Cobben JM, Evers JL, Smeets HJ, Geraedts JP.
    Mol Hum Reprod; 1998 Sep 22; 4(9):881-5. PubMed ID: 9783849
    [Abstract] [Full Text] [Related]

  • 16. Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases.
    Wirth B, Rudnik-Schöneborn S, Hahnen E, Röhrig D, Zerres K.
    Prenat Diagn; 1995 May 22; 15(5):407-17. PubMed ID: 7644431
    [Abstract] [Full Text] [Related]

  • 17. 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 22; 92(2):133-8. PubMed ID: 8370578
    [Abstract] [Full Text] [Related]

  • 18. A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.
    Francis MJ, Morrison KE, Campbell L, Grewal PK, Christodoulou Z, Daniels RJ, Monaco AP, Frischauf AM, McPherson J, Wasmuth J.
    Hum Mol Genet; 1993 Aug 22; 2(8):1161-7. PubMed ID: 8401497
    [Abstract] [Full Text] [Related]

  • 19. 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 Aug 22; 3(1):56-60. PubMed ID: 7767657
    [Abstract] [Full Text] [Related]

  • 20. Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.
    Brzustowicz LM, Kleyn PW, Boyce FM, Lien LL, Monaco AP, Penchaszadeh GK, Das K, Wang CH, Munsat TL, Ott J.
    Genomics; 1992 Aug 22; 13(4):991-8. PubMed ID: 1505990
    [Abstract] [Full Text] [Related]

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