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Journal Abstract Search

180 related items for PubMed ID: 12913876

  • 1. Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy.
    Moutou C, Gardes N, Viville S.
    Prenat Diagn; 2003 Aug; 23(8):685-9. PubMed ID: 12913876
    [Abstract] [Full Text] [Related]

  • 2. Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene.
    Moutou C, Machev N, Gardes N, Viville S.
    Prenat Diagn; 2006 Nov; 26(11):1037-41. PubMed ID: 16941715
    [Abstract] [Full Text] [Related]

  • 3. Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy.
    Girardet A, Fernandez C, Claustres M.
    Fertil Steril; 2008 Aug; 90(2):443.e7-12. PubMed ID: 17953949
    [Abstract] [Full Text] [Related]

  • 4. Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families.
    Savas S, Eraslan S, Kantarci S, Karaman B, Acarsoz D, Tükel T, Cogulu O, Ozkinay F, Basaran S, Aydinli K, Yuksel-Apak M, Kirdar B.
    Prenat Diagn; 2002 Aug; 22(8):703-9. PubMed ID: 12210580
    [Abstract] [Full Text] [Related]

  • 5. Determination of SMN1 and SMN2 copy number using TaqMan technology.
    Anhuf D, Eggermann T, Rudnik-Schöneborn S, Zerres K.
    Hum Mutat; 2003 Jul; 22(1):74-8. PubMed ID: 12815596
    [Abstract] [Full Text] [Related]

  • 6. Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system.
    Shaw SW, Cheng PJ, Chang SD, Lin YT, Hung CC, Chen CP, Su YN.
    Acta Obstet Gynecol Scand; 2008 Jul; 87(9):960-8. PubMed ID: 18720039
    [Abstract] [Full Text] [Related]

  • 7. Prenatal diagnosis for risk of spinal muscular atrophy.
    Cuscó I, Barceló MJ, Soler C, Parra J, Baiget M, Tizzano E.
    BJOG; 2002 Nov; 109(11):1244-9. PubMed ID: 12452462
    [Abstract] [Full Text] [Related]

  • 8. [Molecular diagnosis of spinal muscular atrophy by multiplex ligation-dependent probe amplification].
    Zeng J, Ke LF, Deng XJ, Cai MY, Tu XD, Lan FH.
    Zhonghua Yi Xue Za Zhi; 2008 Dec 16; 88(46):3262-4. PubMed ID: 19159550
    [Abstract] [Full Text] [Related]

  • 9. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.
    Su YN, Hung CC, Li H, Lee CN, Cheng WF, Tsao PN, Chang MC, Yu CL, Hsieh WS, Lin WL, Hsu SM.
    Hum Mutat; 2005 May 16; 25(5):460-7. PubMed ID: 15832310
    [Abstract] [Full Text] [Related]

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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 16; 107(5):475-8. PubMed ID: 14968368
    [Abstract] [Full Text] [Related]

  • 12. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
    Zapletalová E, Hedvicáková P, Kozák L, Vondrácek P, Gaillyová R, Maríková T, Kalina Z, Jüttnerová V, Fajkus J, Fajkusová L.
    Neuromuscul Disord; 2007 Jun 16; 17(6):476-81. PubMed ID: 17475491
    [Abstract] [Full Text] [Related]

  • 13. Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells.
    Wu T, Ding XS, Li WL, Yao J, Deng XX.
    Chin Med J (Engl); 2005 Aug 05; 118(15):1274-7. PubMed ID: 16117881
    [Abstract] [Full Text] [Related]

  • 14. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy.
    DiMatteo D, Callahan S, Kmiec EB.
    Exp Cell Res; 2008 Feb 15; 314(4):878-86. PubMed ID: 18078930
    [Abstract] [Full Text] [Related]

  • 15. [Gene diagnosis for spinal muscular atrophy and its application study].
    Cao DH, Ren MH, Lin CK, Cui WT, Ma HW, Wu YY, Jin CL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun 15; 26(3):306-9. PubMed ID: 19504445
    [Abstract] [Full Text] [Related]

  • 16. Spinal muscular atrophy diagnostics.
    Prior TW.
    J Child Neurol; 2007 Aug 15; 22(8):952-6. PubMed ID: 17761649
    [Abstract] [Full Text] [Related]

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  • 18. 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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  • 20. Prenatal prediction of spinal muscular atrophy by SMN deletion analysis.
    Dhamcharee V, Mutirangura A, Tannirandom Y, Jongpiputvanich S, Romyanan O.
    Southeast Asian J Trop Med Public Health; 1999 Nov 22; 30 Suppl 2():186-7. PubMed ID: 11400766
    [Abstract] [Full Text] [Related]

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