These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

195 related articles for article (PubMed ID: 20564270)

  • 61. A duplex allele-specific amplification PCR to detect SMN1 deletion.
    Pieri Pde C; Nogueira Jde A; Marques-Dias MJ; Resende B; Kim CA; Reed UC; Okay TS
    Genet Test Mol Biomarkers; 2009 Apr; 13(2):205-8. PubMed ID: 19378506
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.
    Ganji H; Nouri N; Salehi M; Aryani O; Houshmand M; Basiri K; Fazel-Najafabadi E; Sedghi M
    J Child Neurol; 2015 Apr; 30(5):558-62. PubMed ID: 24563475
    [TBL] [Abstract][Full Text] [Related]  

  • 63. 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; 4(9):881-5. PubMed ID: 9783849
    [TBL] [Abstract][Full Text] [Related]  

  • 64. False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy.
    Kang SH; Cho SI; Chae JH; Chung KN; Ra EK; Kim SY; Seong MW; Kim JY; Park SS
    Genet Test Mol Biomarkers; 2009 Aug; 13(4):511-3. PubMed ID: 19663601
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy.
    Singh NN; Lee BM; DiDonato CJ; Singh RN
    Future Med Chem; 2015; 7(13):1793-808. PubMed ID: 26381381
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.
    Maranda B; Fan L; Soucy JF; Simard L; Mitchell GA
    Clin Biochem; 2012 Jan; 45(1-2):88-91. PubMed ID: 22085534
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.
    Qu YJ; Bai JL; Cao YY; Wang H; Jin YW; Du J; Ge XS; Zhang WH; Li Y; He SX; Song F
    J Mol Diagn; 2016 Sep; 18(5):741-752. PubMed ID: 27425821
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china.
    Zeng J; Lin Y; Yan A; Ke L; Zhu Z; Lan F
    J Mol Diagn; 2011 Jan; 13(1):41-7. PubMed ID: 21227393
    [TBL] [Abstract][Full Text] [Related]  

  • 69. [Analysis of SMN1 gene mutations in 78 patients with spinal muscular atrophy].
    Li J; Zhu Y; Zhan Y; Li Y; Chen M; Wang L; He R; Zhang C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct; 34(5):658-661. PubMed ID: 28981927
    [TBL] [Abstract][Full Text] [Related]  

  • 70. [Limitation of PCR-RFLP method for the detection of genetic mutations in spinal muscular atrophy].
    Jin YW; Qu YJ; Wang H; Bai JL; Song F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Feb; 29(1):34-7. PubMed ID: 22311488
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Molecular inversion probe-rolling circle amplification with single-strand poly-T luminescent copper nanoclusters for fluorescent detection of single-nucleotide variant of SMN gene in diagnosis of spinal muscular atrophy.
    Chen CA; Wang CC; Kou HS; Wu SM
    Anal Chim Acta; 2020 Aug; 1123():56-63. PubMed ID: 32507240
    [TBL] [Abstract][Full Text] [Related]  

  • 72. The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.
    Vijzelaar R; Snetselaar R; Clausen M; Mason AG; Rinsma M; Zegers M; Molleman N; Boschloo R; Yilmaz R; Kuilboer R; Lens S; Sulchan S; Schouten J
    PLoS One; 2019; 14(7):e0220211. PubMed ID: 31339938
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.
    Jedličková I; Přistoupilová A; Nosková L; Majer F; Stránecký V; Hartmannová H; Hodaňová K; Trešlová H; Hýblová M; Solár P; Minárik G; Giertlová M; Kmoch S
    Mol Genet Genomic Med; 2020 Jul; 8(7):e1238. PubMed ID: 32337852
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.
    Sheng-Yuan Z; Xiong F; Chen YJ; Yan TZ; Zeng J; Li L; Zhang YN; Chen WQ; Bao XH; Zhang C; Xu XM
    Eur J Hum Genet; 2010 Sep; 18(9):978-84. PubMed ID: 20442745
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR.
    Xu Y; Xiao B; Liu Y; Qu XX; Dai MY; Ying XM; Jiang WT; Zhang JM; Liu XQ; Chen YW; Ji X
    Neuromuscul Disord; 2020 Mar; 30(3):219-226. PubMed ID: 32169315
    [TBL] [Abstract][Full Text] [Related]  

  • 76. A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.
    Vezain M; Gérard B; Drunat S; Funalot B; Fehrenbach S; N'Guyen-Viet V; Vallat JM; Frébourg T; Tosi M; Martins A; Saugier-Veber P
    Hum Mutat; 2011 Sep; 32(9):989-94. PubMed ID: 21542063
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype.
    Ronchi D; Previtali SC; Sora MG; Barera G; Del Menico B; Corti S; Bresolin N; Comi GP
    J Mol Neurosci; 2015 May; 56(1):212-5. PubMed ID: 25572663
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis.
    Chen WJ; Dong WJ; Lin XZ; Lin MT; Murong SX; Wu ZY; Wang N
    BMC Med Genet; 2009 May; 10():45. PubMed ID: 19480685
    [TBL] [Abstract][Full Text] [Related]  

  • 79. [Clinical application of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy].
    Jiang Y; Peng G; Wu Q; Zhou Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):180-4. PubMed ID: 24711027
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Prenatal diagnosis of spinal muscular atrophy in Macedonian families.
    Kocheva SA; Plaseska-Karanfilska D; Trivodalieva S; Kuturec M; Vlaski-Jekic S; Efremov GD
    Genet Test; 2008 Sep; 12(3):391-3. PubMed ID: 18752447
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.