BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

374 related articles for article (PubMed ID: 23926006)

  • 1. [Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing].
    Cao YY; Qu YJ; Song F; Bai JL; Jin YW; Wang H; Li Y; Zhang WH
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Aug; 30(4):410-4. PubMed ID: 23926006
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy].
    He SX; Ge XS; Qu YJ; Jin YW; Wang H; Bai JL; Song F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):606-11. PubMed ID: 22161088
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.
    He J; Zhang QJ; Lin QF; Chen YF; Lin XZ; Lin MT; Murong SX; Wang N; Chen WJ
    Gene; 2013 Apr; 518(2):325-9. PubMed ID: 23352792
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy].
    Zeng J; Lin YH; Yan AZ; Cai MY; Ke LF; Lan FH
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Apr; 26(2):139-43. PubMed ID: 19350502
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy].
    Long MJ; Song F; Qu YJ; Meng Y; Wang H; Jin YW; Huang SZ
    Zhonghua Yi Xue Za Zhi; 2008 May; 88(18):1259-63. PubMed ID: 18844099
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Sanger sequencing for the diagnosis of spinal muscular atrophy patients with survival motor neuron gene 1 compound heterozygous mutation].
    Yang L; Cao YY; Qu YJ; Bai JL; Wang H; Jin YW; Han YL; Song F
    Zhonghua Yi Xue Za Zhi; 2017 Feb; 97(6):418-423. PubMed ID: 28219127
    [No Abstract]   [Full Text] [Related]  

  • 7. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
    Yamamoto T; Sato H; Lai PS; Nurputra DK; Harahap NI; Morikawa S; Nishimura N; Kurashige T; Ohshita T; Nakajima H; Yamada H; Nishida Y; Toda S; Takanashi J; Takeuchi A; Tohyama Y; Kubo Y; Saito K; Takeshima Y; Matsuo M; Nishio H
    Brain Dev; 2014 Nov; 36(10):914-20. PubMed ID: 24359787
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
    DU J; Qu YJ; Xiong H; Li EZ; Jin YW; Bai JL; Wang H; Song F
    Zhonghua Er Ke Za Zhi; 2011 Jun; 49(6):411-5. PubMed ID: 21924051
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Quick MLPA test for quantification of SMN1 and SMN2 copy numbers.
    Passon N; Dubsky de Wittenau G; Jurman I; Radovic S; Bregant E; Molinis C; Damante G; Lonigro IR
    Mol Cell Probes; 2010 Oct; 24(5):310-4. PubMed ID: 20659551
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion.
    Baris I; Etlik O; Koksal V; Arican-Baris ST
    Mol Cell Probes; 2010 Jun; 24(3):138-41. PubMed ID: 20025960
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.
    Liu WL; Li F; He ZX; Ai R; Ma HW
    Genet Mol Res; 2013 Sep; 12(3):3598-604. PubMed ID: 24085424
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 25(5):460-7. PubMed ID: 15832310
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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; 88(46):3262-4. PubMed ID: 19159550
    [TBL] [Abstract][Full Text] [Related]  

  • 14. SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test.
    Kato N; Sa'Adah N; Ar Rochmah M; Harahap NI; Nurputra DK; Sato H; Sadewa AH; Astuti I; Haryana SM; Saito T; Saito K; Nishimura N; Nishio H; Takeuchi A
    Kobe J Med Sci; 2015 Jan; 60(4):E78-85. PubMed ID: 25791416
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.
    Watihayati MS; Fatemeh H; Marini M; Atif AB; Zahiruddin WM; Sasongko TH; Tang TH; Zabidi-Hussin ZA; Nishio H; Zilfalil BA
    Brain Dev; 2009 Jan; 31(1):42-5. PubMed ID: 18842367
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 110(3):257-63. PubMed ID: 11935338
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Quantitative analysis of the genes determining spinal muscular atrophy].
    Nagymihály M; Herczegfalvi A; Tímár L; Karcagi V
    Ideggyogy Sz; 2009 Nov; 62(11-12):390-7. PubMed ID: 20025129
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 17(6):476-81. PubMed ID: 17475491
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy.
    Wang CC; Jong YJ; Chang JG; Chen YL; Wu SM
    Anal Bioanal Chem; 2010 Jul; 397(6):2375-83. PubMed ID: 20563565
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA.
    Harahap NI; Takeuchi A; Yusoff S; Tominaga K; Okinaga T; Kitai Y; Takarada T; Kubo Y; Saito K; Sa'adah N; Nurputra DK; Nishimura N; Saito T; Nishio H
    Brain Dev; 2015 Aug; 37(7):669-76. PubMed ID: 25459970
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.