BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 25916779)

  • 1. [Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA].
    Zhang W; Cao Y; Song F; Qu Y; Bai J; Jin Y; Wang H
    Zhonghua Yi Xue Za Zhi; 2015 Feb; 95(6):430-4. PubMed ID: 25916779
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR.
    Yao M; Jiang L; Yu Y; Cui Y; Chen Y; Zhou D; Gao F; Mao S
    BMC Neurol; 2024 Mar; 24(1):93. PubMed ID: 38468256
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Evaluating the performance of four assays for carrier screening of spinal muscular atrophy.
    Tan J; Zhang J; Sun R; Jiang Z; Wang Y; Ma D; Jiao J; Chen H; Lin Y; Zhang Q; Xu Z; Hu P
    Clin Chim Acta; 2023 Aug; 548():117496. PubMed ID: 37479010
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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]  

  • 5. [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]  

  • 6. [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]  

  • 7. [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]  

  • 8. Spinal muscular atrophy carriers with two SMN1 copies.
    Ar Rochmah M; Awano H; Awaya T; Harahap NIF; Morisada N; Bouike Y; Saito T; Kubo Y; Saito K; Lai PS; Morioka I; Iijima K; Nishio H; Shinohara M
    Brain Dev; 2017 Nov; 39(10):851-860. PubMed ID: 28676237
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?
    Vorster E; Essop FB; Rodda JL; Krause A
    Front Genet; 2020; 11():54. PubMed ID: 32117462
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.
    Alías L; Bernal S; Barceló MJ; Also-Rallo E; Martínez-Hernández R; Rodríguez-Alvarez FJ; Hernández-Chico C; Baiget M; Tizzano EF
    Genet Test Mol Biomarkers; 2011 Sep; 15(9):587-94. PubMed ID: 21548796
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.
    Vidal-Folch N; Gavrilov D; Raymond K; Rinaldo P; Tortorelli S; Matern D; Oglesbee D
    Clin Chem; 2018 Dec; 64(12):1753-1761. PubMed ID: 30352867
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. [Supplementary value of denaturing high performance liquid chromatography for routine prenatal diagnosis of spinal muscular atrophy by multiple ligation-dependent probe amplification].
    Tan Y; Wang H; Zhao T; Cheng M; Zhang C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec; 36(12):1175-1178. PubMed ID: 31813141
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.
    Stabley DL; Holbrook J; Scavina M; Crawford TO; Swoboda KJ; Robbins KM; Butchbach MER
    Neurogenetics; 2021 Mar; 22(1):53-64. PubMed ID: 33415588
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Molecular Features of SMA-related Genes in Spinal Muscular Atrophy Patients of Han Nationality in Southwest China.].
    Wang MJ; Wang J; Bai MG; Zhou WJ; Wu LJ; Tang SS; Lu XJ; Ying BW
    Sichuan Da Xue Xue Bao Yi Xue Ban; 2016 Nov; 47(6):936-940. PubMed ID: 28598128
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study.
    Zhang Y; He J; Zhang Y; Li L; Tang X; Wang L; Guo J; Jin C; Tighe S; Zhang Y; Zhu Y; Zhu B
    Medicine (Baltimore); 2020 Jan; 99(3):e18809. PubMed ID: 32011487
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene.
    Niba ETE; Nishio H; Wijaya YOS; Lai PS; Tozawa T; Chiyonobu T; Yamadera M; Okamoto K; Awano H; Takeshima Y; Saito T; Shinohara M
    Brain Dev; 2021 Feb; 43(2):294-302. PubMed ID: 33036822
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. [Association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy].
    Zhang YH; Zhang YQ; Zhu BS; He J; Wang L; Tang XH; Guo JJ; Jin CC; Chen H; Zhang J; Zhang JM; Li L
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 Mar; 21(3):239-243. PubMed ID: 30907347
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.