BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (PubMed ID: 38468256)

  • 1. 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]  

  • 2. [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]  

  • 3. 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]  

  • 4. Carrier Screening and Diagnosis for Spinal Muscular Atrophy Using Droplet Digital PCR Versus MLPA: Analytical Validation and Early Test Outcome.
    Shekhawat DS; Didel S; Dixit SG; Singh P; Singh K
    Genet Test Mol Biomarkers; 2024 May; 28(5):207-212. PubMed ID: 38533877
    [No Abstract]   [Full Text] [Related]  

  • 5. [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]  

  • 6. 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]  

  • 7. [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]  

  • 8. Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy.
    Park S; Lee H; Shin S; Lee ST; Lee KA; Choi JR
    Clin Chim Acta; 2020 Nov; 510():787-789. PubMed ID: 32956702
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.
    Sun Y; Kong X; Zhao Z; Zhao X
    BMC Med Genet; 2020 Jun; 21(1):133. PubMed ID: 32552676
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing.
    Wang N; Jiao K; He J; Zhu B; Cheng N; Sun J; Chen L; Chen W; Gong L; Qiao K; Xi J; Wu Q; Zhao C; Zhu W
    J Mol Diagn; 2024 May; 26(5):364-373. PubMed ID: 38490302
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.
    Kubo Y; Nishio H; Saito K
    J Hum Genet; 2015 May; 60(5):233-9. PubMed ID: 25716911
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.
    Tan CA; Westbrook MJ; Truty R; Kvitek DJ; Kennemer M; Winder TL; Shieh PB
    Genet Test Mol Biomarkers; 2020 Oct; 24(10):616-624. PubMed ID: 32721234
    [No Abstract]   [Full Text] [Related]  

  • 13. Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing.
    Cao YY; Zhang WH; Qu YJ; Bai JL; Jin YW; Wang H; Song F
    Chin Med J (Engl); 2018 Dec; 131(24):2921-2929. PubMed ID: 30539904
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. [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]  

  • 16. Simultaneous quantification of SMN1 and SMN2 copy numbers by MALDI-TOF mass spectrometry for spinal muscular atrophy genetic testing.
    Jin W; Yang Z; Tang X; Wang X; Huang Y; Hui C; Yao J; Luan J; Tang S; Wu S; Jin S; Ding C
    Clin Chim Acta; 2022 Jul; 532():45-52. PubMed ID: 35643151
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.