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 *

129 related articles for article (PubMed ID: 23297012)

  • 1. PCR-RFLP, sequencing, and quantification in molecular diagnosis of spinal muscular atrophy: limits and advantages.
    Hamzi K; Bellayou H; Itri M; Nadifi S
    J Mol Neurosci; 2013 Jun; 50(2):270-4. PubMed ID: 23297012
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.
    Prior TW; Nagan N
    Curr Protoc Hum Genet; 2016 Jan; 88():9.27.1-9.27.13. PubMed ID: 26724723
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA.
    Ar Rochmah M; Harahap NIF; Niba ETE; Nakanishi K; Awano H; Morioka I; Iijima K; Saito T; Saito K; Lai PS; Takeshima Y; Takeuchi A; Bouike Y; Okamoto M; Nishio H; Shinohara M
    Brain Dev; 2017 Oct; 39(9):774-782. PubMed ID: 28522225
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.
    Niba ETE; Rochmah MA; Harahap NIF; Awano H; Morioka I; Iijima K; Takeshima Y; Saito T; Saito K; Takeuchi A; Lai PS; Bouike Y; Matsuo M; Nishio H; Shinohara M
    Kobe J Med Sci; 2019 Jul; 65(2):E49-E53. PubMed ID: 31956256
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.
    Niba ETE; Rochmah MA; Harahap NIF; Awano H; Morioka I; Iijima K; Takeshima Y; Saito T; Saito K; Takeuchi A; Lai PS; Bouike Y; Matsuo M; Nishio H; Shinohara M
    Kobe J Med Sci; 2019 Jul; 65(2):E44-E48. PubMed ID: 31956255
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients.
    Qu YJ; Song F; Yang YL; Jin YW; Bai JL
    Chin Med J (Engl); 2011 Feb; 124(3):385-9. PubMed ID: 21362338
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR.
    Takeuchi A; Tode C; Nishino M; Wijaya YOS; Niba ETE; Awano H; Takeshima Y; Saito T; Saito K; Lai PS; Bouike Y; Nishio H; Shinohara M
    Kobe J Med Sci; 2019 Nov; 65(3):E95-E99. PubMed ID: 32029694
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy.
    Xu R; Ogino S; Lip V; Fang H; Wu BL
    Genet Test; 2003; 7(4):277-81. PubMed ID: 15000803
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
    Ogino S; Wilson RB
    Hum Genet; 2002 Dec; 111(6):477-500. PubMed ID: 12436240
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
    Feldkötter M; Schwarzer V; Wirth R; Wienker TF; Wirth B
    Am J Hum Genet; 2002 Feb; 70(2):358-68. PubMed ID: 11791208
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and intragenic mutations.
    Morikawa S; Harahap IS; Kaszynski RH; Yamamoto T; Pramudya DK; Pham HT; Hartomo TB; Lee MJ; Morioka I; Nishimura N; Yokoyama N; Ueno Y; Matsuo M; Nishio H
    Genet Test Mol Biomarkers; 2011 Oct; 15(10):677-84. PubMed ID: 21631299
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
    QU YJ; DU J; LI EZ; YANG YL; ZOU LP; BAI JL; WANG H; JIN YW; SONG F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr; 28(2):121-6. PubMed ID: 21462119
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Molecular prenatal diagnosis of autosomal recessive spinal muscular atrophies using quantification polymerase chain reaction.
    Jiang W; Ji X; Xu Y; Qu X; Sun W; Yang Z; Tao J; Chen Y
    Genet Test Mol Biomarkers; 2013 May; 17(5):438-42. PubMed ID: 23448387
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper.
    Harahap NI; Harahap IS; Kaszynski RH; Nurputra DK; Hartomo TB; Pham HT; Yamamoto T; Morikawa S; Nishimura N; Rusdi I; Widiastuti R; Nishio H
    Genet Test Mol Biomarkers; 2012 Feb; 16(2):123-9. PubMed ID: 21942573
    [TBL] [Abstract][Full Text] [Related]  

  • 20. False Negative Carrier Screening in Spinal Muscular Atrophy.
    Butcher S; Smith M; Woodcock IR; Delatycki M; Ryan MM; Forbes R
    J Child Neurol; 2020 Mar; 35(4):274-277. PubMed ID: 31858866
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.