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 *

161 related articles for article (PubMed ID: 37621829)

  • 1. Spinal Muscular Atrophy Type I With False Negative in Newborn Screening: A Case Report.
    Hashimoto K; Yokokawa M; Yamashita D; Yuge K; Otsubo Y
    Cureus; 2023 Jul; 15(7):e42382. PubMed ID: 37621829
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [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]  

  • 4. 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]  

  • 5. Newborn screening for spinal muscular atrophy in Japan: One year of experience.
    Sawada T; Kido J; Sugawara K; Yoshida S; Ozasa S; Nomura K; Okada K; Fujiyama N; Nakamura K
    Mol Genet Metab Rep; 2022 Sep; 32():100908. PubMed ID: 35942129
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan.
    Noguchi Y; Bo R; Nishio H; Matsumoto H; Matsui K; Yano Y; Sugawara M; Ueda G; Wijaya YOS; Niba ETE; Shinohara M; Bouike Y; Takeuchi A; Okamoto K; Saito T; Shimomura H; Lee T; Takeshima Y; Iijima K; Nozu K; Awano H
    Genes (Basel); 2022 Nov; 13(11):. PubMed ID: 36421785
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.
    Sharifi Z; Taheri M; Fallah MS; Abiri M; Golnabi F; Bagherian H; Zeinali R; Farahzadi H; Alborji M; Tehrani PG; Amini M; Asnavandi S; Hashemi M; Forouzesh F; Zeinali S
    J Mol Neurosci; 2021 Nov; 71(11):2281-2298. PubMed ID: 33481221
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening.
    Chien YH; Chiang SC; Weng WC; Lee NC; Lin CJ; Hsieh WS; Lee WT; Jong YJ; Ko TM; Hwu WL
    J Pediatr; 2017 Nov; 190():124-129.e1. PubMed ID: 28711173
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
    Wijaya YOS; Ar Rohmah M; Niba ETE; Morisada N; Noguchi Y; Hidaka Y; Ozasa S; Inoue T; Shimazu T; Takahashi Y; Tozawa T; Chiyonobu T; Inoue T; Shiroshita T; Yokoyama A; Okamoto K; Awano H; Takeshima Y; Saito T; Saito K; Nishio H; Shinohara M
    Brain Dev; 2021 Aug; 43(7):745-758. PubMed ID: 33892995
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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]  

  • 13. Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.
    Niri F; Nicholls J; Baptista Wyatt K; Walker C; Price T; Kelln R; Hume S; Parboosingh J; Lilley M; Kolski H; Ridsdale R; Muranyi A; Mah JK; Bulman DE
    Int J Neonatal Screen; 2023 Jul; 9(3):. PubMed ID: 37606479
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy].
    Song F; Qu YJ; Zou LP; Wang LW; Long MJ; Wang X; Yang YL; Chen Q; Wang H; Jin YW
    Zhonghua Er Ke Za Zhi; 2008 Dec; 46(12):919-23. PubMed ID: 19134255
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Analytical validation of the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis assay to diagnose spinal muscular atrophy.
    Yao M; Jiang L; Yan Y; Yu Y; Chen Y; Wang X; Feng Y; Cui Y; Zhou D; Gao F; Mao S
    Clin Chem Lab Med; 2024 Jun; ():. PubMed ID: 38860968
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Pilot Study on Newborn Screening for Spinal Muscular Atrophy.
    Fonseca H; Ribeiro D; Guimarães F; Pinto C; Marcão A; Sousa C; Carvalho I; Lopes L; Rodrigues D; Rocha H; Vilarinho L
    Endocr Metab Immune Disord Drug Targets; 2023 Sep; ():. PubMed ID: 37711122
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 9.