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 *

181 related articles for article (PubMed ID: 38390973)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers.
    Pan J; Zhang C; Teng Y; Zeng S; Chen S; Liang D; Li Z; Wu L
    Ann Lab Med; 2021 Jan; 41(1):101-107. PubMed ID: 32829585
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.
    McMillan HJ; Kernohan KD; Yeh E; Amburgey K; Boyd J; Campbell C; Dowling JJ; Gonorazky H; Marcadier J; Tarnopolsky MA; Vajsar J; MacKenzie A; Chakraborty P
    Can J Neurol Sci; 2021 Jul; 48(4):504-511. PubMed ID: 33059774
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.
    Kraszewski JN; Kay DM; Stevens CF; Koval C; Haser B; Ortiz V; Albertorio A; Cohen LL; Jain R; Andrew SP; Young SD; LaMarca NM; De Vivo DC; Caggana M; Chung WK
    Genet Med; 2018 Jun; 20(6):608-613. PubMed ID: 29758563
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience.
    Gagliardi D; Canzio E; Orsini P; Conti P; Sinisi V; Maggiore C; Santarsia MC; Lagioia G; Lupis G; Roppa I; Scianatico G; Mancini D; Corti S; Comi GP; Gentile M; Gagliardi D
    Ann Clin Transl Neurol; 2024 May; 11(5):1090-1096. PubMed ID: 38600653
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study.
    Shinohara M; Niba ETE; Wijaya YOS; Takayama I; Mitsuishi C; Kumasaka S; Kondo Y; Takatera A; Hokuto I; Morioka I; Ogiwara K; Tobita K; Takeuchi A; Nishio H;
    Int J Neonatal Screen; 2019 Dec; 5(4):41. PubMed ID: 33072999
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. 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]  

  • 36. Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay.
    Adams SP; Gravett E; Kent N; Kricke S; Ifederu A; Scoto M; Samsuddin S; Muntoni F
    Int J Neonatal Screen; 2021 Oct; 7(4):. PubMed ID: 34842601
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing.
    Shum BOV; Henner I; Cairns A; Pretorius C; Wilgen U; Barahona P; Ungerer JPJ; Bennett G
    Front Genet; 2023; 14():1095600. PubMed ID: 36713073
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Analysis and carrier screening for copy numbers of SMN and NAIP genes in children with spinal muscular atrophy].
    Zeng G; Zheng H; Cheng J; Chen R; Lin H; Yang J; Zhang D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):152-5. PubMed ID: 24711022
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
    Abiusi E; Vaisfeld A; Fiori S; Novelli A; Spartano S; Faggiano MV; Giovanniello T; Angeloni A; Vento G; Santoloci R; Gigli F; D'Amico A; Costa S; Porzi A; Panella M; Ticci C; Daniotti M; Sacchini M; Boschi I; Dani C; Agostiniani R; Bertini E; Lanzone A; Lamarca G; Genuardi M; Pane M; Donati MA; Mercuri E; Tiziano FD;
    J Med Genet; 2023 Jul; 60(7):697-705. PubMed ID: 36414255
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 10.