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 *

172 related articles for article (PubMed ID: 36421785)

  • 21. Newborn screening for spinal muscular atrophy: The Wisconsin first year experience.
    Baker MW; Mochal ST; Dawe SJ; Wiberley-Bradford AE; Cogley MF; Zeitler BR; Piro ZD; Harmelink MM; Kwon JM
    Neuromuscul Disord; 2022 Feb; 32(2):135-141. PubMed ID: 35120759
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis.
    Wijaya YOS; Nishio H; Niba ETE; Shiroshita T; Kato M; Bouike Y; Tode C; Ar Rochmah M; Harahap NIF; Nurputra DK; Okamoto K; Saito T; Takeuchi A; Lai PS; Yamaguchi S; Shinohara M
    Genet Test Mol Biomarkers; 2021 Apr; 25(4):293-301. PubMed ID: 33877896
    [No Abstract]   [Full Text] [Related]  

  • 23. Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.
    Taylor JL; Lee FK; Yazdanpanah GK; Staropoli JF; Liu M; Carulli JP; Sun C; Dobrowolski SF; Hannon WH; Vogt RF
    Clin Chem; 2015 Feb; 61(2):412-9. PubMed ID: 25502182
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Real-Time PCR-Based Screening for Homozygous
    Bouike Y; Sakima M; Taninishi Y; Matsutani T; Noguchi Y; Bo R; Awano H; Nishio H
    Genes (Basel); 2023 Nov; 14(12):. PubMed ID: 38136980
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper.
    Sa'adah N; Harahap NI; Nurputra DK; Rochmah MA; Morikawa S; Nishimura N; Sadewa AH; Astuti I; Haryana SM; Saito T; Saito K; Nishio H
    Clin Lab; 2015; 61(5-6):575-80. PubMed ID: 26118191
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. A new line method; A direct test in spinal muscular atrophy screening for DBS.
    Kubar A; Temel SG; Beken S; Onder G; Hatirnaz O; Korkmaz A; Alanay Y; Ozbek U; Sag SO; Ergoren MC; Kubar E; Sonmezalp CZ; Doğan O
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2270. PubMed ID: 37614112
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. 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]  

  • 33. Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.
    Nishio H; Niba ETE; Saito T; Okamoto K; Takeshima Y; Awano H
    Int J Mol Sci; 2023 Jul; 24(15):. PubMed ID: 37569314
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. 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]  

  • 36. California's experience with SMA newborn screening: A successful path to early intervention.
    Matteson J; Wu CH; Mathur D; Tang H; Sciortino S; Feuchtbaum L; Bishop T; Sharma SC; Neogi P; Fitzgibbon I; Olney RS
    J Neuromuscul Dis; 2022; 9(6):777-785. PubMed ID: 36278357
    [TBL] [Abstract][Full Text] [Related]  

  • 37. High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.
    Czibere L; Burggraf S; Fleige T; Glück B; Keitel LM; Landt O; Durner J; Röschinger W; Hohenfellner K; Wirth B; Müller-Felber W; Vill K; Becker M
    Eur J Hum Genet; 2020 Jan; 28(1):23-30. PubMed ID: 31363188
    [TBL] [Abstract][Full Text] [Related]  

  • 38. New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy.
    Liu Z; Zhang P; He X; Liu S; Tang S; Zhang R; Wang X; Tan J; Peng B; Jiang L; Hong S; Zou L
    BMC Neurol; 2016 Aug; 16(1):141. PubMed ID: 27534852
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 9.