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 *

136 related articles for article (PubMed ID: 34449530)

  • 1. Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine
    Kumar B; Barton S; Kordowska J; Eaton RB; Counihan AM; Hale JE; Comeau AM
    Int J Neonatal Screen; 2021 Jul; 7(3):. PubMed ID: 34449530
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy.
    Strunk A; Abbes A; Stuitje AR; Hettinga C; Sepers EM; Snetselaar R; Schouten J; Asselman FL; Cuppen I; Lemmink H; van der Pol WL; Engel H
    Int J Neonatal Screen; 2019 Jun; 5(2):21. PubMed ID: 33072980
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
    Hale JE; Darras BT; Swoboda KJ; Estrella E; Chen JYH; Abbott MA; Hay BN; Kumar B; Counihan AM; Gerstel-Thompson J; Sahai I; Eaton RB; Comeau AM
    Int J Neonatal Screen; 2021 May; 7(2):. PubMed ID: 34071063
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry.
    Lin Y; Lin CH; Yin X; Zhu L; Yang J; Shen Y; Yang C; Chen X; Hu H; Ma Q; Shi X; Shen Y; Hu Z; Huang C; Huang X
    Front Genet; 2019; 10():1255. PubMed ID: 31921298
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
    Müller-Felber W; Vill K; Schwartz O; Gläser D; Nennstiel U; Wirth B; Burggraf S; Röschinger W; Becker M; Durner J; Eggermann K; Müller C; Hannibal I; Olgemöller B; Schara U; Blaschek A; Kölbel H
    J Neuromuscul Dis; 2020; 7(2):109-117. PubMed ID: 32144995
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg.
    Kiselev A; Maretina M; Shtykalova S; Al-Hilal H; Maslyanyuk N; Plokhih M; Serebryakova E; Frolova M; Shved N; Krylova N; Il'ina A; Freund S; Osinovskaya N; Sultanov I; Egorova A; Lobenskaya A; Koroteev A; Sosnina I; Gorelik Y; Bespalova O; Baranov V; Kogan I; Glotov A
    Int J Neonatal Screen; 2024 Jan; 10(1):. PubMed ID: 38390973
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.
    Zarkov M; Stojadinović A; Sekulić S; Barjaktarović I; Perić S; Keković G; Drasković B; Stević Z
    Vojnosanit Pregl; 2015 Oct; 72(10):859-63. PubMed ID: 26665550
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.
    Bowen BM; Truty R; Aradhya S; Bristow SL; Johnson BA; Morales A; Tan CA; Westbrook MJ; Winder TL; Chavez JC
    Front Neurol; 2021; 12():663911. PubMed ID: 34025568
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
    Yamamoto T; Sato H; Lai PS; Nurputra DK; Harahap NI; Morikawa S; Nishimura N; Kurashige T; Ohshita T; Nakajima H; Yamada H; Nishida Y; Toda S; Takanashi J; Takeuchi A; Tohyama Y; Kubo Y; Saito K; Takeshima Y; Matsuo M; Nishio H
    Brain Dev; 2014 Nov; 36(10):914-20. PubMed ID: 24359787
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.
    Glascock J; Sampson J; Haidet-Phillips A; Connolly A; Darras B; Day J; Finkel R; Howell RR; Klinger K; Kuntz N; Prior T; Shieh PB; Crawford TO; Kerr D; Jarecki J
    J Neuromuscul Dis; 2018; 5(2):145-158. PubMed ID: 29614695
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.
    Watihayati MS; Fatemeh H; Marini M; Atif AB; Zahiruddin WM; Sasongko TH; Tang TH; Zabidi-Hussin ZA; Nishio H; Zilfalil BA
    Brain Dev; 2009 Jan; 31(1):42-5. PubMed ID: 18842367
    [TBL] [Abstract][Full Text] [Related]  

  • 20. High-resolution melting (HRM) analysis as a feasible method for detecting spinal muscular atrophy via dried blood spots.
    Er TK; Kan TM; Su YF; Liu TC; Chang JG; Hung SY; Jong YJ
    Clin Chim Acta; 2012 Nov; 413(21-22):1781-5. PubMed ID: 22771969
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.