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 *

201 related articles for article (PubMed ID: 34001052)

  • 21. Spinal muscular atrophy type 1: A fatal case in a 1-year-old girl with delayed diagnosis.
    Rizvi SB; Ahmed H; Zaman A; Ali AMN; Shah HH; Rauf SA; Dave T
    Clin Case Rep; 2024 Feb; 12(2):e8513. PubMed ID: 38344354
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Effects of the COVID-19 Pandemic on SMA Screening and Care: Physician and Community Insights.
    Curry M; Peterson I; Belter L; Sarr F; Whitmire S; Schroth M; Jarecki J
    Neurol Ther; 2023 Oct; 12(5):1631-1647. PubMed ID: 37347432
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.
    Basel-Vanagaite L; Taub E; Drasinover V; Magal N; Brudner A; Zlotogora J; Shohat M
    Genet Test; 2008 Mar; 12(1):53-6. PubMed ID: 18298318
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study.
    Su YN; Hung CC; Lin SY; Chen FY; Chern JP; Tsai C; Chang TS; Yang CC; Li H; Ho HN; Lee CN
    PLoS One; 2011 Feb; 6(2):e17067. PubMed ID: 21364876
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.
    Meyer AP; Connolly AM; Vannatta K; Hacker N; Hatfield A; Decipeda A; Parker P; Willoughby A; Waldrop MA
    J Neuromuscul Dis; 2024; 11(1):129-142. PubMed ID: 38160362
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
    Vill K; Schwartz O; Blaschek A; Gläser D; Nennstiel U; Wirth B; Burggraf S; Röschinger W; Becker M; Czibere L; Durner J; Eggermann K; Olgemöller B; Harms E; Schara U; Kölbel H; Müller-Felber W
    Orphanet J Rare Dis; 2021 Mar; 16(1):153. PubMed ID: 33789695
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.
    Sonehara S; Bo R; Nambu Y; Iketani K; Lee T; Shimomura H; Ueda M; Takeshima Y; Iijima K; Nozu K; Nishio H; Awano H
    Genes (Basel); 2023 Dec; 14(12):. PubMed ID: 38137033
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Expert consensus over genetic counseling for carrier screening of Spinal muscular atrophy].
    Consensus Expert Group On Carrier Screening For Monogenic Disorders ; Genetic Counseling Group Of Medical Genetics Branch Of Chinese Medical Association ; Hu T; Guo J; Liu S; Lu Y; Chang Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun; 41(6):661-668. PubMed ID: 38818549
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Policy versus practice: comparison of prescribing therapy and durable medical equipment in medical and educational settings.
    Sneed RC; May WL; Stencel C
    Pediatrics; 2004 Nov; 114(5):e612-25. PubMed ID: 15520092
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Spinal muscular dystrophy - a revisit of the diagnosis and treatment modalities.
    Srivastava G; Srivastava P
    Int J Neurosci; 2019 Nov; 129(11):1103-1118. PubMed ID: 31271088
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.
    Sugarman EA; Nagan N; Zhu H; Akmaev VR; Zhou Z; Rohlfs EM; Flynn K; Hendrickson BC; Scholl T; Sirko-Osadsa DA; Allitto BA
    Eur J Hum Genet; 2012 Jan; 20(1):27-32. PubMed ID: 21811307
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Spinal muscular atrophy.
    D'Amico A; Mercuri E; Tiziano FD; Bertini E
    Orphanet J Rare Dis; 2011 Nov; 6():71. PubMed ID: 22047105
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Willingness to Pay for a Newborn Screening Test for Spinal Muscular Atrophy.
    Lin PJ; Yeh WS; Neumann PJ
    Pediatr Neurol; 2017 Jan; 66():69-75. PubMed ID: 27769729
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.
    Milligan JN; Blasco-Pérez L; Costa-Roger M; Codina-Solà M; Tizzano EF
    Genes (Basel); 2022 Sep; 13(9):. PubMed ID: 36140824
    [TBL] [Abstract][Full Text] [Related]  

  • 36. One Year of Newborn Screening for SMA - Results of a German Pilot Project.
    Vill K; Kölbel H; Schwartz O; Blaschek A; Olgemöller B; Harms E; Burggraf S; Röschinger W; Durner J; Gläser D; Nennstiel U; Wirth B; Schara U; Jensen B; Becker M; Hohenfellner K; Müller-Felber W
    J Neuromuscul Dis; 2019; 6(4):503-515. PubMed ID: 31594245
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
    Karakaya M; Storbeck M; Strathmann EA; Delle Vedove A; Hölker I; Altmueller J; Naghiyeva L; Schmitz-Steinkrüger L; Vezyroglou K; Motameny S; Alawbathani S; Thiele H; Polat AI; Okur D; Boostani R; Karimiani EG; Wunderlich G; Ardicli D; Topaloglu H; Kirschner J; Schrank B; Maroofian R; Magnusson O; Yis U; Nürnberg P; Heller R; Wirth B
    Hum Mutat; 2018 Sep; 39(9):1284-1298. PubMed ID: 29858556
    [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. Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.
    Lee BH; Deng S; Chiriboga CA; Kay DM; Irumudomon O; Laureta E; Delfiner L; Treidler SO; Anziska Y; Sakonju A; Kois C; Farooq O; Engelstad K; Laurenzano A; Hogan K; Caggana M; Saavedra-Matiz CA; Stevens CF; Ciafaloni E
    Neurology; 2022 Oct; 99(14):e1527-e1537. PubMed ID: 35835557
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Current attitudes toward carrier screening for spinal muscular atrophy among pregnant women in Eastern China.
    Li Y; Wang L; Tan J; Huang M; Wang Y; Shao B; Lv J; Zhang J
    J Genet Couns; 2023 Aug; 32(4):823-832. PubMed ID: 36775845
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.