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Journal Abstract Search

173 related items for PubMed ID: 34384893

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  • 2. Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD).
    Dai Y, Li P, Wang Z, Liang F, Yang F, Fang L, Huang Y, Huang S, Zhou J, Wang D, Cui L, Wang K.
    J Med Genet; 2020 Feb; 57(2):109-120. PubMed ID: 31506324
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  • 3. Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.
    Shim Y, Seo J, Lee ST, Choi JR, Choi YC, Shin S, Park HJ.
    Ann Lab Med; 2024 Sep 01; 44(5):437-445. PubMed ID: 38724225
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  • 6. Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
    Efthymiou S, Lemmers RJLF, Vishnu VY, Dominik N, Perrone B, Facchini S, Vegezzi E, Ravaglia S, Wilson L, van der Vliet PJ, Mishra R, Reyaz A, Ahmad T, Bhatia R, Polke JM, Srivastava MP, Cortese A, Houlden H, van der Maarel SM, Hanna MG, Bugiardini E.
    Biomolecules; 2023 Oct 24; 13(11):. PubMed ID: 38002249
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  • 9. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis.
    Lemmers RJL, de Kievit P, van Geel M, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM.
    Ann Neurol; 2001 Dec 24; 50(6):816-9. PubMed ID: 11761483
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  • 10. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
    Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM.
    Am J Hum Genet; 2007 Nov 24; 81(5):884-94. PubMed ID: 17924332
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  • 11. CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.
    Rieken A, Bossler AD, Mathews KD, Moore SA.
    Neurology; 2021 Feb 16; 96(7):e1054-e1062. PubMed ID: 33443126
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  • 12. Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
    Goto K, Nishino I, Hayashi YK.
    Neuromuscul Disord; 2006 Apr 16; 16(4):256-61. PubMed ID: 16545566
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  • 13. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
    Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R.
    Am J Hum Genet; 2012 Apr 06; 90(4):628-35. PubMed ID: 22482803
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  • 14. Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping.
    Guruju NM, Jump V, Lemmers R, Van Der Maarel S, Liu R, Nallamilli BR, Shenoy S, Chaubey A, Koppikar P, Rose R, Khadilkar S, Hegde M.
    Neurol Genet; 2023 Dec 06; 9(6):e200107. PubMed ID: 38021397
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  • 16. A simplified approach for FSHD molecular testing.
    Papanikos F, Skoulatou C, Sakellariou P, Kekou K, Christopoulos TK, Kanavakis E, Traeger-Synodinos J, Ioannou PC.
    Clin Chim Acta; 2014 Feb 15; 429():96-103. PubMed ID: 24321734
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  • 17. Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.
    Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R.
    J Med Genet; 2012 Mar 15; 49(3):171-8. PubMed ID: 22217918
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  • 18. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.
    Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ.
    Chromosoma; 2007 Apr 15; 116(2):107-16. PubMed ID: 17131163
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  • 20. Improved characterization of FSHD mutations.
    Zhang Y, Forner J, Fournet S, Jeanpierre M.
    Ann Genet; 2001 Apr 15; 44(2):105-10. PubMed ID: 11522250
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