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Journal Abstract Search

184 related items for PubMed ID: 31010831

  • 1. Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
    Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F.
    J Med Genet; 2019 Sep; 56(9):590-601. PubMed ID: 31010831
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  • 3. The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.
    Rossi M, Ricci E, Colantoni L, Galluzzi G, Frusciante R, Tonali PA, Felicetti L.
    BMC Med Genet; 2007 Mar 02; 8():8. PubMed ID: 17335567
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  • 4. 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 02; 81(5):884-94. PubMed ID: 17924332
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  • 7. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
    Gaillard MC, Puppo F, Roche S, Dion C, Campana ES, Mariot V, Chaix C, Vovan C, Mazaleyrat K, Tasmadjian A, Bernard R, Dumonceaux J, Attarian S, Lévy N, Nguyen K, Magdinier F, Bartoli M.
    BMC Med Genet; 2016 Sep 15; 17(1):66. PubMed ID: 27634379
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  • 8. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
    Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R.
    Brain; 2013 Nov 15; 136(Pt 11):3408-17. PubMed ID: 24030947
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  • 9. Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.
    Lemmers RJ, van der Vliet PJ, van der Gaag KJ, Zuniga S, Frants RR, de Knijff P, van der Maarel SM.
    Am J Hum Genet; 2010 Mar 12; 86(3):364-77. PubMed ID: 20206332
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  • 11. Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea.
    Lee JH, Park HJ, Seong MW, Park SS, Choi YC.
    Yonsei Med J; 2021 Jan 12; 62(1):95-98. PubMed ID: 33381940
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  • 12. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
    Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S.
    Hum Mol Genet; 2013 Oct 15; 22(20):4206-14. PubMed ID: 23777630
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  • 13. Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.
    Vasale J, Boyar F, Jocson M, Sulcova V, Chan P, Liaquat K, Hoffman C, Meservey M, Chang I, Tsao D, Hensley K, Liu Y, Owen R, Braastad C, Sun W, Walrafen P, Komatsu J, Wang JC, Bensimon A, Anguiano A, Jaremko M, Wang Z, Batish S, Strom C, Higgins J.
    Neuromuscul Disord; 2015 Dec 15; 25(12):945-51. PubMed ID: 26420234
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  • 18. Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype.
    Ma Y, Schwager Karpukhina A, Dib C, Gautier C, Hermine O, Allemand E, Vassetzky YS.
    Sci Adv; 2024 May 03; 10(18):eadl1922. PubMed ID: 38691604
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