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Journal Abstract Search

351 related items for PubMed ID: 19728363

  • 1. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
    de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM.
    Hum Mutat; 2009 Oct; 30(10):1449-59. PubMed ID: 19728363
    [Abstract] [Full Text] [Related]

  • 2. Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.
    Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K.
    Hum Mutat; 2014 Aug; 35(8):998-1010. PubMed ID: 24838473
    [Abstract] [Full Text] [Related]

  • 3. Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.
    Jones TI, Yan C, Sapp PC, McKenna-Yasek D, Kang PB, Quinn C, Salameh JS, King OD, Jones PL.
    Clin Epigenetics; 2014 Aug; 6(1):23. PubMed ID: 25400706
    [Abstract] [Full Text] [Related]

  • 4. Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
    Hiramuki Y, Kure Y, Saito Y, Ogawa M, Ishikawa K, Mori-Yoshimura M, Oya Y, Takahashi Y, Kim DS, Arai N, Mori C, Matsumura T, Hamano T, Nakamura K, Ikezoe K, Hayashi S, Goto Y, Noguchi S, Nishino I.
    J Transl Med; 2022 Nov 08; 20(1):517. PubMed ID: 36348371
    [Abstract] [Full Text] [Related]

  • 5. [Facioscapulohumeral muscular dystrophy type 2].
    Sacconi S, Desnuelle C.
    Rev Neurol (Paris); 2013 Nov 08; 169(8-9):564-72. PubMed ID: 23969240
    [Abstract] [Full Text] [Related]

  • 6. 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 08; 81(5):884-94. PubMed ID: 17924332
    [Abstract] [Full Text] [Related]

  • 7. Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
    de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM.
    Neurology; 2007 Sep 04; 69(10):1018-26. PubMed ID: 17785671
    [Abstract] [Full Text] [Related]

  • 8. Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea.
    Lee JH, Park HJ, Seong MW, Park SS, Choi YC.
    Yonsei Med J; 2021 Jan 04; 62(1):95-98. PubMed ID: 33381940
    [Abstract] [Full Text] [Related]

  • 9. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
    Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K.
    PLoS Genet; 2009 Jul 04; 5(7):e1000559. PubMed ID: 19593370
    [Abstract] [Full Text] [Related]

  • 10. Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.
    Calandra P, Cascino I, Lemmers RJ, Galluzzi G, Teveroni E, Monforte M, Tasca G, Ricci E, Moretti F, van der Maarel SM, Deidda G.
    J Med Genet; 2016 May 04; 53(5):348-55. PubMed ID: 26831754
    [Abstract] [Full Text] [Related]

  • 11. Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
    Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM.
    J Med Genet; 2018 Jul 04; 55(7):469-478. PubMed ID: 29563141
    [Abstract] [Full Text] [Related]

  • 12. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
    van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM.
    Nat Genet; 2003 Dec 04; 35(4):315-7. PubMed ID: 14634647
    [Abstract] [Full Text] [Related]

  • 13. Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.
    Leidenroth A, Sorte HS, Gilfillan G, Ehrlich M, Lyle R, Hewitt JE.
    Eur J Hum Genet; 2012 Sep 04; 20(9):999-1003. PubMed ID: 22378277
    [Abstract] [Full Text] [Related]

  • 14. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
    Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.
    Hum Mol Genet; 2015 Feb 01; 24(3):659-69. PubMed ID: 25256356
    [Abstract] [Full Text] [Related]

  • 15. Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing.
    Butterfield RJ, Dunn DM, Duval B, Moldt S, Weiss RB.
    Genome Res; 2023 Sep 01; 33(9):1439-1454. PubMed ID: 37798116
    [Abstract] [Full Text] [Related]

  • 16. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
    Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.
    Nat Genet; 2012 Dec 01; 44(12):1370-4. PubMed ID: 23143600
    [Abstract] [Full Text] [Related]

  • 17. Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
    Erdmann H, Scharf F, Gehling S, Benet-Pagès A, Jakubiczka S, Becker K, Seipelt M, Kleefeld F, Knop KC, Prott EC, Hiebeler M, Montagnese F, Gläser D, Vorgerd M, Hagenacker T, Walter MC, Reilich P, Neuhann T, Zenker M, Holinski-Feder E, Schoser B, Abicht A.
    Brain; 2023 Apr 19; 146(4):1388-1402. PubMed ID: 36100962
    [Abstract] [Full Text] [Related]

  • 18. Clinical features of facioscapulohumeral muscular dystrophy 2.
    de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R.
    Neurology; 2010 Oct 26; 75(17):1548-54. PubMed ID: 20975055
    [Abstract] [Full Text] [Related]

  • 19. Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.
    Jones TI, King OD, Himeda CL, Homma S, Chen JC, Beermann ML, Yan C, Emerson CP, Miller JB, Wagner KR, Jones PL.
    Clin Epigenetics; 2015 Oct 26; 7(1):37. PubMed ID: 25904990
    [Abstract] [Full Text] [Related]

  • 20. Facioscapulohumeral muscular dystrophy.
    Sacconi S, Salviati L, Desnuelle C.
    Biochim Biophys Acta; 2015 Apr 26; 1852(4):607-14. PubMed ID: 24882751
    [Abstract] [Full Text] [Related]

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