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Journal Abstract Search

507 related items for PubMed ID: 14634647

  • 1. 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; 35(4):315-7. PubMed ID: 14634647
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
    Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM.
    Nat Genet; 2002 Oct 04; 32(2):235-6. PubMed ID: 12355084
    [Abstract] [Full Text] [Related]

  • 4. Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.
    Buzhov BT, Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Petkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM.
    Neuromuscul Disord; 2005 Jul 04; 15(7):471-5. PubMed ID: 15935668
    [Abstract] [Full Text] [Related]

  • 5. Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.
    van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM.
    Ann Neurol; 2005 Oct 04; 58(4):569-76. PubMed ID: 16178028
    [Abstract] [Full Text] [Related]

  • 6. Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers.
    Butz M, Koch MC, Müller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H.
    J Neurol; 2003 Aug 04; 250(8):932-7. PubMed ID: 12928911
    [Abstract] [Full Text] [Related]

  • 7. No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy.
    van der Kooi EL, de Greef JC, Wohlgemuth M, Frants RR, van Asseldonk RJ, Blom HJ, van Engelen BG, van der Maarel SM, Padberg GW.
    Neuromuscul Disord; 2006 Nov 04; 16(11):766-9. PubMed ID: 17005397
    [Abstract] [Full Text] [Related]

  • 8. 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 04; 30(10):1449-59. PubMed ID: 19728363
    [Abstract] [Full Text] [Related]

  • 9. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.
    Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR.
    Neurology; 2007 Feb 20; 68(8):578-82. PubMed ID: 17229919
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. [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]

  • 12. 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]

  • 13. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.
    Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM.
    Am J Hum Genet; 2004 Dec 01; 75(6):1124-30. PubMed ID: 15467981
    [Abstract] [Full Text] [Related]

  • 14. Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues.
    Tsien F, Sun B, Hopkins NE, Vedanarayanan V, Figlewicz D, Winokur S, Ehrlich M.
    Mol Genet Metab; 2001 Nov 01; 74(3):322-31. PubMed ID: 11708861
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 26; 53(5):348-55. PubMed ID: 26831754
    [Abstract] [Full Text] [Related]

  • 17. 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 May 26; 6(1):23. PubMed ID: 25400706
    [Abstract] [Full Text] [Related]

  • 18. Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
    Goto K, Nishino I, Hayashi YK.
    Neuromuscul Disord; 2006 Apr 26; 16(4):256-61. PubMed ID: 16545566
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.
    Gaillard MC, Roche S, Dion C, Tasmadjian A, Bouget G, Salort-Campana E, Vovan C, Chaix C, Broucqsault N, Morere J, Puppo F, Bartoli M, Levy N, Bernard R, Attarian S, Nguyen K, Magdinier F.
    Neurology; 2014 Aug 19; 83(8):733-42. PubMed ID: 25031281
    [Abstract] [Full Text] [Related]

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