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Journal Abstract Search

172 related items for PubMed ID: 14557558

  • 1.
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  • 2. 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; 81(5):884-94. PubMed ID: 17924332
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  • 3. A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere.
    Thomas NS, Wiseman K, Spurlock G, MacDonald M, Ustek D, Upadhyaya M.
    J Med Genet; 2007 Mar; 44(3):215-8. PubMed ID: 16987949
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  • 4. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.
    Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M.
    Neurology; 2003 Jul 22; 61(2):178-83. PubMed ID: 12874395
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  • 5. 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 22; 75(6):1124-30. PubMed ID: 15467981
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  • 6. 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 22; 49(3):171-8. PubMed ID: 22217918
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  • 7. [Characteristics of gene structure in facioscapulohumeral muscular dystrophy-related 4q35 subtelomere and genotype-phenotype correlation in Chinese Han population].
    Wang ZQ, Wu ZY, Wang N, Lin MT, Murong SX.
    Zhonghua Yi Xue Za Zhi; 2009 Feb 10; 89(5):304-9. PubMed ID: 19563705
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  • 8. 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 10; 57(2):109-120. PubMed ID: 31506324
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 15(7):471-5. PubMed ID: 15935668
    [Abstract] [Full Text] [Related]

  • 10. Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.
    Wang ZQ, Wang N, van der Maarel S, Murong SX, Wu ZY.
    Eur J Hum Genet; 2011 Jan 10; 19(1):64-9. PubMed ID: 20736973
    [Abstract] [Full Text] [Related]

  • 11. 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
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  • 14. Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.
    Tonini MM, Lemmers RJ, Pavanello RC, Cerqueira AM, Frants RR, van der Maarel SM, Zatz M.
    Hum Genet; 2006 Mar 04; 119(1-2):23-8. PubMed ID: 16341710
    [Abstract] [Full Text] [Related]

  • 15. Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
    Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.
    Hum Mol Genet; 2018 Oct 15; 27(20):3488-3497. PubMed ID: 30281091
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 58(4):569-76. PubMed ID: 16178028
    [Abstract] [Full Text] [Related]

  • 17. Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.
    Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM.
    Am J Hum Genet; 2004 Jul 15; 75(1):44-53. PubMed ID: 15154112
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  • 18. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q.
    Jiang G, Yang F, van Overveld PG, Vedanarayanan V, van der Maarel S, Ehrlich M.
    Hum Mol Genet; 2003 Nov 15; 12(22):2909-21. PubMed ID: 14506132
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  • 19. Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.
    Masny PS, Chan OY, de Greef JC, Bengtsson U, Ehrlich M, Tawil R, Lock LF, Hewitt JE, Stocksdale J, Martin JH, van der Maarel SM, Winokur ST.
    Eur J Hum Genet; 2010 Apr 15; 18(4):448-56. PubMed ID: 19888305
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  • 20. Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.
    Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM.
    Hum Genet; 2005 Mar 15; 116(4):262-6. PubMed ID: 15645183
    [Abstract] [Full Text] [Related]

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