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Journal Abstract Search

136 related items for PubMed ID: 11522250

  • 1. Improved characterization of FSHD mutations.
    Zhang Y, Forner J, Fournet S, Jeanpierre M.
    Ann Genet; 2001; 44(2):105-10. PubMed ID: 11522250
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 22; 81(5):884-94. PubMed ID: 17924332
    [Abstract] [Full Text] [Related]

  • 4. 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 22; 57(2):109-120. PubMed ID: 31506324
    [Abstract] [Full Text] [Related]

  • 5. 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 22; 74(3):322-31. PubMed ID: 11708861
    [Abstract] [Full Text] [Related]

  • 6. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.
    Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ.
    Chromosoma; 2007 Apr 22; 116(2):107-16. PubMed ID: 17131163
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.
    Vielhaber S, Jakubiczka S, Schröder JM, Sailer M, Feistner H, Heinze HJ, Wieacker P, Bettecken T.
    Muscle Nerve; 2002 Apr 02; 25(4):540-8. PubMed ID: 11932972
    [Abstract] [Full Text] [Related]

  • 10. Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population.
    Zhang YZ, Sun SC, Wu HC, Fan QS, Song YJ, Yu W, Jeanpierre M, Urtizberea JA.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug 02; 22(4):380-2. PubMed ID: 16086272
    [Abstract] [Full Text] [Related]

  • 11. 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 02; 50(6):816-9. PubMed ID: 11761483
    [Abstract] [Full Text] [Related]

  • 12. 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 02; 44(3):215-8. PubMed ID: 16987949
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. [Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy].
    Pikó H, Molnár MJ, Herczegfalvi A, Mayer P, Karcagi V.
    Orv Hetil; 2011 Sep 25; 152(39):1576-85. PubMed ID: 21920844
    [Abstract] [Full Text] [Related]

  • 15. FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease.
    Tsumagari K, Chen D, Hackman JR, Bossler AD, Ehrlich M.
    J Med Genet; 2010 Nov 25; 47(11):745-51. PubMed ID: 20710047
    [Abstract] [Full Text] [Related]

  • 16. [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
    [Abstract] [Full Text] [Related]

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  • 19. 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
    [Abstract] [Full Text] [Related]

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