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Journal Abstract Search

195 related items for PubMed ID: 9668160

  • 1. Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.
    Lemmers RJ, van der Maarel SM, van Deutekom JC, van der Wielen MJ, Deidda G, Dauwerse HG, Hewitt J, Hofker M, Bakker E, Padberg GW, Frants RR.
    Hum Mol Genet; 1998 Aug; 7(8):1207-14. PubMed ID: 9668160
    [Abstract] [Full Text] [Related]

  • 2. Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD).
    Fisher J, Upadhyaya M.
    Neuromuscul Disord; 1997 Jan; 7(1):55-62. PubMed ID: 9132141
    [Abstract] [Full Text] [Related]

  • 3. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1.
    van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, Padberg GW, Frants RR.
    Hum Mol Genet; 1996 Dec; 5(12):1997-2003. PubMed ID: 8968754
    [Abstract] [Full Text] [Related]

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

  • 5. 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]

  • 6. [Facioscapulohumeral muscular dystrophy (FSHD)].
    Funakoshi M, Goto K, Kim BY, Arahata K.
    Nihon Rinsho; 1997 Dec 22; 55(12):3181-5. PubMed ID: 9436432
    [Abstract] [Full Text] [Related]

  • 7. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).
    van der Maarel SM, Deidda G, Lemmers RJ, Bakker E, van der Wielen MJ, Sandkuijl L, Hewitt JE, Padberg GW, Frants RR.
    J Med Genet; 1999 Nov 22; 36(11):823-8. PubMed ID: 10544225
    [Abstract] [Full Text] [Related]

  • 8. The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.
    Winokur ST, Bengtsson U, Feddersen J, Mathews KD, Weiffenbach B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR.
    Chromosome Res; 1994 May 22; 2(3):225-34. PubMed ID: 8069466
    [Abstract] [Full Text] [Related]

  • 9. Molecular genetics of facioscapulohumeral muscular dystrophy.
    Wijmenga C, Frants RR, Hewitt JE, van Deutekom JC, van Geel M, Wright TJ, Padberg GW, Hofker MH, van Ommen GJ.
    Neuromuscul Disord; 1993 May 22; 3(5-6):487-91. PubMed ID: 8186699
    [Abstract] [Full Text] [Related]

  • 10. Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD).
    Lee JH, Goto K, Sahashi KO, Nonaka I, Matsuda C, Arahata K.
    Muscle Nerve Suppl; 1995 May 22; (2):S27-31. PubMed ID: 23573583
    [Abstract] [Full Text] [Related]

  • 11. Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: implications for the origin and evolution of the 3.3 kb repeat family.
    Clark LN, Koehler U, Ward DC, Wienberg J, Hewitt JE.
    Chromosoma; 1996 Sep 22; 105(3):180-9. PubMed ID: 8781186
    [Abstract] [Full Text] [Related]

  • 12. Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter.
    Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L.
    Eur J Hum Genet; 1995 Sep 22; 3(3):155-67. PubMed ID: 7583041
    [Abstract] [Full Text] [Related]

  • 13. High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q.
    Bengtsson U, Altherr MR, Wasmuth JJ, Winokur ST.
    Hum Mol Genet; 1994 Oct 22; 3(10):1801-5. PubMed ID: 7849703
    [Abstract] [Full Text] [Related]

  • 14. [Genetic analysis of facioscapulohumeral muscular dystrophy (FSHD)].
    Goto K, Song MD, Lee JH, Arahata K.
    Rinsho Shinkeigaku; 1995 Dec 22; 35(12):1416-8. PubMed ID: 8752415
    [Abstract] [Full Text] [Related]

  • 15. Characterization of a tandemly repeated 3.3-kb Kpnl unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35.
    Lee JH, Goto K, Matsuda C, Arahata K.
    Muscle Nerve Suppl; 1995 Dec 22; (2):S6-13. PubMed ID: 23573580
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
    Tupler R, Berardinelli A, Barbierato L, Frants R, Hewitt JE, Lanzi G, Maraschio P, Tiepolo L.
    J Med Genet; 1996 May 15; 33(5):366-70. PubMed ID: 8733044
    [Abstract] [Full Text] [Related]

  • 19. Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35.
    van Deutekom JC, Hofker MH, Romberg S, van Geel M, Rommens J, Wright TJ, Hewitt JE, Padberg GW, Wijmenga C, Frants RR.
    Muscle Nerve Suppl; 1995 May 15; (2):S19-26. PubMed ID: 23573582
    [Abstract] [Full Text] [Related]

  • 20. The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter.
    Bakker E, Wijmenga C, Vossen RH, Padberg GW, Hewitt J, van der Wielen M, Rasmussen K, Frants RR.
    Muscle Nerve Suppl; 1995 May 15; (2):S39-44. PubMed ID: 23573585
    [Abstract] [Full Text] [Related]

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