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Journal Abstract Search

388 related items for PubMed ID: 8111371

  • 1. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.
    van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR.
    Hum Mol Genet; 1993 Dec; 2(12):2037-42. PubMed ID: 8111371
    [Abstract] [Full Text] [Related]

  • 2. 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 Dec; (2):S27-31. PubMed ID: 23573583
    [Abstract] [Full Text] [Related]

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

  • 4. 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 Dec; 3(5-6):487-91. PubMed ID: 8186699
    [Abstract] [Full Text] [Related]

  • 5. Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD).
    Lee JH, Goto K, Sahashi K, Nonaka I, Matsuda C, Arahata K.
    Muscle Nerve Suppl; 1995 Dec; 2():S27-31. PubMed ID: 7739622
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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; 2(3):225-34. PubMed ID: 8069466
    [Abstract] [Full Text] [Related]

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

  • 9. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.
    Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R.
    Nat Genet; 1992 Sep; 2(1):26-30. PubMed ID: 1363881
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 Jan; 3(3):155-67. PubMed ID: 7583041
    [Abstract] [Full Text] [Related]

  • 12. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.
    van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR.
    Hum Mol Genet; 1996 May; 5(5):581-90. PubMed ID: 8733123
    [Abstract] [Full Text] [Related]

  • 13. DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations.
    Goto K, Lee JH, Matsuda C, Hirabayashi K, Kojo T, Nakamura A, Mitsunaga Y, Furukawa T, Sahashi K, Arahata K.
    Neuromuscul Disord; 1995 May; 5(3):201-8. PubMed ID: 7633185
    [Abstract] [Full Text] [Related]

  • 14. [Progress in researches on the molecular genetics of facioscapulohumeral muscular dystrophy].
    Su Q, Zhang C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Oct; 18(5):398-401. PubMed ID: 11592052
    [Abstract] [Full Text] [Related]

  • 15. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).
    Deidda G, Cacurri S, Piazzo N, Felicetti L.
    J Med Genet; 1996 May; 33(5):361-5. PubMed ID: 8733043
    [Abstract] [Full Text] [Related]

  • 16. Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.
    Wright TJ, Wijmenga C, Clark LN, Frants RR, Williamson R, Hewitt JE.
    Hum Mol Genet; 1993 Oct; 2(10):1673-8. PubMed ID: 7903581
    [Abstract] [Full Text] [Related]

  • 17. 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; 3(10):1801-5. PubMed ID: 7849703
    [Abstract] [Full Text] [Related]

  • 18. Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions.
    Wijmenga C, van Deutekom JC, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR.
    Genomics; 1994 Jan 01; 19(1):21-6. PubMed ID: 7910579
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35.
    Lee JH, Goto K, Matsuda C, Arahata K.
    Muscle Nerve Suppl; 1995 Jul 22; 2():S6-13. PubMed ID: 7739628
    [Abstract] [Full Text] [Related]

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