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Journal Abstract Search

500 related items for PubMed ID: 1363881

  • 1. 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]

  • 2. Application of chromosome 4q35-qter marker (pFR-1) for DNA rearrangement of facioscapulohumeral muscular dystrophy patients in Taiwan.
    Hsu YD, Kao MC, Shyu WC, Lin JC, Huang NE, Sun HF, Yang KD, Tsao WL.
    J Neurol Sci; 1997 Jul; 149(1):73-9. PubMed ID: 9168169
    [Abstract] [Full Text] [Related]

  • 3. No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers.
    Passos-Bueno MR, Wijmenga C, Takata RE, Marie SK, Vainzof M, Pavanello RC, Hewitt JE, Bakker E, Carvalho A, Akiyama J.
    Hum Mol Genet; 1993 May; 2(5):557-62. PubMed ID: 8518794
    [Abstract] [Full Text] [Related]

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

  • 5. Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events.
    Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR.
    Nat Genet; 1993 Jun; 4(2):165-9. PubMed ID: 8102297
    [Abstract] [Full Text] [Related]

  • 6. Detection of the mutation in facioscapulohumeral muscular dystrophy patients.
    Ohya K, Tachi N, Kozuka N, Kon S, Kikuchi K, Chiba S.
    Acta Paediatr Jpn; 1997 Feb; 39(1):92-6. PubMed ID: 9124063
    [Abstract] [Full Text] [Related]

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

  • 8. 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]

  • 9. 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]

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

  • 12. The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.
    Wijmenga C, Winokur ST, Padberg GW, Skraastad MI, Altherr MR, Wasmuth JJ, Murray JC, Hofker MH, Frants RR.
    Hum Genet; 1993 Sep; 92(2):198-203. PubMed ID: 8103757
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. 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]

  • 16. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).
    Cacurri S, Deidda G, Piazzo N, Novelletto A, La Cesa I, Servidei S, Galluzzi G, Wijmenga C, Frants RR, Felicetti L.
    Hum Genet; 1994 Oct 01; 94(4):367-74. PubMed ID: 7927331
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 33(5):366-70. PubMed ID: 8733044
    [Abstract] [Full Text] [Related]

  • 18. Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis.
    Köhler J, Rupilius B, Otto M, Bathke K, Koch MC.
    Hum Genet; 1996 Oct 01; 98(4):485-90. PubMed ID: 8792827
    [Abstract] [Full Text] [Related]

  • 19. 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 Oct 01; 2():S27-31. PubMed ID: 7739622
    [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 Oct 01; 2():S39-44. PubMed ID: 7739624
    [Abstract] [Full Text] [Related]

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