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Journal Abstract Search

171 related items for PubMed ID: 7583041

  • 1. 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; 3(3):155-67. PubMed ID: 7583041
    [Abstract] [Full Text] [Related]

  • 2. Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy.
    Cacurri S, Piazzo N, Deidda G, Vigneti E, Galluzzi G, Colantoni L, Merico B, Ricci E, Felicetti L.
    Am J Hum Genet; 1998 Jul; 63(1):181-90. PubMed ID: 9634507
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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; 2():S39-44. PubMed ID: 7739624
    [Abstract] [Full Text] [Related]

  • 5. 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; (2):S39-44. PubMed ID: 23573585
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. 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]

  • 9. 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]

  • 10. 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 Jul; (2):S19-26. PubMed ID: 23573582
    [Abstract] [Full Text] [Related]

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

  • 12. [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]

  • 13. 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]

  • 14. 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]

  • 15. An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD).
    Busse K, Köhler J, Stegmann K, Pongratz D, Koch MC, Schreiber H.
    Neuromuscul Disord; 2000 Mar; 10(3):178-81. PubMed ID: 10734264
    [Abstract] [Full Text] [Related]

  • 16. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.
    Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, Piazzo N, Servidei S, Vigneti E, Pasceri V, Silvestri G, Mirabella M, Mangiola F, Tonali P, Felicetti L.
    Ann Neurol; 1999 Jun; 45(6):751-7. PubMed ID: 10360767
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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]

  • 19. Definitive molecular diagnosis of facioscapulohumeral dystrophy.
    Orrell RW, Tawil R, Forrester J, Kissel JT, Mendell JR, Figlewicz DA.
    Neurology; 1999 Jun 10; 52(9):1822-6. PubMed ID: 10371529
    [Abstract] [Full Text] [Related]

  • 20. 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 Jun 10; (2):S27-31. PubMed ID: 23573583
    [Abstract] [Full Text] [Related]

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