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Journal Abstract Search

146 related items for PubMed ID: 10515207

  • 1. Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease?
    Stout K, van der Maarel S, Frants RR, Padberg GW, Ropers HH, Haaf T.
    Chromosome Res; 1999; 7(5):323-9. PubMed ID: 10515207
    [Abstract] [Full Text] [Related]

  • 2. 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; 44(3):215-8. PubMed ID: 16987949
    [Abstract] [Full Text] [Related]

  • 3. Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.
    van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM.
    Hum Mol Genet; 2000 Nov 22; 9(19):2879-84. PubMed ID: 11092764
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.
    Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM.
    Am J Hum Genet; 2004 Jul 02; 75(1):44-53. PubMed ID: 15154112
    [Abstract] [Full Text] [Related]

  • 6. 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 02; 74(3):322-31. PubMed ID: 11708861
    [Abstract] [Full Text] [Related]

  • 7. Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event.
    Rudd MK, Endicott RM, Friedman C, Walker M, Young JM, Osoegawa K, NISC Comparative Sequencing Program, de Jong PJ, Green ED, Trask BJ.
    Genome Res; 2009 Jan 02; 19(1):33-41. PubMed ID: 18952852
    [Abstract] [Full Text] [Related]

  • 8. Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
    Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F.
    J Med Genet; 2019 Sep 02; 56(9):590-601. PubMed ID: 31010831
    [Abstract] [Full Text] [Related]

  • 9. Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy.
    Yang F, Shao C, Vedanarayanan V, Ehrlich M.
    Chromosoma; 2004 May 02; 112(7):350-9. PubMed ID: 15138770
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?
    Masny PS, Bengtsson U, Chung SA, Martin JH, van Engelen B, van der Maarel SM, Winokur ST.
    Hum Mol Genet; 2004 Sep 01; 13(17):1857-71. PubMed ID: 15238509
    [Abstract] [Full Text] [Related]

  • 12. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
    Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM.
    J Med Genet; 2004 Nov 01; 41(11):826-36. PubMed ID: 15520407
    [Abstract] [Full Text] [Related]

  • 13. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.
    van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, de Jong PJ, Hewitt JE.
    Genomics; 2002 Feb 01; 79(2):210-7. PubMed ID: 11829491
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  • 15. 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]

  • 16. 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 15; 3(10):1801-5. PubMed ID: 7849703
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  • 18. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.
    Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ.
    Chromosoma; 2007 Apr 15; 116(2):107-16. PubMed ID: 17131163
    [Abstract] [Full Text] [Related]

  • 19. Filling in the Gap of Human Chromosome 4: Single Molecule Real Time Sequencing of Macrosatellite Repeats in the Facioscapulohumeral Muscular Dystrophy Locus.
    Morioka MS, Kitazume M, Osaki K, Wood J, Tanaka Y.
    PLoS One; 2016 Apr 15; 11(3):e0151963. PubMed ID: 27002334
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