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402 related items for PubMed ID: 12915474

  • 1. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.
    Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG.
    Hum Mol Genet; 2003 Sep 01; 12(17):2153-65. PubMed ID: 12915474
    [Abstract] [Full Text] [Related]

  • 2. FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.
    Ballif BC, Kashork CD, Shaffer LG.
    Eur J Hum Genet; 2000 Oct 01; 8(10):764-70. PubMed ID: 11039576
    [Abstract] [Full Text] [Related]

  • 3. Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.
    Ballif BC, Wakui K, Gajecka M, Shaffer LG.
    Hum Genet; 2004 Jan 01; 114(2):198-206. PubMed ID: 14579147
    [Abstract] [Full Text] [Related]

  • 4. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
    Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG.
    Hum Mol Genet; 2003 Sep 01; 12(17):2145-52. PubMed ID: 12915473
    [Abstract] [Full Text] [Related]

  • 5. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.
    Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG.
    Am J Hum Genet; 2003 May 01; 72(5):1200-12. PubMed ID: 12687501
    [Abstract] [Full Text] [Related]

  • 6. Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions.
    Ballif BC, Gajecka M, Shaffer LG.
    Chromosome Res; 2004 May 01; 12(2):133-41. PubMed ID: 15053483
    [Abstract] [Full Text] [Related]

  • 7. Monosomy 1p36 deletion syndrome.
    Gajecka M, Mackay KL, Shaffer LG.
    Am J Med Genet C Semin Med Genet; 2007 Nov 15; 145C(4):346-56. PubMed ID: 17918734
    [Abstract] [Full Text] [Related]

  • 8. Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1.
    Gajecka M, Glotzbach CD, Shaffer LG.
    Chromosome Res; 2006 Nov 15; 14(3):277-82. PubMed ID: 16628498
    [Abstract] [Full Text] [Related]

  • 9. Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.
    Gajecka M, Glotzbach CD, Jarmuz M, Ballif BC, Shaffer LG.
    Eur J Hum Genet; 2006 Dec 15; 14(12):1255-62. PubMed ID: 16941016
    [Abstract] [Full Text] [Related]

  • 10. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
    Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA.
    Clin Genet; 2007 Oct 15; 72(4):329-38. PubMed ID: 17850629
    [Abstract] [Full Text] [Related]

  • 11. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
    Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y.
    Brain Dev; 2005 Aug 15; 27(5):378-82. PubMed ID: 16023556
    [Abstract] [Full Text] [Related]

  • 12. Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.
    Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA.
    Am J Med Genet A; 2006 Jun 01; 140(11):1156-63. PubMed ID: 16688748
    [Abstract] [Full Text] [Related]

  • 13. Three chromosomal rearrangements in neuroblastoma cluster within a 300-kb region on 1p36.1.
    Spieker N, Beitsma M, Van Sluis P, Chan A, Caron H, Versteeg R.
    Genes Chromosomes Cancer; 2001 Jun 01; 31(2):172-81. PubMed ID: 11319804
    [Abstract] [Full Text] [Related]

  • 14. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?
    Redon R, Rio M, Gregory SG, Cooper RA, Fiegler H, Sanlaville D, Banerjee R, Scott C, Carr P, Langford C, Cormier-Daire V, Munnich A, Carter NP, Colleaux L.
    J Med Genet; 2005 Feb 01; 42(2):166-71. PubMed ID: 15689456
    [No Abstract] [Full Text] [Related]

  • 15. Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation.
    Kulikowski LD, Yoshimoto M, da Silva Bellucco FT, Belangero SI, Christofolini DM, Pacanaro AN, Bortolai A, Smith Mde A, Squire JA, Melaragno MI.
    Eur J Med Genet; 2010 Feb 01; 53(6):404-7. PubMed ID: 20837174
    [Abstract] [Full Text] [Related]

  • 16. Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.
    Hannes F, Van Houdt J, Quarrell OW, Poot M, Hochstenbach R, Fryns JP, Vermeesch JR.
    Hum Mutat; 2010 Dec 01; 31(12):1343-51. PubMed ID: 20886614
    [Abstract] [Full Text] [Related]

  • 17. Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication.
    Yu S, Graf WD.
    Cytogenet Genome Res; 2010 Dec 01; 129(4):265-74. PubMed ID: 20606397
    [Abstract] [Full Text] [Related]

  • 18. Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends.
    Chuzhanova N, Abeysinghe SS, Krawczak M, Cooper DN.
    Hum Mutat; 2003 Sep 01; 22(3):245-51. PubMed ID: 12938089
    [Abstract] [Full Text] [Related]

  • 19. Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.
    Rooms L, Reyniers E, Kooy RF.
    Hum Mutat; 2007 Feb 01; 28(2):177-82. PubMed ID: 16991117
    [Abstract] [Full Text] [Related]

  • 20. Rearrangements of chromosome band 1p36 in non-Hodgkin's lymphoma.
    Dave BJ, Hess MM, Pickering DL, Zaleski DH, Pfeifer AL, Weisenburger DD, Armitage JO, Sanger WG.
    Clin Cancer Res; 1999 Jun 01; 5(6):1401-9. PubMed ID: 10389925
    [Abstract] [Full Text] [Related]

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