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Journal Abstract Search

321 related items for PubMed ID: 7611294

  • 1. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
    Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, Chakravarti A, Ledbetter DH.
    Am J Hum Genet; 1995 Jul; 57(1):40-8. PubMed ID: 7611294
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  • 6. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
    Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH.
    Genomics; 1993 Dec; 18(3):546-52. PubMed ID: 8307564
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  • 7. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.
    Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL.
    BMC Genomics; 2008 Jan 28; 9():50. PubMed ID: 18226259
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  • 8. Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).
    Erdel M, Schuffenhauer S, Buchholz B, Barth-Witte U, Köchl S, Utermann B, Duba HC, Utermann G.
    Hum Genet; 1996 Jun 28; 97(6):784-93. PubMed ID: 8641697
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  • 9. Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.
    Greger V, Woolf E, Lalande M.
    Hum Mol Genet; 1993 Jul 28; 2(7):921-4. PubMed ID: 8364575
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  • 10. FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions.
    Knoll JH, Sinnett D, Wagstaff J, Glatt K, Wilcox AS, Whiting PM, Wingrove P, Sikela JM, Lalande M.
    Hum Mol Genet; 1993 Feb 28; 2(2):183-9. PubMed ID: 8388764
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  • 11. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes.
    Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH.
    Hum Genet; 1997 Jan 28; 99(1):11-7. PubMed ID: 9003485
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  • 12. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
    Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD.
    Am J Hum Genet; 1999 Aug 28; 65(2):370-86. PubMed ID: 10417280
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  • 13. The mechanisms involved in formation of deletions and duplications of 15q11-q13.
    Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Peñaherrera M, Michaelis RC, Abeliovich D, Schinzel AA.
    J Med Genet; 1998 Feb 28; 35(2):130-6. PubMed ID: 9580159
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  • 14. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
    Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B.
    Am J Hum Genet; 1998 Jul 28; 63(1):170-80. PubMed ID: 9634532
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  • 15. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.
    Wevrick R, Kerns JA, Francke U.
    Hum Mol Genet; 1994 Oct 28; 3(10):1877-82. PubMed ID: 7849716
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  • 16. Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination.
    Robinson WP, Spiegel R, Schinzel AA.
    Hum Genet; 1993 Mar 28; 91(2):181-4. PubMed ID: 8462978
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  • 17. Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes.
    Stefan M, Claiborn KC, Stasiek E, Chai JH, Ohta T, Longnecker R, Greally JM, Nicholls RD.
    BMC Genomics; 2005 Nov 09; 6():157. PubMed ID: 16280085
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  • 20. Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13.
    Woodage T, Lindeman R, Deng ZM, Fimmel A, Smith A, Trent RJ.
    Genomics; 1994 Jan 01; 19(1):170-2. PubMed ID: 8188222
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