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Journal Abstract Search

454 related items for PubMed ID: 16179224

  • 1. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
    Schoumans J, Staaf J, Jönsson G, Rantala J, Zimmer KS, Borg A, Nordenskjöld M, Anderlid BM.
    Eur J Med Genet; 2005; 48(3):290-300. PubMed ID: 16179224
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  • 2. Smith-Magenis syndrome.
    Elsea SH, Girirajan S.
    Eur J Hum Genet; 2008 Apr; 16(4):412-21. PubMed ID: 18231123
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  • 3. Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.
    Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH.
    Eur J Hum Genet; 2001 Dec; 9(12):892-902. PubMed ID: 11840190
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  • 4. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
    Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S.
    Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
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  • 5. Mutations in RAI1 associated with Smith-Magenis syndrome.
    Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH.
    Nat Genet; 2003 Apr; 33(4):466-8. PubMed ID: 12652298
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  • 6. Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
    Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR.
    Hum Mol Genet; 2004 Nov 01; 13(21):2613-24. PubMed ID: 15459175
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  • 7. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
    Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R.
    Eur J Hum Genet; 2006 Dec 01; 14(12):1274-9. PubMed ID: 16896345
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  • 8. A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.
    Tug E, Cine N, Aydin H.
    Genet Couns; 2011 Dec 01; 22(1):11-9. PubMed ID: 21614983
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  • 9. Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.
    Vlangos CN, Wilson M, Blancato J, Smith AC, Elsea SH.
    Am J Med Genet A; 2005 Jan 30; 132A(3):278-82. PubMed ID: 15690371
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  • 10. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
    Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR.
    Nat Genet; 2000 Jan 30; 24(1):84-7. PubMed ID: 10615134
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  • 12. The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2.
    Kimura T, Arakawa Y, Inoue S, Fukushima Y, Kondo I, Koyama K, Hosoi T, Orimo A, Muramatsu M, Nakamura Y, Abe T, Inazawa J.
    Am J Med Genet; 1997 Mar 31; 69(3):320-4. PubMed ID: 9096764
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  • 15. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
    Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR.
    Eur J Med Genet; 2005 Mar 31; 48(3):276-89. PubMed ID: 16179223
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  • 18. Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes.
    Seranski P, Heiss NS, Dhorne-Pollet S, Radelof U, Korn B, Hennig S, Backes E, Schmidt S, Wiemann S, Schwarz CE, Lehrach H, Poustka A.
    Genomics; 1999 Feb 15; 56(1):1-11. PubMed ID: 10036180
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  • 20. Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.
    Bi W, Yan J, Shi X, Yuva-Paylor LA, Antalffy BA, Goldman A, Yoo JW, Noebels JL, Armstrong DL, Paylor R, Lupski JR.
    Hum Mol Genet; 2007 Aug 01; 16(15):1802-13. PubMed ID: 17517686
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