BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 10049592)

  • 1. A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
    Probst FJ; Chen KS; Zhao Q; Wang A; Friedman TB; Lupski JR; Camper SA
    Genomics; 1999 Feb; 55(3):348-52. PubMed ID: 10049592
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 13(21):2613-24. PubMed ID: 15459175
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
    Chen KS; Manian P; Koeuth T; Potocki L; Zhao Q; Chinault AC; Lee CC; Lupski JR
    Nat Genet; 1997 Oct; 17(2):154-63. PubMed ID: 9326934
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.
    Juyal RC; Kuwano A; Kondo I; Zara F; Baldini A; Patel PI
    Am J Med Genet; 1996 Dec; 66(2):193-6. PubMed ID: 8958329
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
    Liburd N; Ghosh M; Riazuddin S; Naz S; Khan S; Ahmed Z; Riazuddin S; Liang Y; Menon PS; Smith T; Smith AC; Chen KS; Lupski JR; Wilcox ER; Potocki L; Friedman TB
    Hum Genet; 2001 Nov; 109(5):535-41. PubMed ID: 11735029
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).
    Walz K; Spencer C; Kaasik K; Lee CC; Lupski JR; Paylor R
    Hum Mol Genet; 2004 Feb; 13(4):367-78. PubMed ID: 14709593
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 24(1):84-7. PubMed ID: 10615134
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular characterization of a genetically unstable region containing the SMS critical area and a breakpoint cluster for human PNETs.
    Wilgenbus KK; Seranski P; Brown A; Leuchs B; Mincheva A; Lichter P; Poustka A
    Genomics; 1997 May; 42(1):1-10. PubMed ID: 9177769
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).
    Valero MC; de Luis O; Cruces J; Pérez Jurado LA
    Genomics; 2000 Oct; 69(1):1-13. PubMed ID: 11013070
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome.
    Elsea SH; Mykytyn K; Ferrell K; Coulter KL; Das P; Dubiel W; Patel PI; Metherall JE
    Am J Med Genet; 1999 Dec; 87(4):342-8. PubMed ID: 10588842
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).
    Smith AC; Dykens E; Greenberg F
    Am J Med Genet; 1998 Mar; 81(2):186-91. PubMed ID: 9613860
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 56(1):1-11. PubMed ID: 10036180
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Efficacy of risperidone treatment in Smith-Magenis syndrome (del 17 pll. 2).
    Niederhofer H
    Psychiatr Danub; 2007 Sep; 19(3):189-92. PubMed ID: 17914318
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.
    Zhao Q; Chen KS; Bejjani BA; Lupski JR
    Genomics; 1998 May; 49(3):394-400. PubMed ID: 9615224
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2.
    Potocki L; Chen KS; Lupski JR
    Genomics; 1999 Apr; 57(1):180-2. PubMed ID: 10191102
    [No Abstract]   [Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
    Bi W; Yan J; Stankiewicz P; Park SS; Walz K; Boerkoel CF; Potocki L; Shaffer LG; Devriendt K; Nowaczyk MJ; Inoue K; Lupski JR
    Genome Res; 2002 May; 12(5):713-28. PubMed ID: 11997338
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mood disorder in a patient with Smith-Magenis syndrome: a case report.
    Bersani G; Russo D; Limpido L; Marconi D
    Neuro Endocrinol Lett; 2007 Feb; 28(1):7-10. PubMed ID: 17277733
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.