BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 10588842)

  • 1. 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]  

  • 2. 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]  

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

  • 4. 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]  

  • 5. 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]  

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

  • 7. 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]  

  • 8. 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]  

  • 9. Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity.
    Elsea SH; Fritz E; Schoener-Scott R; Meyn MS; Patel PI
    Am J Med Genet; 1998 Jan; 75(1):104-8. PubMed ID: 9450867
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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; 69(3):320-4. PubMed ID: 9096764
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Smith-Magenis syndrome.
    Elsea SH; Girirajan S
    Eur J Hum Genet; 2008 Apr; 16(4):412-21. PubMed ID: 18231123
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.
    Tug E; Cine N; Aydin H
    Genet Couns; 2011; 22(1):11-9. PubMed ID: 21614983
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Smith-Magenis syndrome: a report of two new cases and an approximation to their characteristic behavioural phenotype].
    Blanco-Barca O; Gallego-Blanco M; Ruiz-Ponte C; Barros-Angueira F; Esquete-López C; Eirís-Puñal J; Castro-Gago M
    Rev Neurol; 2004 Jun 1-15; 38(11):1038-42. PubMed ID: 15202082
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.