Searching journal content for articles similar to Dixon et al. 7 (3): 223.

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  1. Perspective: Insights into neural crest development and evolution from genomic analysis
    • Marcos Simões-Costa and
    • Marianne E. Bronner
    Genome Res. July 2013 23: 1069-1080; doi:10.1101/gr.157586.113
    ...development (The Treacher Collins Syndrome Collaborative Group 1996; Trainor 2010). Genetic mapping and gene expression analysis identified mutations in the Tcof1 gene as the cause of the disease. Mapping of TCOF1 expression in mouse embryos shows that it is enriched in neural crest cells and facialmesenchyme...
  2. LETTER: A Preliminary Gene Map for the Van der Woude Syndrome Critical Region Derived from 900 kb of Genomic Sequence at 1q32–q41
    • Brian C. Schutte,
    • Bryan C. Bjork,
    • Kevin B. Coppage,
    • Margaret I. Malik,
    • Simon G. Gregory,
    • Deborah J. Scott,
    • Luci M. Brentzell,
    • Yoriko Watanabe,
    • Michael J. Dixon,
    • and Jeffrey C. Murray
    Genome Res. January 1, 2000 10: 81-94; doi:10.1101/gr.10.1.81
    .... 180500), Treacher Collins syndrome (OMIM no. 154500), and Stickler syndrome (OMIM no. 108300, 184840). In these syndromes, haploinsufficiency is evidenced by deletions and/or loss-of-function mutations ( Lu-Kuo et al. 1993 ; Wu et al. 1993 ; Semina et al. 1996 ; Edwards et al. 1997 ; Wicking et al. 1997...
  3. Research: Natural genetic variation caused by small insertions and deletions in the human genome
    • Ryan E. Mills,
    • W. Stephen Pittard,
    • Julienne M. Mullaney,
    • Umar Farooq,
    • Todd H. Creasy,
    • Anup A. Mahurkar,
    • David M. Kemeza,
    • Daniel S. Strassler,
    • Chris P. Ponting,
    • Caleb Webber,
    • and Scott E. Devine
    Genome Res. June 2011 21: 830-839; Published in Advance April 1, 2011, doi:10.1101/gr.115907.110
    ...(Nijmegen Breakage Syndrome; OMIM: 251260) (Dumon-Jones et al. 2003; Resnick et al. 2003; Tanzanella et al. 2003), and TCOF1 (Treacher Collins syndrome; OMIM: 154500) (Supplemental Table 6; Dixon et al. 2000;Marzalek et al. 2003; Shoo et al. 2004). These analyses indicate that at least some of our INDELs...
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