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    Results: 18

    1.

    Novel SOX2 partner-factor domain mutation in a four-generation family.

    Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, Chen Y, Donald J, Tam PP, Grigg JR, Flaherty M, Gole GA, Jamieson RV.

    Eur J Hum Genet. 2009 Nov;17(11):1417-22. Epub 2009 May 27.PMID: 19471311 [PubMed - in process]Related articles

    2.

    Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

    Sharma S, Burdon KP, Dave A, Jamieson RV, Yaron Y, Billson F, Van Maldergem L, Lorenz B, Gécz J, Craig JE.

    Mol Vis. 2008;14:1856-64. Epub 2008 Oct 20.PMID: 18949062 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.

    Mihelec M, St Heaps L, Flaherty M, Billson F, Rudduck C, Tam PP, Grigg JR, Peters GB, Jamieson RV.

    Twin Res Hum Genet. 2008 Aug;11(4):412-21. Review.PMID: 18637741 [PubMed - indexed for MEDLINE]Related articles

    4.

    Dkk1 and Wnt3 interact to control head morphogenesis in the mouse.

    Lewis SL, Khoo PL, De Young RA, Steiner K, Wilcock C, Mukhopadhyay M, Westphal H, Jamieson RV, Robb L, Tam PP.

    Development. 2008 May;135(10):1791-801. Epub 2008 Apr 9.PMID: 18403408 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    PAX6 mutations may be associated with high myopia.

    Hewitt AW, Kearns LS, Jamieson RV, Williamson KA, van Heyningen V, Mackey DA.

    Ophthalmic Genet. 2007 Sep;28(3):179-82.PMID: 17896318 [PubMed - indexed for MEDLINE]Related articles

    6.

    Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

    Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC, Donnai D, Black GC.

    Hum Mutat. 2007 Oct;28(10):968-77.PMID: 17492639 [PubMed - indexed for MEDLINE]Related articles

    7.

    A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.

    Perveen R, Favor J, Jamieson RV, Ray DW, Black GC.

    Hum Mol Genet. 2007 May 1;16(9):1030-8. Epub 2007 Mar 20.PMID: 17374726 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.

    Palmer SJ, Tay ES, Santucci N, Cuc Bach TT, Hook J, Lemckert FA, Jamieson RV, Gunnning PW, Hardeman EC.

    Gene Expr Patterns. 2007 Feb;7(4):396-404. Epub 2006 Dec 1.PMID: 17239664 [PubMed - indexed for MEDLINE]Related articles

    9.

    Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

    Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, Tam P, Billson F, Grigg J, Peters G, Jamieson RV.

    Am J Med Genet A. 2006 Aug 15;140(16):1711-8.PMID: 16835935 [PubMed - indexed for MEDLINE]Related articles

    10.

    Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis.

    Jamieson RV, Gaunt L, Donnai D, Black GC, Kerr B, Stecko O, Black GC.

    Br J Ophthalmol. 2003 May;87(5):646-8. No abstract available. PMID: 12714415 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.

    Jamieson RV, Munier F, Balmer A, Farrar N, Perveen R, Black GC.

    Br J Ophthalmol. 2003 Apr;87(4):411-2.PMID: 12642301 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding.

    Lyon MF, Jamieson RV, Perveen R, Glenister PH, Griffiths R, Boyd Y, Glimcher LH, Favor J, Munier FL, Black GC.

    Hum Mol Genet. 2003 Mar 15;12(6):585-94.PMID: 12620964 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

    Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC.

    Hum Mol Genet. 2002 Jan 1;11(1):33-42.PMID: 11772997 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    The allocation and differentiation of mouse primordial germ cells.

    Tsang TE, Khoo PL, Jamieson RV, Zhou SX, Ang SL, Behringer R, Tam PP.

    Int J Dev Biol. 2001;45(3):549-55.PMID: 11417898 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Retarded postimplantation development of X0 mouse embryos: impact of the parental origin of the monosomic X chromosome.

    Jamieson RV, Tan SS, Tam PP.

    Dev Biol. 1998 Sep 1;201(1):13-25.PMID: 9733570 [PubMed - indexed for MEDLINE]Related articles

    16.

    Sertoli cell differentiation and Y-chromosome activity: a developmental study of X-linked transgene activity in sex-reversed X/XSxra mouse embryos.

    Jamieson RV, Zhou SX, Wheatley SC, Koopman P, Tam PP.

    Dev Biol. 1998 Jul 15;199(2):235-44.PMID: 9698443 [PubMed - indexed for MEDLINE]Related articles

    17.

    X-chromosome inactivation during the development of the male urogenital ridge of the mouse.

    Jamieson RV, Zhou SX, Tan SS, Tam PP.

    Int J Dev Biol. 1997 Feb;41(1):49-55.PMID: 9074937 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    X-chromosome activity: impact of imprinting and chromatin structure.

    Jamieson RV, Tam PP, Gardiner-Garden M.

    Int J Dev Biol. 1996 Dec;40(6):1065-80. Review.PMID: 9032012 [PubMed - indexed for MEDLINE]Related articlesFree article

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