Browsing by Author Black, Graeme C. M.

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Issue DateTitleAuthor(s)Citation
2007Characterization 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 translocationGrigg, John; Jamieson, Robyn; Lovicu, Frank; McAvoy, Johnston; Black, Graeme C. M.; Carette, Martin; Donnai, D; Farrar, Nicola; Lloyd, I. C.; Mihelec, Marija; Perveen, Rahat; Scambler, Peter; Stewart, Katrina; Tam, Patrick P.L.; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; School of Medical Sciences: Anatomy & Histology; Central Clinical School: Clinical Ophthal & Eye HealthCharacterization 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, Human Mutation, vol.28,(10),2007,pp 968-977
2003Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysisJamieson, Robyn; Black, Graeme C. M.; Donnai, D; Gaunt, L; Kerr, B; Stecko, O; Children's Hospital Westmead: Paediatrics & Child HealthChromosomal translocation in a family with ocular anomalies: indications for karyotype analysis, British Journal of Ophthalmology, vol.87,(5),2003,pp 646-648
2003A dominant mutation within the DNA-binding domain ofthe bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA bindingJamieson, Robyn; Black, Graeme C. M.; Boyd, Yvonne; Favor, Jack; Glenister, Peter H.; Glimcher, Laurie H.; Griffiths, Robert; Lyon, Mary F; Munier, Francis L.; Perveen, Rahat; Children's Hospital Westmead: Paediatrics & Child HealthA dominant mutation within the DNA-binding domain ofthe bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding, Human Molecular Genetics, vol.12,(6),2003,pp 585-594