Browsing by Author Perveen, Rahat

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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
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
2015Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationBecker, Thomas; Cheng, Anson; Greenlees, Rebecca; Grigg, John; Jamieson, Robyn; Loebel, David; Ma, Alan; Mihelec, Marija; Nash, Benjamin; Prokudin, Ivan; Rinkwitz, Silke; Speidel, Daniel; Tam, Patrick; Yousoof, Saira Bahnu Mohamed; Black, Graeme C M; Clayton-Smith, Jill; Gillespie, Rachel; Lloyd, I. Christopher; Perveen, Rahat; Semina, Elena; Wu, Selwin K; Yap, Alpha; School of Medical Sciences: Brain and Mind Centre; Central Clinical School: Save Sight & Eye Health Inst.; Biological Sciences; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; School of Medical Sciences: Pathology; Central Clinical School: Save Sight & Eye Health Inst.; Children's Hospital Westmead: Childrens Medical Research Ins; Central Clinical School: Ophthalmology & Eye Health; School of Medical Sciences: Brain and Mind Centre; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; SAHCS: Clinical Ophthalmology and Eye HealthMutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization, Human Molecular Genetics, vol.24, 20, 2015,pp 5789-5804