Browsing by Author Mihelec, Marija

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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
2008Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and GlaucomaBillson, FranK; Grigg, John; Jamieson, Robyn; Peters, Gregory; Tam, Patrick; Flaherty, Maree; Mihelec, Marija; Rudduck, Christina; St Heaps, Luke; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsChromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma, Twin Research and Human Genetics, vol.11,(4),2008,pp 412-421
2006Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.Billson, FranK; Grigg, John; Haywood, Ashley; Jamieson, Robyn; Mihelec, Marija; Nolen, Leisha; Tam, Patrick; Willcock, Christopher; Amor, David; Peters, Greg; St. Heaps, Luke; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Save Sight & Eye Health Inst.; Children's Hospital Westmead: Childrens Medical Research Ins; Clinical SchoolsDeletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies., American journal of medical genetics Part A, vol.140,(16),2006,pp 1711-1718
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
2009Novel SOX2 partner-factor domain mutation in a four-generation familyGrigg, John; Jamieson, Robyn; Tam, Patrick; Abraham, Peter; Chen, Yongjuan; Donald, Jenny; Flaherty, Maree; Gibson, Kate; Gole, Glen A.; Krowka, Renata; Mihelec, Marija; Storen, Rebecca; Susman, Rachel D.; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsNovel SOX2 partner-factor domain mutation in a four-generation family, European Journal of Human Genetics, vol.17, 11,pp 1417-1422
2010Twist2: Role in Corneal Stromal Keratocyte Proliferation and Corneal ThicknessGrigg, John; Jamieson, Robyn; Mihelec, Marija; Storen, Rebecca; Tam, Patrick; Weaving, Linda; Sosic, Drazen; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthTwist2: Role in Corneal Stromal Keratocyte Proliferation and Corneal Thickness, Investigative Ophthalmology & Visual Science, vol.51, 11,pp 5561-5570