Browsing by Author Jamieson, Robyn

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 20 of 36  next >
Issue DateTitleAuthor(s)Citation
2013Acetazolamide in Retinoschisis: A Prospective StudyGrigg, John; Gurbaxani, Avinash Ashok; Jamieson, Robyn; McCluskey, Peter; Succar, Tony; Wei, Michael; 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: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Save Sight & Eye Health Inst.Acetazolamide in Retinoschisis: A Prospective Study, Ophthalmology, vol.121, 3, 2013,pp 802-803
2015Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital AmaurosisJamieson, Robyn; Crofts, Stephanie; et al, Various; Flaherty, Maree; Guo, Yiran; Liang, Jinlong; Prokudin, I; Tian, Lifeng; Wang, Fengxiang; Xie, Yi; Yu, Cong; Childrens Medical Research Institute (CMRI)Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis, Ophthalmic Genetics, vol.36, 4, 2015,pp 333-338
2016Changing patterns in paediatric optic atrophy aetiology: 1979 to 2015Do, Helen; Grigg, John; Jamieson, Robyn; Sandercoe, Trent; Zheng, Linda; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Medical Research Institute (CMRI); Central Clinical School: Clinical Ophthal & Eye HealthChanging patterns in paediatric optic atrophy aetiology: 1979 to 2015, Clinical and Experimental Ophthalmology, vol.44, 7, 2016,pp 574-581
2016Changing patterns in paediatric optic atrophy aetiology: 1979 to 2015Do, Helen; Grigg, John; Jamieson, Robyn; Sandercoe, Trent; Zheng, Linda; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Medical Research Institute (CMRI); Central Clinical School: Clinical Ophthal & Eye HealthChanging patterns in paediatric optic atrophy aetiology: 1979 to 2015, Clinical and Experimental Ophthalmology, vol.44, 7, 2016,pp 574-581
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
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
2013Clinical Embryology and Development of the EyeGrigg, John; Jamieson, Robyn; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child HealthClinical Embryology and Development of the Eye in Pediatric Ophthalmology and Strabismus Fourth Edition, Saunders Elsevier, 2013, pp. 9-15
2009Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomataJamieson, Robyn; Balachandran, C.; Engle, Elizabeth C.; Flaherty, Maree; Children's Hospital Westmead: Paediatrics & Child HealthCongenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata, Ophthalmic Genetics, vol.30, 2,pp 91-95
2006Congenital iris ectropion as an indicator of variant aniridiaBillson, Frank; Grigg, John; Jamieson, Robyn; Tam, Patrick; Willcock, Christopher; Wilson, Meredith; 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: Childrens Medical Research Ins; Clinical SchoolsCongenital iris ectropion as an indicator of variant aniridia, British Journal of Ophthalmology, vol.90,(5),2006,pp 658-659
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
2014Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech DisordersJamieson, Robyn; Prokudin, Ivan; Yousoof, Saira; Aksoy, Irene; Chen, Pauline J; Chew, Elaine G Y; et al, .; Hillmer, Axel M; Lee, Charlie W H; Seng, Chan Chee; Teo, Audrey S M; Utami, Kagistia H; Zhang, Zhenshui; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Ophthalmology & Eye Health; Children's Hospital Westmead: Paediatrics & Child HealthDetection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders, PLoS One, vol.9, 3, 2014,pp 1-10
2008Dkk1 and Wnt3 interact to control head morphogenesis in the mouseJamieson, Robyn; Khoo, Poh-Lynn; Lewis, Samara; Steiner, Kirsten; Tam, Patrick; Willcock, Christopher; Young, Andrea; Mukhopadhyay, Mahua; Robb, Lorraine; Westphal, Heiner; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; School of Public Health: NH&MRC Clinical Trials Centre; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Clinical Schools; Children's Hospital Westmead: Childrens Medical Research InsDkk1 and Wnt3 interact to control head morphogenesis in the mouse, Development (Cambridge), vol.135, 10, 2008,pp 1791-1801
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
2014Exome sequencing in developmental eye disease leads to identfication of causal variants in GJA8, CRYGC, PAX6 and CYP1B1Grigg, John; Jamieson, Robyn; Storen, Rebecca; Davila, S; Flaherty, Maree; Kumar, V; Phua, Z.Y.; Prokudin, I; Simons, Cas; Smith, J; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye HealthExome sequencing in developmental eye disease leads to identfication of causal variants in GJA8, CRYGC, PAX6 and CYP1B1, European Journal of Human Genetics, vol.22, 7, 2014,pp 907-915
2006Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.Bach, Thi Thu Cuc; Gunning, Peter; Hardeman, Edna; Hook, Jeff; Jamieson, Robyn; Lemckert, Francis; Palmer, Stephen; Santucci, Nicole; Tay, Enoch; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Centre Continuing Education; Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead)Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development., Gene expression patterns : GEP, vol.7,(N/A),2006,pp 396-404
2013GeneticsGrigg, John; Jamieson, Robyn; Gupta, Viney; Mackey, David; Schimmenti, Lisa; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child HealthGenetics in Childhood Glaucoma, Kugler Publications, 2013, pp. 43-60
2010Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon GuidanceJamieson, Robyn; Andrews, Caroline; Baris, Hagit N.; Chan, Wai-Man; Demer, Joseph L.; et al, Various; He, Wei; Rudolph, Guenther; Tischfield, Max A.; Van Maldergem, Lionel; Wu, Chen; Children's Hospital Westmead: Paediatrics & Child HealthHuman TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance, Cell, vol.140, 1, 2010,pp 74-87
2012An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGomes, Lavier; Jamieson, Robyn; Menezes, Manoj; Andrews, Caroline; Cederquist, Gustav; Chan, Wai-Man; Chew, Sheena; Engle, Elizabeth C.; Flaherty, Maree; Grant, Patricia Ellen; Gupta, Mohan; Luchniak, Anna; Peeva, Maya; Song, Yuyu; Tischfield, Max A.; Western Clinical School: Imaging; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAn inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation, Human Molecular Genetics, vol.21, 26, 2012,pp 5484-5499
2011Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringBennetts, Bruce; Jamieson, Robyn; Storen, Rebecca; Savarirayan, Ravi; Stark, Zornitza; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye HealthIsolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring, European Journal of Human Genetics, vol.19, 72, 2011,pp 753-756