Browsing by Author Wilson, Meredith

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Issue DateTitleAuthor(s)Citation
2011Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers SyndromeProcopis, Peter; Wilson, Meredith; Brundage, Ellen K.; Compton, Alison; Li, Fang-Yuan; Thorburn, David; Troedson, Chris; Wong, Lee-Jun C.; Yamazaki, Taro; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthApplication of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome, Mitochondrion, vol.11, 1, 2011,pp 104-107
2011An Australian tuberous sclerosis cohort: Are surveillance guidelines being met?Chopra, Maya; Wilson, Meredith; Buckley, Michael F.; Camphausen, Christoph; Kennedy, Sean E.; Lawson, John; Mowat, D; Parasivam, Gayathri; Taylor, Peter J.; Wargon, Orli; Yates, Deborah; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAn Australian tuberous sclerosis cohort: Are surveillance guidelines being met?, Journal of Paediatrics and Child Health, vol.47, 10, 2011,pp 711-716
2012The behavioral phenotype of Mowat-Wilson syndromeEinfeld, Stewart; Evans, Elizabeth; Wilson, Meredith; Mowat, David; Taffe, John R.; Tonge, Bruce; Disability and Community; Psychology; Children's Hospital Westmead: Paediatrics & Child HealthThe behavioral phenotype of Mowat-Wilson syndrome, American Journal of Medical Genetics. Part A, vol.158a, 2, 2012,pp 358-366
2010CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesGrigg, John; Wilson, Meredith; Boyle, Jackie; Cox, James; et al, various; Hackett, A; Licata, Andrea; Partington, Michael; Rogers, Carolyn; Stevenson, Roger; Tarpey, Patrick; Tolmie, John; Whibley, Annabel; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child HealthCASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes, European Journal of Human Genetics, vol.18, 5,pp 544-552
2013The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyChristodoulou, John; Ho, Gladys; Wilson, Meredith; Bao, Xinhua; de Klerk, Nicholas H.; Downs, Jenny; Fehr, Stephanie; Leonard, Helen; Murgia, Alessandra; Polli, Roberta; Psoni, Stavroula; Sartori, Stefano; Vecchi, Marilena; Williams, Simon; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy, European Journal of Human Genetics, vol.21, 3, 2013,pp 266-273
2014CHARGE syndrome: A reviewMa, Alan; Munns, Craig; Wilson, Meredith; Curotta, J; Hsu, Peter; Mehr, Sam; Williams, George; School of Medical Sciences: Pathology; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCHARGE syndrome: A review, Journal of Paediatrics and Child Health, vol.50, 7, 2014,pp 504-511
2015Clinical and Molecular Characterization of the 20q11.2 Microdeletion Syndrome: Six New PatientsEwans, Lisa; Wilson, Meredith; Andrieux, Joris; Crolla, John; Demeer, Benedicte; et al, Various; Foulds, Nicola; Jedraszak, Guillaume; Mathieu-Dramard, Michele; Maye, Una; Receveur, Aline; Temple, Ik; Weber, Astrid; Children's Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthClinical and Molecular Characterization of the 20q11.2 Microdeletion Syndrome: Six New Patients, American Journal of Medical Genetics. Part A, vol.167A, 3, 2015,pp 504-511
2006Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testingGilbert, Anne; Hinchcliffe, Marcus; Ho, Phoebe (Joy); Lammi, Arti; Lindeman, Robert; Trent, Ronald; Webster, Boyd; Blackwell, Jennifer; Bowden, Donald K.; Colley, Alison; Petrou, Vicki; Rowell, John; Saleh, Mona; Wilson, Meredith; Nepean Clinical School: Medicine; Central Clinical School: Medicine; Central Clinical School: Medicine; Central Clinical School: Medicine; Medicine; Central Clinical School: Medicine; MedicineComplex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing, Pathology 2005, vol.38,(6),2006,pp 507-519
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
2011Enzyme replacement therapy "drug holiday": Results from an unexpected shortage of an orphan drug supply in AustraliaWilson, Meredith; Fletcher, Janice; Goldblatt, Jack; McGill, Jim; Szer, Jeffrey; Children's Hospital Westmead: Paediatrics & Child HealthEnzyme replacement therapy "drug holiday": Results from an unexpected shortage of an orphan drug supply in Australia, Blood Cells, Molecules and Diseases, vol.46, 1, 2011,pp 107-110
2012Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsWilson, Meredith; Christie, Louise; Corbett, Mark; Field, Michael; Friend, Kathryn; Gardner, Alison; Gecz, Jozef; Gill, Deepak S; Glubb, Georgie; Hobson, Lynne; Scheffer, Ingrid; Shaw, Marie; Willis-Owen, Saffron; Children's Hospital Westmead: Paediatrics & Child HealthExpanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations, European Journal of Human Genetics, vol.20, 7, 2012,pp 806-809
2010Genome-Wide Profiling of p63 DNA-Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 LocusWilson, Meredith; Alonso, M. Eva; Bolat, Emine; Calle-Mustienes, Elisa de la; Dutilh, Bas E.; et al, various; Kouwenhoven, Evelyn N.; Oti, Martin; Parsaulian, Lilian; Rinne, Tuula; Smeenk, Leonie; Tena, Juan J.; van Heeringen, Simon J.; Children's Hospital Westmead: Paediatrics & Child HealthGenome-Wide Profiling of p63 DNA-Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus, PLoS Genetics, vol.6, 8,pp e1001065 -1-e1001065 -15
2013Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patientsCollins, Felicity; Wilson, Meredith; Colley, Alison; Cox, Timothy; Elakis, George; et al, Various; Gabbett, Michael; Haan, Eric; Hackett, Emma; Kirk, Edwin; Le, Trang; Moon, David; Mowat, David; Roscioli, Tony; Sachdev, Rani; Thompson, Elizabeth; Turner, Anne Marie; Venselaar, Hanka; Worgan, L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthGenotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol.163, 4, 2013,pp 259-270
2014Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23Wilson, Meredith; Chioza, Barry; Crosby, Andrew; Hanson, Helen; Mansour, Sahar; Marks, Karen; Nash, Ruth; Short, John; Childrens Hospital Westmead: Paediatrics & Child HealthGermline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23, American Journal of Medical Genetics. Part A, vol.164A, 4, 2014,pp 1003-1009
2016The Immune Phenotype of Patients with CHARGE SyndromeBarnes, Elizabeth; Ma, Alan; Munns, Craig; Wilson, Meredith; Hoefsloot, Lies; Hsu, Peter; Mehr, Sam; Rinne, Tuula; Williams, George; Wong, Melanie; NH&MRC Clinical Trials Centre; Children's Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe Immune Phenotype of Patients with CHARGE Syndrome, The Journal of Allergy and Clinical Immunology: In Practice, vol.4, 1, 2016,pp 96-103e.2
2015The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian AdultsBarton, Belinda; Berman, Yemima; Crawford, Hilda; Wilson, Meredith; McKelvey-Martin, Valerie; Morrison, Patrick J.; North, Kathryn; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults, Journal of Genetic Counseling, vol.24, 6, 2015,pp 931-944
2016Interruption of enzyme replacement therapy in Gaucher diseaseWilson, Meredith; Fletcher, Janice; Goldblatt, Jack; McGill, Jim J.; Szer, J; Childrens Hospital Westmead: Paediatrics & Child HealthInterruption of enzyme replacement therapy in Gaucher disease, SAMJ South African Medical Journal, vol.106, 6, 2016,pp S79-S81
2016Interruption of enzyme replacement therapy in Gaucher diseaseWilson, Meredith; Fletcher, Janice; Goldblatt, Jack; McGill, Jim J.; Szer, J; Childrens Hospital Westmead: Paediatrics & Child HealthInterruption of enzyme replacement therapy in Gaucher disease, SAMJ South African Medical Journal, vol.106, 6, 2016,pp S79-S81
2015KIAA0586 is mutated in Joubert syndromeWilson, Meredith; Arslan, Mutluay; Bachmann-Gagescu, Ruxandra; Boyle, Evan A; Dempsey, Jennifer C; Doherty, Dan; Ishak, Gisele E; Lourenco, Charles; Phelps, Ian G; Sharma, Vivek A; Shendure, Jay; Childrens Hospital Westmead: Paediatrics & Child HealthKIAA0586 is mutated in Joubert syndrome, Human Mutation, vol.36, 9, 2015,pp 831-835
2015A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology reportCrofts, Stephanie; Grigg, John; Wilson, Meredith; Mohd Khialdin, Safinaz; Rowe, Neil; Troedson, Chris; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Hospital Westmead: Paediatrics & Child HealthA negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report, Documenta Ophthalmologica, vol.131, N/A, 2015,pp 215-220