Browsing by Author Gecz, Jozef

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Issue DateTitleAuthor(s)Citation
2018Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 EpilepsyDale, Russell; Gecz, Jozef; Hughes, James; Kumar, Raman; Mandelstam, Simone; Mincheva-Tasheva, Stefka; Pederick, Daniel; Petrou, Steven; Piltz, Sandra; Richards, Kay; Scheffer, Ingrid; Thomas, Paul; Childrens Hospital Westmead: Paediatrics & Child HealthAbnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy, Neuron, vol.97, 1, 2018,pp 59-66
2010Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related DisordersBennetts, Bruce; Christodoulou, John; Cloosterman, Desiree; Ellaway, Carolyn; Ho, Gladys; White, Rose; Bienvenu, Thierry; Cox, Timothy; Darmanian, Artur; Fischer, Alexandra; Fullston, Tod; Gecz, Jozef; Kalra, Veena; Nectoux, Juliette; Scheffer, Ingrid; Schmidt, Swetlana; Tong, Xing Zhang; Yendle, Simone; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Biological Sciences; Central Clinical School: OfficeCyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders, Twin Research and Human Genetics, vol.13, 2,pp 168-178
2005Early onset seizures and Rett-like features associated with mutations in CDKL5.Christodoulou, John; Archer, Hayley L; Colley, James P; et, al; Evans, Julie C; Gecz, Jozef; Jardine, Philip E; Kerr, Alison; Nielsen, Jytte Bieber; Ravn, Kirstine; Williams, Elizabeth; Children's Hospital Westmead: Paediatrics & Child HealthEarly onset seizures and Rett-like features associated with mutations in CDKL5., European Journal of Human Genetics (2005), vol.13,(10),2005,pp 1113-20
2008Exclusion of biglycan mutations in a cohort of patients with neuromuscular disordersNorth, Kathryn; Fallon, Justin; Futreal, Andrew; Gecz, Jozef; Lamande, Shireen R.; Peat, Rachel; Smith, Raffaella; Stratton, Michael; Tarpey, Patrick; Yang, Nan; Children's Hospital Westmead: Paediatrics & Child HealthExclusion of biglycan mutations in a cohort of patients with neuromuscular disorders, Neuromuscular Disorders, vol.18, 8, 2008,pp 606-609
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
2004Mutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation.Bennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Lahooti, Hooshang; Pelka, G; Tam, Patrick; Watson, Catherine; Weaving, Linda; Williamson, Susan; Archer, Hayley; Clarke, Angus; Evans, Julie; Friend, Kathie L; Gecz, Jozef; Leonard, Helen; McKenzie, Olivia L D; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Nepean Clinical School: Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Medicine Faculty OfficeMutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation., American Journal of Human Genetics, vol.75,(N/A),2004,pp 1079-1093
2006Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.Ang, Sharyn; McAvoy, Johnston; Craig, Jamie E.; Gecz, Jozef; Mackey, David A.; Sharma, Shiwani; Shaw, Marie; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye HealthNance-Horan syndrome protein, NHS, associates with epithelial cell junctions., Human Molecular Genetics, vol.15,(12),2006,pp 1972-1983
2016New insights into Brunner syndrome and potential for targeted therapyChampion, Bernard; Cheung, Ngai; Earl, John; Carroll, Renee; Field, Michael; Gecz, Jozef; Haas, Stefan A; Hu, Hao; Kalscheuer, Vera; Leffler, Melanie; Palmer, Emma; Rogers, C; Shaw, Marie A; Nepean Clinical School: Medicine; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child HealthNew insights into Brunner syndrome and potential for targeted therapy, Clinical Genetics, vol.89, 1, 2016,pp 120-127
2009NHS-A isoform of the NHS gene is a novel interactor of ZO-1McAvoy, Johnston; Sugiyama, Yuki; Collin, Caitlin; Craig, Jamie E.; Dave, Alpana; Gecz, Jozef; Koh, Katrina; mcMellon, Amy E.; Sharma, Shiwani; Voss, Anne; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.NHS-A isoform of the NHS gene is a novel interactor of ZO-1, Experimental Cell Research: emphasizing molecular approaches to cell biology, vol.315, 14,pp 2358-2372
2013NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsyDale, Russell; Ouvrier, Robert; Gardner, Alison; Gecz, Jozef; Haan, Eric; MacLennan, A; McMichael, G.; Thompson, Suzanna; Yap, Tzu Ying; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthNKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy, European Journal of Medical Genetics, vol.56, 9, 2013,pp 506-509