Browsing by Author Williamson, Sarah L

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Issue DateTitleAuthor(s)Citation
2015Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotypeChristodoulou, John; Ellaway, Carolyn; Peters, Gregory; Tam, Patrick; Pelka, Gregory J; Williamson, Sarah L; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsDeletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype, European Journal of Human Genetics, vol.23, 9, 2015,pp 1171-1175
2010Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brainChristodoulou, John; Gibson, Joanne; Slobedman, Barry; El-Osta, Assam; Harikrishnan, K. N.; Minchenko, Dimitri; Stern, J. Lewis; Williamson, Sarah L; Childrens Hospital Westmead: Paediatrics & Child Health; Biological Sciences; Infectious DiseasesDownstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain, BMC Neuroscience, vol.11, 53, 2010,pp 53-1-53-16
2003Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotypeBennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Weaving, Linda; Davis, Mark; Delatycki, Martin; Laing, Nigel G.; Leonard, Helen; Thompson, Elizabeth M.; Thong, Meow-Keong; Williamson, Sarah L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEffects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype, American Journal of Medical Genetics Part A, vol.118A,(N/A),2003,pp 103-114
2003Increasing attendance at colorectal cancer screening: Testing the efficacy of a mailed, psychoeducational intervention in a community sample of older adultsMcCaffery, Kirsten; Atkin, Wendy; Edwards, Robert; Sutton, Stephen; Taylor, Tamara; Wardle, Jane; Williamson, Sarah L; School of Public Health: Public HealthIncreasing attendance at colorectal cancer screening: Testing the efficacy of a mailed, psychoeducational intervention in a community sample of older adults, Health Psychology, vol.22,(1),2003,pp 99-105
2014Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotypeChristodoulou, John; Gold, Wendy; Tam, Patrick; Hargreaves, Iain; Kaur, Sukhdeep; Land, John; Pelka, Gregory; Williamson, Sarah L; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsMitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype, Mitochondrion, vol.15, N/A, 2014,pp 10-17
2012A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brainChristodoulou, John; Tam, Patrick; Giudici, Laura; Gold, Wendy; Grimm, Andrew; Kilstrup-Nielsen, Charlotte; Landsberger, Nicoletta; Pelka, Gregory J; Prodi, Dionigio; Williamson, Sarah L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsA novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain, Human Genetics, vol.131, 2, 2012,pp 187-200
2003Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?Christodoulou, John; Clarke, A.; Colvin, Lyn; Davis, Mark; de Klerk, Nicholas H.; Fyfe, Susan; Hackwell, S.; Kondo, I.; Leonard, H.; Matsuishi, T.; Ravine, D.; Schiavello, T.; Williamson, Sarah L; Yamashita, Y.; Children's Hospital Westmead: Paediatrics & Child HealthPatients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?, Journal of Medical Genetics, vol.40,(e52),2003,pp 1-7
2012Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndromeArmani, Roksana; Christodoulou, John; Ho, Gladys; Archer, Hayley L.; Clarke, Angus; Cloosterman, Desiree; Vasudevan, Pradeep; Williamson, Sarah L; Yang, Nan; Zweier, Christiane; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthTranscription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome, American Journal of Medical Genetics. Part A, vol.158A, 4, 2012,pp 713-719