S. Williamson

发表

fever Allogeneic bone marrow transplantation: cure for familial Mediterranean

T. Roscioli, J. Christodoulou, J. Milledge, 2013 .

Allogeneic bone marrow transplantation: cure for familial Mediterranean fever.

T. Roscioli, J. Christodoulou, J. Milledge, 2002, Blood.

Effects of MECP2 mutation type, location and X‐inactivation in modulating Rett syndrome phenotype

N. Laing, J. Christodoulou, H. Leonard, 2003, American journal of medical genetics. Part A.

Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome

A. Clarke, J. Christodoulou, C. Zweier, 2012, American journal of medical genetics. Part A.

Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype

P. Tam, J. Christodoulou, G. Peters, 2014, European Journal of Human Genetics.

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain

Andrew J. Grimm, P. Tam, J. Christodoulou, 2011, Human Genetics.

PRACTICAL GENETICS In association with Rett syndrome : new clinical and molecular insights

J. Christodoulou, S. Williamson, 2006 .

Rett syndrome in Australia: a review of the epidemiology.

Carol Bower, J. Christodoulou, H. Leonard, 2006, The Journal of pediatrics.

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

J. Gécz, A. Clarke, P. Tam, 2004, American journal of human genetics.

Correlation between clinical severity in patients with Rett syndrome with a p . R 168 X or p . T 158 M MECP 2 mutation , and the direction and degree of skewing of X-chromosome inactivation

T. Charman, A. Clarke, J. Christodoulou, 2007 .

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

T. Charman, A. Clarke, J. Christodoulou, 2006, Journal of Medical Genetics.

Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.

P. Tam, J. Christodoulou, M. Shahbazian, 2005, Human molecular genetics.

Genotype and early development in Rett syndrome: The value of international data

J. Christodoulou, H. Leonard, N. Klerk, 2005, Brain and Development.

Mutation Analysis of MECP2 and Determination of the X-Inactivation Pattern in Hungarian Rett Syndrome Patients

A. Silahtaroglu, N. Laing, M. Schwartz, 2004 .

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain

Andrew J. Grimm, P. Tam, J. Christodoulou, 2012, Human Genetics.

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

J. Christodoulou, H. Leonard, D. Ravine, 2005, Journal of Medical Genetics.

Refining the phenotype of common mutations in Rett syndrome

J Christodoulou, H Leonard, J. Christodoulou, 2004, Journal of Medical Genetics.

Predictors of seizure onset in Rett syndrome.

J. Christodoulou, H. Leonard, D. Ravine, 2006, The Journal of pediatrics.

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Robert L L Smith, S. Hardwick, J. Christodoulou, 2007, European Journal of Human Genetics.

MECP2 recurrent mutation in exon 1 of Lost in translation: translational interference from a

J. Christodoulou, H. Leonard, P. Macleod, 2008 .

Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp 2 308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-inactivation

P. Tam, J. Christodoulou, M. Shahbazian, 2005 .

Mitochondrial dysfunction in skeletal muscle of a mouse model of Rett Syndrome ( RTT ) : Implications for the disease phenotype .

P. Tam, J. Christodoulou, I. Hargreaves, 2014 .

Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain

J. Christodoulou, A. El-Osta, B. Slobedman, 2010, BMC Neuroscience.

X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype

J. Christodoulou, S. Arbuckle, S. Williamson, 2005, Brain and Development.

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

T. Matsuishi, A. Clarke, J. Christodoulou, 2003, Journal of medical genetics.

skewing of X chromosome inactivation MECP2 mutation and the direction and degree of syndrome patients with a p.R168X or p.T158M Correlation between clinical severity in Rett

T. Charman, A. Clarke, H. Leonard, 2006 .

Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype.

W. Gold, S. Kaur, G. Pelka, 2014, Mitochondrion.

Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain

J. Christodoulou, A. El-Osta, B. Slobedman, 2010, BMC Neuroscience.