K. Livesey

发表

Evidence From Human Myectomy Samples That MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy Through Haploinsufficiency*

H. Watkins, V. Tsang, W. McKenna, 2009, Circulation research.

ZAP-70 expression in chronic lymphocytic leukemia: a new parameter for an old disease

Jennifer J. Pointon, M. Ferrari, R. Paroni, 2003 .

A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis

J. J. Pointon, J. Emery, Jennifer J. Pointon, 2003, Journal of internal medicine.

A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.

Jennifer J. Pointon, K. Robson, P. Mackie, 2002, Blood.

Pilot Study of Early Diagnosis of Hereditary Haemochromatosis through Systematic Case Finding in Primary Care

J. Emery, Jennifer J. Pointon, K. Robson, 2002, Public Health Genomics.

Hemochromatosis gene (HFE) mutations in South East Asia: a potential for iron overload.

Jennifer J. Pointon, T. Hien, V. Viprakasit, 2003, Blood cells, molecules & diseases.

Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer’s disease

A. Smith, D. Lehmann, D. Warden, 2004, Journal of Medical Genetics.

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

R. Chapman, Jennifer J. Pointon, V. Viprakasit, 2003, Human molecular genetics.

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading

M. Worwood, Jennifer J. Pointon, K. Robson, 2004, Journal of Medical Genetics.

Synergy between the C 2 allele of transferrin and the C 282 Y allele of the haemochromatosis gene ( HFE ) as risk factors for developing Alzheimer ’ s disease

D. Lehmann, D. Warden, M. Combrinck, 2004 .

Evidence for haploinsufficiency as the mechanism of action of MyBP-C mutations that cause HCM

H. Watkins, S. Carballo, C. Redwood, 2008 .