Directions for clinical practice improvement in HFE gene mutation testing
Objective: To audit the clinical indications for HFE gene mutation testing in a consecutive series of requests.Design: Retrospective audit of reasons prompting 187 HFE test requests received between June 2003 and June 2005, by examination of the request form, hospital notes (when available) and, whe...
| Main Authors: | Gillett, M., Marmotte, Cyril, Ravine, D., Vasikaran, S. |
|---|---|
| Format: | Journal Article |
| Published: |
Australian Medical Association
2007
|
| Online Access: | http://www.mja.com.au/public/issues/187_06_170907/gil11340_fm.html http://hdl.handle.net/20.500.11937/32848 |
Similar Items
Noncitrus Fruits as Novel Dietary Environmental Modifiers of Iron Stores in People With or Without HFE Gene Mutations
by: Milward, E., et al.
Published: (2008)
by: Milward, E., et al.
Published: (2008)
Population-based study of the relationship between mutations in the hemochromatosis (HFE) gene and arthritis
by: Sherrington, C., et al.
Published: (2006)
by: Sherrington, C., et al.
Published: (2006)
Effects of HFE gene mutations and alcohol on iron status, liver biochemistry and morbidity
by: Olynyk, John, et al.
Published: (2011)
by: Olynyk, John, et al.
Published: (2011)
HFE gene polymorphisms in Malays
by: Jatta, Francis
Published: (2020)
by: Jatta, Francis
Published: (2020)
Prevalence, Characteristics, and Prognostic Significance of HFE Gene Mutations in Type 2 Diabetes: The Fremantle Diabetes Study
by: Davis, T., et al.
Published: (2008)
by: Davis, T., et al.
Published: (2008)
Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests
by: Adris, N., et al.
Published: (2018)
by: Adris, N., et al.
Published: (2018)
Mutations in the HFE gene and cardiovascular disease risk: an individual patient data meta-analysis of 53 880 subjects
by: van der A, D., et al.
Published: (2008)
by: van der A, D., et al.
Published: (2008)
Hereditary hemochromatosis in the post-HFE era
by: Olynyk, John, et al.
Published: (2008)
by: Olynyk, John, et al.
Published: (2008)
The challenge of improving the diagnostic yield from metanephrine testing in suspected phaeochromocytoma and paraganglioma
by: Samsudin, Intan Nureslyna, et al.
Published: (2018)
by: Samsudin, Intan Nureslyna, et al.
Published: (2018)
Non-Hfe iron overload: Is phlebotomy the answer?
by: Hazeldine, S., et al.
Published: (2013)
by: Hazeldine, S., et al.
Published: (2013)
Natural history and management of HFE hemochromatosis
by: Gan, E., et al.
Published: (2011)
by: Gan, E., et al.
Published: (2011)
Iron-overload-related disease in HFE hereditary hemochromatosis
by: Allen, K., et al.
Published: (2008)
by: Allen, K., et al.
Published: (2008)
Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age
by: Shi, Z., et al.
Published: (2009)
by: Shi, Z., et al.
Published: (2009)
Letter: Reduced mortality due to phlebotomy in moderately iron-loaded HFE haemochromatosis? The need for clinical trials
by: Delatycki, M., et al.
Published: (2015)
by: Delatycki, M., et al.
Published: (2015)
The Role of Hfe in Transferrin-Bound Iron Uptake by Hepatocytes
by: Chua, A., et al.
Published: (2008)
by: Chua, A., et al.
Published: (2008)
Clinical utility and measurement of procalcitonin
by: Samsudin, Intan Nureslyna, et al.
Published: (2017)
by: Samsudin, Intan Nureslyna, et al.
Published: (2017)
Brain transcriptome perturbations in the Hfe -/- mouse model of genetic iron loading
by: Johnstone, D., et al.
Published: (2012)
by: Johnstone, D., et al.
Published: (2012)
HFE C282Y homozygotes are at increased risk of breast and colorectal cancer
by: Osborne, N., et al.
Published: (2010)
by: Osborne, N., et al.
Published: (2010)
A study of rbl gene in malaysian children
with retinoblastoma: association of exon
18 mutation with clinical presentation
by: Tajuddin, Liza Sharmini Ahmad
Published: (2011)
by: Tajuddin, Liza Sharmini Ahmad
Published: (2011)
Accuracy in mechanistic pavement design consequent upon unbound material testing
by: Gillett, Simon D.
Published: (2002)
by: Gillett, Simon D.
Published: (2002)
The Clinical Significance Of Npm1, Flt3 And Cebpa Gene Mutations In Adult Patients With Acute Myeloid Leukaemia
by: Ul Haq, Izaz
Published: (2020)
by: Ul Haq, Izaz
Published: (2020)
Craniofacial morphology of class III malocclusion with DUSP6 gene: Mutation and non-mutation groups
by: Nowrin, Shifat A, et al.
Published: (2016)
by: Nowrin, Shifat A, et al.
Published: (2016)
The characterization and thermo-physical property investigations of SiO2/HFE7000 nanorefrigerants
by: M. R. M., Nawi, et al.
Published: (2018)
by: M. R. M., Nawi, et al.
Published: (2018)
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations
by: Caparrós-Martín, Jose, et al.
Published: (2013)
by: Caparrós-Martín, Jose, et al.
Published: (2013)
p.R270X MECP2 mutation and mortality in Rett syndrome
by: Jian, Le, et al.
Published: (2005)
by: Jian, Le, et al.
Published: (2005)
The Natural History of Serum Iron Indices for HFE C282Y Homozygosity Associated With Hereditary Hemochromatosis
by: Gurrin, L., et al.
Published: (2008)
by: Gurrin, L., et al.
Published: (2008)
Improving enzyme catalysis through the improvement of binding strength: simulated mutation to predict the mutational effect on Xylanase Cex
by: Noorbatcha, Ibrahim Ali, et al.
Published: (2011)
by: Noorbatcha, Ibrahim Ali, et al.
Published: (2011)
Compassion in Clinical Practice: Current Applications and New Directions
by: Finlay-Jones, Amy
Published: (2017)
by: Finlay-Jones, Amy
Published: (2017)
Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: Laboratory diagnosis and clinical importance
by: Chow, A., et al.
Published: (2013)
by: Chow, A., et al.
Published: (2013)
Towards semantic mutation testing of aspect-oriented programs
by: Abd Ghani, Abdul Azim
Published: (2013)
by: Abd Ghani, Abdul Azim
Published: (2013)
Class III malocclusion: missense mutations in DUSP6 gene
by: Nowrin, Shifat A., et al.
Published: (2019)
by: Nowrin, Shifat A., et al.
Published: (2019)
Identification of missense mutations in genes related to
cancer pathways in glioma
by: Nor Azian Abdul Murad,, et al.
Published: (2016)
by: Nor Azian Abdul Murad,, et al.
Published: (2016)
Survey of clinical infant lung function testing practices
by: Peterson-Carmichael, S., et al.
Published: (2014)
by: Peterson-Carmichael, S., et al.
Published: (2014)
Mutations and polymorphisms of the skeletal muscle a-actin gene (ACTA1)
by: Laing, N., et al.
Published: (2009)
by: Laing, N., et al.
Published: (2009)
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
by: Manshadi, Masoumeh Dehghan, et al.
Published: (2017)
by: Manshadi, Masoumeh Dehghan, et al.
Published: (2017)
HFE C282Y/H63D Compound Heterozygotes Are at Low Risk of Hemochromatosis-Related Morbidity
by: Gurrin, L., et al.
Published: (2009)
by: Gurrin, L., et al.
Published: (2009)
A university clinic: an innovative model for improving clinical practice
by: Warner, P., et al.
Published: (2010)
by: Warner, P., et al.
Published: (2010)
Clinical and mutational features of three Chinese children with congenital generalized lipodystrophy
by: Xueying, Su, et al.
Published: (2017)
by: Xueying, Su, et al.
Published: (2017)
Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia
by: Chear, Chai Teng, et al.
Published: (2023)
by: Chear, Chai Teng, et al.
Published: (2023)
Construction of an Attenuated Pasteurella Multocida B:2 by Mutation in the Gdha Gene
by: Othman, Siti Sarah
Published: (2007)
by: Othman, Siti Sarah
Published: (2007)
Similar Items
-
Noncitrus Fruits as Novel Dietary Environmental Modifiers of Iron Stores in People With or Without HFE Gene Mutations
by: Milward, E., et al.
Published: (2008) -
Population-based study of the relationship between mutations in the hemochromatosis (HFE) gene and arthritis
by: Sherrington, C., et al.
Published: (2006) -
Effects of HFE gene mutations and alcohol on iron status, liver biochemistry and morbidity
by: Olynyk, John, et al.
Published: (2011) -
HFE gene polymorphisms in Malays
by: Jatta, Francis
Published: (2020) -
Prevalence, Characteristics, and Prognostic Significance of HFE Gene Mutations in Type 2 Diabetes: The Fremantle Diabetes Study
by: Davis, T., et al.
Published: (2008)