Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

Haemochromatosis is predominantly associated with the HFE p.C282Y homozygous genotype, which is present in approximately 1 in 200 people of Northern European origin. However, not all p.C282Y homozygotes develop clinical features of haemochromatosis, and not all p.C282Y homozygotes even present abnor...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy:	Rochette, J, Le Gac, G, Lassoued, K, Férec, C, Robson, K
Format:	Journal article
Język:	English
Wydane:	2010

Podobne zapisy

Clinical haemochromatosis in HFE mutation carriers.
od: Cox, T, i wsp.
Wydane: (2002)

HFE-Associated Hereditary Haemochromatosis
od: Emmeke J Eijkelkamp, i wsp.
Wydane: (2000-01-01)

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
od: Merryweather-Clarke, A, i wsp.
Wydane: (2003)

Identification of new ligands for the haemochromatosis protein HFE
od: Drakesmith, H, i wsp.
Wydane: (2007)

Diagnosis and management of haemochromatosis since the discovery of the HFE gene: A European experience
od: Robson, K, i wsp.
Wydane: (2000)

Kupffer cell staining by an HFE-specific monoclonal antibody: implications for hereditary haemochromatosis.
od: Bastin, J, i wsp.
Wydane: (1998)

Kupffer cell staining by an HFE-specific monoclonal antibody: implications for hereditary haemochromatosis
od: Bastin, J, i wsp.
Wydane: (1998)

Non HFE-related haemochromatosis: exclusion of the 1q21 zinc-iron regulated transporter-like (ZIRTL) gene in juvenile haemochromatosis.
od: Sebastiani, G, i wsp.
Wydane: (2003)

Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease.
od: Robson, K, i wsp.
Wydane: (2004)

Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload.
od: Townsend, A, i wsp.
Wydane: (2002)

Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload
od: Townsend, A, i wsp.
Wydane: (2002)

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis
od: Barton David E, i wsp.
Wydane: (2006-11-01)

Penetrancia familiar del gen HFE: los cuatro hermanos de una familia afectados por hemocromatosis hereditaria Familiar penetrancy of HFE gene: four brothers of the same family affected by hereditary haemochromatosis
od: M. Vázquez Romero, i wsp.
Wydane: (2005-08-01)

Infertility: Consider haemochromatosis?
od: Lok, C, i wsp.
Wydane: (2007)

Recent advances in understanding haemochromatosis: a transition state.
od: Robson, K, i wsp.
Wydane: (2004)

JUVENILE HAEMOCHROMATOSIS MUTATIONS ARE NOT THAT SIMPLE
od: Bignell, P, i wsp.
Wydane: (2013)

Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia
od: Gérald Le Gac, i wsp.
Wydane: (2010-04-01)

Juvenile haemochromatosis in the Bangladeshi community
od: Lok, C, i wsp.
Wydane: (2007)

HFE genotypes, haemochromatosis diagnosis and clinical outcomes at age 80 years: a prospective cohort study in the UK Biobank
od: Luke C Pilling, i wsp.
Wydane: (2024-03-01)

Expression of haemochromatosis-associated genes in the zebrafish
od: Lok, C, i wsp.
Wydane: (2007)

NOVEL GENE DELETIONS RESULT IN HAEMOCHROMATOSIS
od: Bignell, P, i wsp.
Wydane: (2013)

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants
od: Patricia Aguilar-Martinez, i wsp.
Wydane: (2011-04-01)

HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype
od: Gérald Le Gac, i wsp.
Wydane: (2009-01-01)

Geography of HFE C282Y and H63D mutations.
od: Merryweather-Clarke, A, i wsp.
Wydane: (2000)

Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent
od: V. Gérolami, i wsp.
Wydane: (2008-05-01)

The molecular genetics of haemochromatosis
od: Shearman, J, i wsp.
Wydane: (1996)

A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis.
od: Cadet, E, i wsp.
Wydane: (2003)

The role of HFE genotype in macrophage phenotype
od: Anne M. Nixon, i wsp.
Wydane: (2018-02-01)

Impact of <it>HFE </it>genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data
od: Ka Chandran, i wsp.
Wydane: (2005-06-01)

Early biochemical onset juvenile haemochromatosis in 5year-old girl due to a novel combination of hemojuvelin G320V/R176C mutations
od: Aguilar-Martinez, P, i wsp.
Wydane: (2007)

Hereditary haemochromatosis: pilot study of case-finding approach to early diagnosis in primary care.
od: Emery, J, i wsp.
Wydane: (2001)

Normal ZIRTL sequence in juvenile and neonatal haemochromatosis
od: Sebastiani, G, i wsp.
Wydane: (2002)

Genetic testing for haemochromatosis in patients with chondrocalcinosis.
od: Timms, A, i wsp.
Wydane: (2002)

Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis.
od: Stone, C, i wsp.
Wydane: (1994)

Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study
od: Virginie Scotet, i wsp.
Wydane: (2018-02-01)

A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.
od: Pointon, J, i wsp.
Wydane: (2009)

Pilot study of early diagnosis of hereditary haemochromatosis through systematic case finding in primary care.
od: Emery, J, i wsp.
Wydane: (2002)

Hereditary haemochromatosis, haemophagocytic lymphohistiocytosis and COVID-19
od: Matthew J. Riley, i wsp.
Wydane: (2020-10-01)

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
od: Livesey, K, i wsp.
Wydane: (2004)

RECRUITMENT OF PATIENTS WITH HEREDITARY HAEMOCHROMATOSIS AS BLOOD DONORS
od: Marko Cukjati, i wsp.
Wydane: (2004-12-01)