Genetic testing for haemochromatosis in patients with chondrocalcinosis.

Genetic testing for haemochromatosis in patients with chondrocalcinosis.

Hereditary haemochromatosis (HH) is the most common lethal monogenic human disease, affecting roughly 1 in 300 white northern Europeans. Homozygosity for the C282Y polymorphism within the HFE gene causes more than 80% of cases, with compound heterozygosity of the C282Y and H63D polymorphism also inc...

書目詳細資料
Main Authors:	Timms, A, Sathananthan, R, Bradbury, L, Athanasou, N, Wordsworth, B, Brown, M
格式:	Journal article
語言:	English
出版:	2002

相似書籍

Genetic testing for haemochromatosis in patients with chondrocalcinosis (vol 61, pg 745, 2002)
由: Timms, A, et al.
出版: (2003)

Genetics of chondrocalcinosis and related disorders
由: Brown, M, et al.
出版: (2003)

Lack of genetic association of the ENPP1 and TNAP genes with chondrocalcinosis
由: Zhang, Y, et al.
出版: (2006)

Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis.
由: Zhang, Y, et al.
出版: (2007)

The molecular genetics of haemochromatosis
由: Shearman, J, et al.
出版: (1996)

Epidemiology of gout and chondrocalcinosis
由: M. Govoni, et al.
出版: (2012-01-01)

Diffuse articular chondrocalcinosis
由: Ana Luisa Vanalle Ferrari, et al.
出版: (2008-03-01)

Infertility: Consider haemochromatosis?
由: Lok, C, et al.
出版: (2007)

CLINICAL AND RADIOGRAPHIC FINDINGS IN PATIENTS WITH CHONDROCALCINOSIS
由: Paulina Vele, et al.
出版: (2018-06-01)

GAIN OF FUNCTION ANKH VARIANTS CAUSE BOTH FAMILIAL AND SPORADIC CALCIUM PYROPHOSPHATE DIHYDRATE CHONDROCALCINOSIS
由: Zhang, Y, et al.
出版: (2004)

Chondrocalcinosis (Pseudogout) of the Temporomandibular Joint
由: P. Tvrdý, et al.
出版: (2013-12-01)

Public health aspects of genetic screening for hereditary haemochromatosis in Australia
由: Dorota M. Gertig, et al.
出版: (2002-12-01)

Bone status and aortic calcifications in chondrocalcinosis patients
由: Vele Paulina, et al.
出版: (2020-04-01)

HFE-Associated Hereditary Haemochromatosis
由: Emmeke J Eijkelkamp, et al.
出版: (2000-01-01)

Juvenile haemochromatosis in the Bangladeshi community
由: Lok, C, et al.
出版: (2007)

JUVENILE HAEMOCHROMATOSIS MUTATIONS ARE NOT THAT SIMPLE
由: Bignell, P, et al.
出版: (2013)

Chondrocalcinosis and medial unicompartmental knee arthroplasty
由: Woods, D, et al.
出版: (1995)

Expression of haemochromatosis-associated genes in the zebrafish
由: Lok, C, et al.
出版: (2007)

NOVEL GENE DELETIONS RESULT IN HAEMOCHROMATOSIS
由: Bignell, P, et al.
出版: (2013)

Genetic mutations, diagnostic methods, and therapies related to hereditary haemochromatosis
由: Karina Marini Aguiar, et al.
出版: (2014-03-01)

RECRUITMENT OF PATIENTS WITH HEREDITARY HAEMOCHROMATOSIS AS BLOOD DONORS
由: Marko Cukjati, et al.
出版: (2004-12-01)

ANKH mutations cause both familial and sporadic calcium pyrophosphate dihydrate chondrocalcinosis and increase ANKH transcription/2 translation.
由: Zhang, Y, et al.
出版: (2004)

Clinical haemochromatosis in HFE mutation carriers.
由: Cox, T, et al.
出版: (2002)

Condrocalcinose articular familiar Familial articular chondrocalcinosis
由: Mittermayer Barreto Santiago, et al.
出版: (2004-08-01)

The Association of Diuretics and Proton Pump Inhibitors With Chondrocalcinosis
由: David T. Felson, et al.
出版: (2021-06-01)

Gitelman syndrome associated with chondrocalcinosis: description of two cases
由: E. Filippucci, et al.
出版: (2011-06-01)

Linkage of chondrocalcinosis to chromosome 5p15.1-.2 in a large Argentinean pedigree.
由: Williams, C, et al.
出版: (1997)

Prevalence of Chondrocalcinosis in Patients above 50 Years and the Relationship with Osteoarthritis
由: Hadi Karimzadeh, et al.
出版: (2017-01-01)

Identification of new ligands for the haemochromatosis protein HFE
由: Drakesmith, H, et al.
出版: (2007)

Primary Terminal Haemochromatosis in a 50 Year-Old Patient
由: M. I. Gonik, et al.
出版: (2021-04-01)

Normal ZIRTL sequence in juvenile and neonatal haemochromatosis
由: Sebastiani, G, et al.
出版: (2002)

Fine-mapping of the IL-1 gene cluster pinpoints genetic associations with ankylosing spondylitis.
由: Sims, A, et al.
出版: (2005)

Hereditary haemochromatosis, haemophagocytic lymphohistiocytosis and COVID-19
由: Matthew J. Riley, et al.
出版: (2020-10-01)

Some historical remarks on microcrystalline arthritis (gout and chondrocalcinosis)
由: G. Pasero, et al.
出版: (2012-01-01)

Non HFE-related haemochromatosis: exclusion of the 1q21 zinc-iron regulated transporter-like (ZIRTL) gene in juvenile haemochromatosis.
由: Sebastiani, G, et al.
出版: (2003)

Haemochromatosis patients' research priorities: Towards an improved quality of life
由: Lídia Romero‐Cortadellas, et al.
出版: (2023-12-01)

Effectiveness and Safety of Infliximab in Two Cases of Severe Chondrocalcinosis: Nine Years of Follow-Up
由: Jácome Bruges-Armas, et al.
出版: (2014-01-01)

Inorganic pyrophosphate in plasma, urine, and synovial fluid of patients with pyrophosphate arthropathy (chondrocalcinosis or pseudogout).
由: Russell, R, et al.
出版: (1970)

Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate.
由: Zhang, Y, et al.
出版: (2005)

Recent advances in understanding haemochromatosis: a transition state.
由: Robson, K, et al.
出版: (2004)