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Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

2014-08-27 03:48:31 | BioPortfolio

Summary

Hereditary haemorrhagic telangiectasia is a disease inherited as an autosomal dominant disease. Analysing DNA from affected and unaffected family members allows us to identify the location of disease genes by linkage analysis. Sequencing genes in the interval identified by linkage analysis allows us to identify which precise gene is mutated. Further functional studies can then determine why the mutations in that gene cause the disease.

Study Design

N/A

Conditions

Telangiectasia, Hereditary Hemorrhagic

Location

Imperial College Hammersmith Campus
London
United Kingdom
W12 0NN

Status

Recruiting

Source

Imperial College London

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:48:31-0400

Clinical Trials [380 Associated Clinical Trials listed on BioPortfolio]

Pazopanib for the Treatment of Epistaxis in Hereditary Hemorrhagic Telangiectasia

Investigators will test the value of very low dose Pazopanib administered to patients with hereditary hemorrhagic telangiectasia for the reduction in the severity of nose bleeds in those w...

Timolol Gel for Epistaxis in Hereditary Hemorrhagic Telangiectasia

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Propranolol for Epistaxis in Hereditary Hemorrhagic Telangiectasia Patients

Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder of angiogenesis associated with disabling epistaxis. Management of these nose bleedings requires more effective treatment....

Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients

OBJECTIVES: I. Collect data regarding the natural history of hereditary hemorrhagic telangiectasia (HHT). II. Establish genotype-phenotype correlations in HHT. III. Create a database o...

PubMed Articles [795 Associated PubMed Articles listed on BioPortfolio]

A Case of Ruptured Cerebral Arteriovenous Malformation Associated with Hereditary Hemorrhagic Telangiectasia.

Patients with hereditary hemorrhagic telangiectasia(HHT)are known to have high rates of cerebral arteriovenous malformations(AVMs). Compared to patients with sporadic AVMs, patients with HHT are less ...

Bevacizumab for treating Hereditary Hemorrhagic Telangiectasia patients with severe hepatic involvement or refractory anemia.

To report our clinical experience with bevacizumab in a cohort of Hereditary Hemorrhagic Telangiectasia (HHT) patients with severe hepatic involvement and/or refractory anemia.

Hereditary Hemorrhagic Telangiectasia.

Highlights of the 13th International Hereditary Hemorrhagic Telangiectasia Scientific conference.

Hemobilia and cholangitis in hereditary hemorrhagic telangiectasia.

Medical and Biotech [MESH] Definitions

An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.

A membrane glycoprotein and ANGIOGENESIS FACTOR that is expressed by cells of the VASCULAR ENDOTHELIUM; VASCULAR SMOOTH MUSCLE; and MONOCYTES. It functions as a co-receptor for TRANSFORMING GROWTH FACTOR BETA and modulates CELL ADHESION. Mutations in the endoglin gene are associated with cases of HEREDITARY HEMORRHAGIC TELANGIECTASIA.

A group of viral diseases of diverse etiology but having many similar clinical characteristics; increased capillary permeability, leukopenia, and thrombocytopenia are common to all. Hemorrhagic fevers are characterized by sudden onset, fever, headache, generalized myalgia, backache, conjunctivitis, and severe prostration, followed by various hemorrhagic symptoms. Hemorrhagic fever with kidney involvement is HEMORRHAGIC FEVER WITH RENAL SYNDROME.

A species in the genus LAGOVIRUS which causes hemorrhagic disease, including hemorrhagic septicemia, in rabbits.

Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.

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