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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.
Telangiectasia, Hereditary Hemorrhagic
Imperial College Hammersmith Campus
Imperial College London
Published on BioPortfolio: 2014-08-27T03:48:31-0400
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...
This study is a double-blinded, randomized controlled trial to evaluate the efficacy of an intranasal topical timolol gel in the care for epistaxis in adults with hereditary hemorrhagic te...
OBJECTIVES: I. Evaluate migraine prophylaxis with soy protein isolate in patients with hereditary hemorrhagic telangiectasia. II. Assess whether soy protein isolate reduces the frequenc...
Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder of angiogenesis associated with disabling epistaxis. Management of these nose bleedings requires more effective treatment....
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...
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 ...
To report our clinical experience with bevacizumab in a cohort of Hereditary Hemorrhagic Telangiectasia (HHT) patients with severe hepatic involvement and/or refractory anemia.
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.
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...