Search Results

1 - 10 of 42
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… smooth muscle cells modulates inflammation following arterial injury in mice. J. Clin. Invest, 120(1):303-14. … Nussbaum RL, Kleta R, Gahl WA, Boehm M. NT5E mutations and arterial calcifications. N. Engl. J. Med, 364(5):432-42. … human induced pluripotent stem cells (hiPSCs), arterial calcification … Manfred Boehm, human vascular diseases, …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or ACDC, as the team … Program (UDP), Undiagnosed Diseases Network (UDN), Arterial Calcification due to Deficiency of CD73 (ACDC) … Dr. …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… different antibodies that are associated with both arterial and venous thrombosis (clots in the arteries and … off foreign substances) that are associated with both arterial and venous thrombosis (clots in the arteries and … the arteries and veins. … Antiphospholipid Syndrome, APS, Arterial Thrombosis, Venous Thrombosis, Clots, Veins, …
File
… Mayo Clinic 19,000; 93.5% EA 6,934 (38% female) Peripheral arterial disease, RBC indices, CHD, VTE, cardio respiratory …
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… early life due to cardiovascular involvement (Generalized Arterial Calcification of Infancy), whereas those who survive the … phenotyping of long-term survivors of Generalized Arterial Calcification of Infancy (GACI) . Genetics in …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… condition is associated with progressive and painful calcification of the arteries in a person's hands and legs, … could provide insights into understanding and treating calcification that frequently occurs in persons with advanced …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… (e.g. hypertension) and phenotypes (e.g. coronary artery calcification) in African-Americans (AA). To examine the … processes of CVD or CVD phenotypes (e.g. coronary artery calcification, microalbuminuria, leukocyte telomeres, or …