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Your search keyword '"Tamara Sarkisian"' showing total 2 results
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2 results on '"Tamara Sarkisian"'

1. PW01-034 – Clinical-genetic investigation of FMF in Armenia

Author

A Yeghiazaryan, H Hayrapetyan, G Amaryan, and Tamara Sarkisian

Subjects
medicine.medical_specialty, Pediatrics, medicine.diagnostic_test, business.industry, Public health, Primary health care, Familial Mediterranean fever, medicine.disease, Rheumatology, Pediatrics, Perinatology and Child Health, Cohort, Meeting Abstract, Clinical genetic, Medicine, Medical genetics, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, business, Genetic testing
Abstract

Familial Mediterranean Fever (FMF) is the most common hereditary disorder among Armenians. The establishment of clinical and genetic testing of FMF in the Center of Medical Genetics and Primary Health Care (CMG) was mostly forced by the high social and public health problems concerning a huge cohort of patients.

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2. PW01-032 – FMF-like state: genetic factors unrelated to MEFV

Author

Hasmik Hayrapetyan, D Babikyan, Tamara Sarkisian, I Jéru, Serge Amselem, and Bruno Copin

Subjects
Genetics, Pediatrics, medicine.medical_specialty, business.industry, Disease, Autoinflammatory Syndrome, MEFV, Phenotype, Penetrance, Carrier rate, Mutation Carrier, Rheumatology, Meeting Abstract, Pediatrics, Perinatology and Child Health, Medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, business, Heterozygous mutation
Abstract

FMF is considered an autosomal recessive autoinflammatory syndrome caused by single gene (MEFV) mutations. Recently, it has been known that also heterozygous mutation carriers can suffer from a mild or incomplete form of FMF, named FMF-like disease. Among Armenians, who have relatively high carrier rate of MEFV mutations, single mutation has been detected in about 1/5 of symptomatic cases. Thus, one cannot exclude the influence of other modifier genes and/or environmental factors which can contribute to the variable penetrance and to the phenotypic variability of FMF-like disease.

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