N. Capodicasa
Clinical and molecular findings in an Albanian family with familial adenomatous polyposis
Purpose: Familial adenomatous polyposis is an inherited precancerous condition characterized by multiple colorectal polyps. This brief report describes three generations of a family with a history of colorectal cancer in which genetic testing was useful for detecting individuals at risk. Methods: A next generation sequencing custom gene panel comprising 11 genes ass.. Read More»
Genet. Mol. Res. 16(4): gmr16039823
DOI: 10.4238/gmr16039823
Polymorphism of UGT1A1*28 (TA)7 and liver damage in hepatitis B virus-positive patients in Albania
Hepatitis B virus (HBV) is the infectious agent of both acute and chronic hepatitis. HBV exists in multiple genotypic variants that differ in their capacity to become persistent chronic infections and in their clinical manifestations, including hepatocellular carcinoma. The 8 genotypes (A-H) of HBV show a specific worldwide geographic distribution and are correlated with different disease cours.. Read More»
Genet. Mol. Res. 14(2): 2015.May.18.13
DOI: 10.4238/2015.May.18.13
Genetic tests for low- and middle-income countries: a literature review
The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or middle-income countries, which can be easily identified with simple and affordable methods. Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and tre.. Read More»
Genet. Mol. Res. 16(1): gmr16019466
DOI: 10.4238/gmr16019466
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