Molecular diagnosis of deafness

Molecular Diagnosis of Familial Hypercholesterolemia

Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...

etiology, significance, diagnosis and treatment of bruxiam

چکیده ندارد.

Application of Next Generation Sequencing Upon the Molecular Genetic Diagnosis of Deafness

The main objective of this review is to describe the new sequencing technologies called next generation sequencing (NGS) and its utility as a molecular genetic diagnosis tool in a medical field. Sanger method has dominated the genome sequencing industry for the past 30 years since its invention in 1975. It produced first human genome and still remains the gold standard for genome sequencing. Ho...

Molecular genetics of non - syndromic deafness Summary

Molecular Etiology of Hereditary Single-Side Deafness

Unilateral sensorineural hearing loss (USNHL)/single-side deafness (SSD) is a frequently encountered disability in children. The etiology of a substantial portion of USNHL/SSD still remains unknown, and genetic causes have not been clearly elucidated. In this study, the authors evaluated the heritability of USNHL/SSD.The authors sequentially recruited 50 unrelated children with SSD. For an etio...