Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis
S Boucher, FWJ Tai, S Delmaghani… - Proceedings of the …, 2020 - National Acad Sciences
Presbycusis, or age-related hearing loss (ARHL), is a major public health issue. About half
the phenotypic variance has been attributed to genetic factors. Here, we assessed the …
the phenotypic variance has been attributed to genetic factors. Here, we assessed the …
Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples
Objective To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese
children's community sample and to compare these frequencies with nonsyndromic hearing …
children's community sample and to compare these frequencies with nonsyndromic hearing …
Monogenic mimics of Behçet's Disease
AG Burleigh - 2023 - discovery.ucl.ac.uk
Behçet's Disease (BD) is a rare multisystemic variable vessel vasculitis with a chronic and
relapsing disease course. BD is polygenic, and genome wide association studies in cohorts …
relapsing disease course. BD is polygenic, and genome wide association studies in cohorts …
Estudo da heterogeneidade genética da surdez por sequenciamento de nova geração
AMM Dias - 2018 - teses.usp.br
Surdez e perda auditiva são termos utilizados para designar distúrbios da audição, o tipo de
deficiência sensorial mais frequente em humanos e decorrente de alterações genéticas em …
deficiência sensorial mais frequente em humanos e decorrente de alterações genéticas em …