Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Vinicius Pedroso-Campos"'
Autor:
Diego Mariano, Cindy Yukimi Sonoda, Juliana Sampaio-Silva, Osório Abath-Neto, Vinicius Pedroso-Campos, Estefany Uchoa da Silva de Oliveira Longati, Karina Lezirovitz, Ana Carla Batissoco, Ricardo Ferreira Bento, Rafaela Jesus-Santos, Jeanne Oiticica, Ana Cristina Hiromi Hoshino, Gleiciele Alice Vieira-Silva, Robinson Koji Tsuji, Eliete Pardono
Publikováno v:
Human Genetics. 141:519-538
Hearing loss is one of the most common sensory defects, affecting 5.5% of the worldwide population and significantly impacting health and social life. It is mainly attributed to genetic causes, but their relative contribution reflects the geographica
Autor:
Cindy Yukimi Sonoda, João Paulo Kitajima, Ellen Ouyang, Gleiciele Alice Vieira-Silva, Debora Levy, Daniel J. Jagger, Laura Garcia E. Vasconcelos, Roberto Miquelino de Oliveira Beck, Regina Célia Mingroni-Netto, Navid Zebarjadi, Vinícius Magalhães Borges, Juliana Sampaio-Silva, Jeanne Oiticica, Ana Carla Batissoco, Larissa Tiburcio Rodrigues do Nascimento, Vinicius Pedroso-Campos, Ricardo Ferreira Bento, Alix Trouillet, Nicolas Grillet, Karina Lezirovitz, Signe Schuster Grasel
Publikováno v:
Hum Mol Genet
Here we define a ~200 Kb genomic duplication in 2p14 as the genetic signature that segregates with postlingual progressive sensorineural autosomal dominant hearing loss (HL) in 20 affected individuals from the DFNA58 family, first reported in 2009. T