Publications by authors named "Tiago D Matos"

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The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.
Ana Rita Lameiras, Ana Cláudia Gonçalves, Ricardo Santos, Assunção O'Neill, Luís Roque Dos Reis, Tiago Daniel Matos

Int J Pediatr Otorhinolaryngol· August 2015

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Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
Tiago Daniel Matos, Helena Simões-Teixeira, Helena Caria, Ana Cláudia Gonçalves, Joana Chora

Int J Audiol· July 2013

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A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.
Ana Cláudia Gonçalves, Joana Chora, Tiago D Matos, Ricardo Santos, Assunção O'Neill

Int J Pediatr Otorhinolaryngol· January 2013

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Two portuguese cochlear implanted dizygotic twins: a case report.
Joana Rita Chora, Helena Simões-Teixeira, Tiago Daniel Matos, Jorge Humberto Martins, Marisa Alves

Case Rep Genet· October 2012

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Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.
Helena Simões-Teixeira, Tiago D Matos, Marta Canas Marques, Oscar Dias, Mário Andrea

Am J Med Genet A· April 2011

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DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome.
Joana Rita Gaspar de Barros Martinho Chora, Tiago Daniel Morim Matos, Jorge Humberto Ferreira Martins, Marisa Costa Alves, Susana Margarida Sousa Andrade

Int J Pediatr Otorhinolaryngol· October 2010

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The controversial p.Arg127His mutation in GJB2: report on three Portuguese hearing loss family cases.
Tiago D Matos, Helena Simões-Teixeira, Helena Caria, Helena Rosa, Assunção O'Neill

Genet Test Mol Biomarkers· February 2010

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