Graça Fialho

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 551 citations · Full text

Genetic Disorder, Genetics, Audiology +9

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Nele Hilgert, Matthew J. Huentelman, Ashley Q. Thorburn et al. · European Journal of Human Genetics · 2008 · 53 citations · Full text

Genetic Analysis, Allelic Variant, Phenotypic Variation +8

A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss

Tiago Matos, Helena Caria, Helena Simões-Teixeira et al. · Hearing Research · 2008 · 29 citations

Novel M163l Mutation, Cell Death, Pathology +6

A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma

Helena Caria, Tiago Matos, Rui Oliveira Soares et al. · Journal of the European Academy of Dermatology and Venereology · 2005 · 28 citations · Full text

DFNB1-associated deafness in Portuguese cochlear implant users: Prevalence and impact on oral outcome

Joana Rita Chora, Tiago Matos, Jorge Humberto Martins et al. · International Journal of Pediatric Otorhinolaryngology · 2010 · 24 citations

Health Sciences, Dfnb1-associated Deafness, Oral Outcome +9