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TITLE: The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes  Full Text
AUTHORS: Ana Rita Lameiras; Ana Claudia Goncalves; Ricardo Santos; Assuncao O'Neill; Luis Roque dos Reis; Tiago Daniel Matos ; Graca Fialho; Helena Caria; Pedro Escada;
PUBLISHED: 2015, SOURCE: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, VOLUME: 79, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
2
TITLE: WFS1 and non-syndromic low-frequency sensorineural hearing loss: A novel mutation in a Portuguese case  Full Text
AUTHORS: Goncalves, AC; Matos, TD ; Simoes Teixeira, HR; Pimenta Machado, MP; Simao, M; Dias, OP; Andrea, M; Fialho, G; Caria, H;
PUBLISHED: 2014, SOURCE: GENE, VOLUME: 538, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
3
TITLE: A novel p.Leu213X mutation in GJB2 gene in a Portuguese family  Full Text
AUTHORS: Ana Claudia Goncalves; Joana Chora; Tiago D Matos ; Ricardo Santos; Assuncao O'Neill; Pedro Escada; Graca Fialho ; Helena Caria ;
PUBLISHED: 2013, SOURCE: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, VOLUME: 77, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
4
TITLE: Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients
AUTHORS: Tiago Daniel Matos ; Helena Simoes Teixeira; Helena Caria ; Ana Claudia Goncalves; Joana Chora; Maria do Ceu Correia; Carla Pinto Moura ; Helena Rosa; Luisa Monteiro; Assuncao O'Neill; Oscar Dias; Mario Andrea ; Graca Fialho ;
PUBLISHED: 2013, SOURCE: INTERNATIONAL JOURNAL OF AUDIOLOGY, VOLUME: 52, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 16
IN MY: ORCID
5
TITLE: Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association   Full Text
AUTHORS: Matos, TD ; Simões-Teixeira, H; Caria, H; Cascão, R; Rosa, H; O'Neill, A; Ó Dias; Andrea, ME; Kelsell, DP; Fialho, G;
PUBLISHED: 2011, SOURCE: Genetics Research International, VOLUME: 2011
INDEXED IN: CrossRef
IN MY: ORCID
6
TITLE: Novel Splice-Site Mutation c.1615-2A > G (IVS14-2A > G) in the SLC26A4 Gene Causing Pendred Syndrome in a Consanguineous Portuguese Family  Full Text
AUTHORS: Helena Simoes Teixeira; Tiago D Matos ; Marta Canas Marques; Oscar Dias; Mario Andrea ; Eduardo Barreiros; Luis Barreiros; Felipe Moreno; Graca Fialho ; Helena Caria ; Ignacio del Castillo;
PUBLISHED: 2011, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 155A, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
7
TITLE: DFNB1-associated deafness in Portuguese cochlear implant users: Prevalence and impact on oral outcome  Full Text
AUTHORS: Joana Rita Gaspar D M de Barros Martinho Chora; Tiago Daniel M Morim Matos ; Jorge Humberto F Ferreira Martins; Marisa Costa Alves; Susana Margarida S Sousa Andrade; Luis Filipe D dos Santos Silva; Carlos Alberto D dos Reis Ribeiro; Marilia Cristina D de Sousa Antunes ; Maria Graca M A Monteiro Azevedo Fialho ; Maria Helena D R de Figueiredo Ramos Caria;
PUBLISHED: 2010, SOURCE: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, VOLUME: 74, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
8
TITLE: The Controversial p.Arg127His Mutation in GJB2: Report on Three Portuguese Hearing Loss Family Cases
AUTHORS: Tiago D Matos ; Helena Simoes Teixeira; Helena Caria ; Helena Rosa; Assuncao O'Neill; Graca Fialho ;
PUBLISHED: 2010, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
9
TITLE: A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss  Full Text
AUTHORS: Matos, TD ; Caria, H ; Simoes Teixeira, H; Aasen, T; Dias, O; Andrea, M ; Kelsell, DP; Fialho, G ;
PUBLISHED: 2008, SOURCE: HEARING RESEARCH, VOLUME: 240, ISSUE: 1-2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
10
TITLE: A novel hearing loss-related mutation occurring in the GJB2 basal promoter
AUTHORS: Matos, TD ; Caria, H ; Simoes Teixeira, H; Aasen, T; Nickel, R; Jagger, DJ; O'Neill, A; Kelsell, DP; Fialho, G ;
PUBLISHED: 2007, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 44, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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