Maria Helena de Figueiredo Ramos Caria


AuthID: R-000-BJE

Confirmed Publications: 39



11
TITLE: Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe: The Role of the DFNB1 Locus?
AUTHORS: Caroça, C; De Matos, TM; Ribeiro, D; Lourenço, V; Martins, T; Campelo, P; Fialho, G; Silva, SN; Paço, J; Caria, H ;
PUBLISHED: 2016, SOURCE: OMICS A Journal of Integrative Biology, VOLUME: 20, ISSUE: 8
INDEXED IN: Scopus CrossRef
IN MY: ORCID | CIÊNCIAVITAE
12
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
IN MY: ORCID | CIÊNCIAVITAE
13
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 | CIÊNCIAVITAE
14
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 | CIÊNCIAVITAE
15
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 | CIÊNCIAVITAE
16
TITLE: Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report  Full Text
AUTHORS: Joana Rita Chora; Helena Simões-Teixeira; Tiago Daniel Matos; Jorge Humberto Martins; Marisa Alves; Raquel Ferreira; Luís Silva; Carlos Ribeiro; Graça Fialho; Helena Caria ;
PUBLISHED: 2012, SOURCE: Case Reports in Genetics, VOLUME: 2012
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
17
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 | CIÊNCIAVITAE
18
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 | CIÊNCIAVITAE
19
TITLE: Prevalence of inappropriate urinary catheterization a preventable risk factor [Prevalência da algaliação sem indicação um factor de risco evitável]
AUTHORS: Caramujo, N; Carvalho, M; Caria, H ;
PUBLISHED: 2011, SOURCE: Acta Medica Portuguesa, VOLUME: 24, ISSUE: SUPPL.2
INDEXED IN: Scopus
IN MY: ORCID | CIÊNCIAVITAE
20
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 | CIÊNCIAVITAE
Page 2 of 4. Total results: 39.

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