Maria Helena de Figueiredo Ramos Caria


AuthID: R-000-BJE

Confirmed Publications: 14



1
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
2
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
3
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
4
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
5
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
6
TITLE: Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene  Full Text
AUTHORS: Nele Hilgert; Matthew J Huentelman; Ashley Q Thorburn; Erik Fransen; Nele Dieltjens; Malgorzata Mueller Malesinska; Agnieszka Pollak; Agata Skorka; Jaroslaw Waligora; Rafal Ploski; Pierangela Castorina; Paola Primignani; Umberto Ambrosetti; Alessandra Murgia; Eva Orzan; Arti Pandya; Kathleen Arnos; Virginia Norris; Pavel Seeman; Petr Janousek; Delphine Feldmann; Sandrine Marlin; Francoise Denoyelle; Carla J Nishimura; Andreas Janecke; Doris Nekahm Heis; Alessandro Martini; Elena Mennucci; Timea Toth; Istvan Sziklai; Ignacio del Castillo; Felipe Moreno; Michael B Petersen; Vasiliki Iliadou; Mustafa Tekin; Armagan Incesulu; Ewa Nowakowska; Jerzy Bal; Paul Van de Heyning; Anne Francoise Roux; Catherine Blanchet; Cyril Goizet; Guenaelle Lancelot; Graca Fialho ; Helena Caria ; Xue Zhong Liu; Ouyang Y Xiaomei; Paul Govaerts; Karen Gronskov; Karianne Hostmark; Klemens Frei; Ingeborg Dhooge; Stephen Vlaeminck; Erdmute Kunstmann; Lut Van Laer; Richard J H Smith; Guy Van Camp; ...More
PUBLISHED: 2009, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 17, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
7
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
8
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
9
TITLE: Gene symbol: GJB2.
AUTHORS: Matos, T ; Caria, H ; Teixeira, H; Fialho, G ;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 2
INDEXED IN: Scopus
IN MY: ORCID
10
TITLE: A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma  Full Text
AUTHORS: Caria, H ; Matos, T ; Oliveira Soares, R; Santos, AR; Galhardo, I; Soares Almeida, L; Dias, O ; Andrea, M ; Correia, C; Fialho, G ;
PUBLISHED: 2005, SOURCE: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, VOLUME: 19, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 12
IN MY: ORCID
Page 1 of 2. Total results: 14.

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