Maria Helena de Figueiredo Ramos Caria


AuthID: R-000-BJE

Confirmed Publications: 48



31
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 | CIÊNCIAVITAE
32
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 | CIÊNCIAVITAE
33
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 | CIÊNCIAVITAE
34
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 | CIÊNCIAVITAE
35
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 | CIÊNCIAVITAE
36
TITLE: Mitochondrial DNA mutations and deafness in the Portuguese population  Full Text
AUTHORS: Caria, H ; Matos, T; Galhardo, I; Simao, M; O'Neill, A; Dias, O; Andrea, M; Correia, C; Fialho, G;
PUBLISHED: 2002, SOURCE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
INDEXED IN: WOS
IN MY: ORCID | CIÊNCIAVITAE
37
TITLE: Aneuploidy induced in lymphocytes of parents of trisomic 21 children  Full Text
AUTHORS: Caria, H ; Chaveca, T; Rueff, J ;
PUBLISHED: 2001, SOURCE: TERATOGENESIS CARCINOGENESIS AND MUTAGENESIS, VOLUME: 21, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
38
TITLE: ND gene: Mutations found in two Portuguese families.
AUTHORS: Caria, HFR ; Vitorino, M; Mena, A; Galhardo, L; Simao, M; Dias, O; Andrea, M; Correia, C; Fialho, G;
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 69, ISSUE: 4
INDEXED IN: WOS
IN MY: ORCID | CIÊNCIAVITAE
39
TITLE: Dominant deafness in Portuguese families - New mutations in the TECTA gene.
AUTHORS: Camara, J; Vieira, H; Vitorino, M; Mena, A; Caria, H ; Simao, M; Galhardo, I; Netta, T; Dias, O; Andrea, M; Correia, C; Fialho, G;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4
INDEXED IN: WOS
IN MY: ORCID | CIÊNCIAVITAE
40
TITLE: GJB2 gene a novel mutation found in Portuguese deaf families.
AUTHORS: Vieira, H; Vitorino, M; Camara, J; Mena, A; Caria, H ; Simao, M; Galhardo, I; Netta, T; Dias, O; Andrea, M; Correia, C; Fialho, G;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4
INDEXED IN: WOS
IN MY: ORCID | CIÊNCIAVITAE
Page 4 of 5. Total results: 48.

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