Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Graça Fialho"'
Autor:
Laurence Jonard, Davide Brotto, Miguel A. Moreno-Pelayo, Ignacio del Castillo, Hannie Kremer, Ronald Pennings, Helena Caria, Graça Fialho, An Boudewyns, Guy Van Camp, Monika Ołdak, Dominika Oziębło, Naïma Deggouj, Romolo Daniele De Siati, Paolo Gasparini, Giorgia Girotto, Margriet Verstreken, Silvia Dossena, Sebastian Roesch, Saba Battelino, Katarina Trebušak Podkrajšek, Athanasia Warnecke, Thomas Lenarz, Anke Lesinski-Schiedat, Michel Mondain, Anne-Françoise Roux, Françoise Denoyelle, Natalie Loundon, Margaux Serey Gaut, Patrizia Trevisi, Elisa Rubinato, Alessandro Martini, Sandrine Marlin
Publikováno v:
Audiology Research, Vol 13, Iss 3, Pp 341-346 (2023)
The cause of childhood hearing impairment (excluding infectious pathology of the middle ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma, etc [...]
Externí odkaz:
https://doaj.org/article/1f272fa0e4ba4f1d9885851b72d3604b
Autor:
Haúla F. Haider, Sara F. Ribeiro, Derek J. Hoare, Graça Fialho, Deborah A. Hall, Marília Antunes, Helena Caria, João Paço
Publikováno v:
Brain Sciences, Vol 11, Iss 7, p 953 (2021)
Tinnitus is the perception of a sound without an external source, often associated with adverse psychological and emotional effects leading to impaired quality of life (QoL). The present study investigated QoL and psychological distress in tinnitus p
Externí odkaz:
https://doaj.org/article/83bd31e19c5d4fd98c7b178ba3fe9333
Autor:
Haúla F. Haider, Marisa Flook, Mariana Aparicio, Diogo Ribeiro, Marilia Antunes, Agnieszka J. Szczepek, Derek J. Hoare, Graça Fialho, João C. Paço, Helena Caria
Publikováno v:
Frontiers in Aging Neuroscience, Vol 9 (2017)
Introduction: Presbycusis or age-related hearing loss (ARHL) is a ubiquitous health problem. It is estimated that it will affect up to 1.5 billion people by 2025. In addition, tinnitus occurs in a large majority of cases with presbycusis. Glutamate m
Externí odkaz:
https://doaj.org/article/2ee2d47e70c14c24b18cce6831eae4a9
Autor:
Joana Rita Chora, Helena Simões-Teixeira, Tiago Daniel Matos, Jorge Humberto Martins, Marisa Alves, Raquel Ferreira, Luís Silva, Carlos Ribeiro, Graça Fialho, Helena Caria
Publikováno v:
Case Reports in Genetics, Vol 2012 (2012)
Individual’s hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the case of dizygotic twins, boy and
Externí odkaz:
https://doaj.org/article/2feaf6e147924df5b85130b8d759d4d2
Autor:
Derek J. Hoare, Sara F. Ribeiro, Helena Caria, Haúla Haider, Deborah A. Hall, Graça Fialho, João Paço, Marília Antunes
Publikováno v:
Brain Sciences
Volume 11
Issue 7
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Brain Sciences, Vol 11, Iss 953, p 953 (2021)
Volume 11
Issue 7
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Brain Sciences, Vol 11, Iss 953, p 953 (2021)
Funding Information: Acknowledgments: H.H. has received a PhD Grant from J Mello Saude. The present publication was funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020). D.J.H. are funded by the National Inst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::871df4582951081e01a2809d844e3bc5
https://hdl.handle.net/10362/124965
https://hdl.handle.net/10362/124965
Publikováno v:
Acta Otorhinolaryngologica Italica. 36:233-238
La sindrome di Pendred è, in ordine di frequenza, la seconda causa di ipoacusia su base genetica autosomica recessiva. Si manifesta con un ipoacusia accompagnata dalla presenza di un gozzo tiroideo con eventuale ipotiroidismo. Tali caratteristiche s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59c4900886d22f3b8fbdbda04a36c008
https://doi.org/10.14639/0392-100x-889
https://doi.org/10.14639/0392-100x-889
Autor:
Assunção O’Neill, Ana Rita Lameiras, Tiago D. Matos, Pedro Escada, Luis Roque Reis, Helena Caria, Ricardo Santos, Ana Gonçalves, Graça Fialho
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 79:1316-1319
Introduction Recent advances in molecular genetics have increased the identification of genes and mutations responsible for inherited forms of hearing loss (HL), enabling early detection of these cases. Approximately, 60% of early-onset HL cases are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bee3cb7cac8d556881c63511978ea8d
https://doi.org/10.1016/j.ijporl.2015.05.041
https://doi.org/10.1016/j.ijporl.2015.05.041
Autor:
M. Pimenta Machado, Tiago D. Matos, Óscar Dias, Ana Gonçalves, Helena Caria, Helena Simões-Teixeira, Mário Andrea, Graça Fialho, Marco Alveirinho Simão
Publikováno v:
Gene. 538:288-291
Low-frequency sensorineural hearing loss (LFSNHL) is an unusual type of HL in which frequencies at 2,000 Hz and below are predominantly affected. Most of the families with LFSNHL carry missense mutations in WFS1 gene, coding for wolframin. A Portugue
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f137bf4af0972424fec478be947155f
https://doi.org/10.1016/j.gene.2014.01.040
https://doi.org/10.1016/j.gene.2014.01.040
Autor:
Diogo Ribeiro, Susana N. Silva, Cristina Caroça, Paula Campelo, Graça Fialho, João Paço, Tiago Morim de Matos, Tânia Soares Martins, Helena Caria, Vera Martins Lourenço
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Hearing loss (HL) is a common condition with both genetic and environmental causes, and it greatly impacts global health. The prevalence of HL is reportedly higher in developing countries such as the Sub-Saharan African island of Sao Tome and Princip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b38ca3a51ac1480b06c09005723fd9e
https://hdl.handle.net/10400.26/16561
https://hdl.handle.net/10400.26/16561
Autor:
Luis Barreiros, Eduardo Barreiros, Mário Andrea, Graça Fialho, Tiago D. Matos, Felipe Moreno, Marta Canas Marques, Óscar Dias, Ignacio del Castillo, Helena Caria, Helena Simões-Teixeira
Publikováno v:
American Journal of Medical Genetics Part A. 155:924-927
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f5af1f5dcb7e2568107074e47c4fcca
https://doi.org/10.1002/ajmg.a.33740
https://doi.org/10.1002/ajmg.a.33740