Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Hearing Loss/genetics"'
Akademický článek
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Autor:
Fries, S., Unger, S., Cina, V., Strom, A., Paoloni-Giacobino, A., Simon, C., Senn, P., Cao Van, H.
Publikováno v:
Revue medicale suisse, vol. 18, no. 798, pp. 1855-1859
Hearing loss is the most frequent sensory deficit at birth. Newborn hearing screening helps with early identification and clinical management of hearing deficits. A cochlear implantation is advised for profound hearing loss. Previously, an etiologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1900::c4494404fffeaad0c6688dee26cfb8d8
https://serval.unil.ch/notice/serval:BIB_8045358AE7CC
https://serval.unil.ch/notice/serval:BIB_8045358AE7CC
Autor:
Cara, Barnett Lorraine
Background: In the US, 2-3/1,000 children are born with hearing loss (HL). Accordingly, in 1993 newborn hearing screening (NHS) became a NIH initiative. In 50-60% of HL cases, the etiology is genetic, making a genetic evaluation a key component of th
Autor:
Vibeke Secher Dam, Ebbe Boedtkjer, Donald J. Noble, Sandra M. Garraway, Seongho Bae, Christian Aalkjaer, Kristian Beedholm, Inyeong Choi
Publikováno v:
Choi, I, Beedholm, K, Dam, V S, Bae, S-H, Noble, D J, Garraway, S M, Aalkjær, C & Boedtkjer, E 2021, ' Sodium bicarbonate cotransporter NBCn1/Slc4a7 affects locomotor activity and hearing in mice ', Behavioural Brain Research, vol. 401, 113065 . https://doi.org/10.1016/j.bbr.2020.113065
Despite a widespread expression pattern in the central nervous system, the role of the sodium bicarbonate cotransporter NBCn1/Slc4a7 has not been investigated for locomotor activity, emotion and cognition. Here, we addressed the behavioral consequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7bcf248dd199b10bbffa61b3e626d1e
https://pubmed.ncbi.nlm.nih.gov/33321164
https://pubmed.ncbi.nlm.nih.gov/33321164
Akademický článek
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Publikováno v:
Ravn, K, Neland, M, Wibrand, F, Duno, M & Ostergaard, E 2016, ' Hearing impairment and renal failure associated with RMND1 mutations ', American Journal of Medical Genetics. Part A, vol. 170, no. 1, pp. 142–147 . https://doi.org/10.1002/ajmg.a.37399
Recently, two research groups reported that mutations in RMND1 were associated with encephalopathy, elevated lactate, hypotonia, and in some patients seizures or myoclonia in individuals from two consanguineous families. A combined respiratory chain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c63f8441ad163cdb252cda39753a8c47
https://pubmed.ncbi.nlm.nih.gov/26395190
https://pubmed.ncbi.nlm.nih.gov/26395190
Autor:
Mario Pirastu, Ginevra Biino, Ozren Polasek, Laura Portas, Igor Rudan, Marina Ciullo, Sheila Ulivi, Nicola Pirastu, Paolo Gasparini, Giorgia Girotto, Nicholas D. Hastie, Rossella Sorice, Alan F. Wright, Teresa Nutile, Harry Campbell, Adamo Pio d'Adamo, Caroline Hayward, Tatijana Zemunik
Publikováno v:
Journal of medical genetics
48 (2011): 369–374. doi:10.1136/jmg.2010.088310
info:cnr-pdr/source/autori:Girotto G, Pirastu N, Sorice R, Biino G, Campbell H, d'Adamo AP, Hastie ND, Nutile T, Polasek O, Portas L, Rudan I, Ulivi S, Zemunik T, Wright AF, Ciullo M, Hayward C, Pirastu M, Gasparini P./titolo:Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways./doi:10.1136%2Fjmg.2010.088310/rivista:Journal of medical genetics (Print)/anno:2011/pagina_da:369/pagina_a:374/intervallo_pagine:369–374/volume:48
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.369. ⟨10.1136/jmg.2010.088310⟩
48 (2011): 369–374. doi:10.1136/jmg.2010.088310
info:cnr-pdr/source/autori:Girotto G, Pirastu N, Sorice R, Biino G, Campbell H, d'Adamo AP, Hastie ND, Nutile T, Polasek O, Portas L, Rudan I, Ulivi S, Zemunik T, Wright AF, Ciullo M, Hayward C, Pirastu M, Gasparini P./titolo:Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways./doi:10.1136%2Fjmg.2010.088310/rivista:Journal of medical genetics (Print)/anno:2011/pagina_da:369/pagina_a:374/intervallo_pagine:369–374/volume:48
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.369. ⟨10.1136/jmg.2010.088310⟩
BACKGROUND: Hearing is a complex trait, but until now only a few genes are known to contribute to variability of this process. In order to discover genes and pathways that underlie auditory function, a genome-wide association study was carried out wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6699d351494c8e9151d42a5145398c7
http://hdl.handle.net/11368/2489175
http://hdl.handle.net/11368/2489175
Autor:
Etienne Brissaud, Dominique Bonneau, Antoine Layet, Cecilia Marelli, Alexandra Durr, Pascal Reynier, Valérie Layet, Giovanni Stevanin, Alexis Brice, Patrizia Amati-Bonneau
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2010, 134 (Pt 4), pp.e169-e170. ⟨10.1093/brain/awq306⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2010, 134 (Pt 4), pp.e169-e170. ⟨10.1093/brain/awq306⟩
ARTICLE Sir, We read with interest the paper by Yu-Wai-Man et al. (2010) on patients with dominant optic atrophy-plus with OPA1 mutations, which follows on previous reports by the same group (Amati-Bonneau et al. , 2008; Hudson et al. , 2008), report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44399946f2f0aa58310970c8d51942c2
https://hal.univ-angers.fr/hal-03419101
https://hal.univ-angers.fr/hal-03419101
Autor:
Pio D'Adamo, Domenico Leonardo Grasso, Diego Dolcetta, Annamaria Franzè, Cristina Zadro, Marina Ciullo, Teresa Nutile, Gilberto Andrighetto, Paolo Gasparini, Elio Marciano, Elisa Bedin, Uros Hladnik, Maria Graziella Persico, Pasquale Riccardi
Publikováno v:
International journal of audiology (Online) 48 (2009): 531–538. doi:10.1080/14992020902822039
info:cnr-pdr/source/autori:Bedin E.; Franzè A.; Zadro C.; Persico M.G.; Ciullo M.; Hladnik U.; Dolcetta D.; Grasso D.L.; Riccardi P.; Nutile T.; Andrighetto G.; D'Adamo P.; Gasparini P.; Marciano E./titolo:Age-related hearing loss in four Italian genetic isolates: an epidemiological study/doi:10.1080%2F14992020902822039/rivista:International journal of audiology (Online)/anno:2009/pagina_da:531/pagina_a:538/intervallo_pagine:531–538/volume:48
info:cnr-pdr/source/autori:Bedin E.; Franzè A.; Zadro C.; Persico M.G.; Ciullo M.; Hladnik U.; Dolcetta D.; Grasso D.L.; Riccardi P.; Nutile T.; Andrighetto G.; D'Adamo P.; Gasparini P.; Marciano E./titolo:Age-related hearing loss in four Italian genetic isolates: an epidemiological study/doi:10.1080%2F14992020902822039/rivista:International journal of audiology (Online)/anno:2009/pagina_da:531/pagina_a:538/intervallo_pagine:531–538/volume:48
The objective of this study was to estimate the prevalence Of hearing impairment ill four genetically isolated Italian villages (Carlantino, Campora, Gioi-Cardile, and Stoccareddo), 1682 subjects were recruited from all the individuals participating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c262ac817fc5a3d0b1e2e21ae34f2a7
http://hdl.handle.net/11588/371175
http://hdl.handle.net/11588/371175