Výsledky vyhledávání - "MESH: Deafness"

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

Autor: Imane AitRaise, Ghita Amalou, Amale Bousfiha, Hicham Charoute, Hassan Rouba, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Adbelhamid Barakat

Publikováno v: Molecular Biology Reports
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩

International audience; Background: Deafness is the most prevalent human sensorineural defect. It may occur as a result of an external auditory canal involvement, or a deficiency in the sound conduction mechanism, or an impairment of the cochlea, the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a7013bd19b08c22094a168078bf3c5
https://doi.org/10.1007/s11033-022-07245-z

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Prevalence of Hearing Loss and Hearing Aid Use Among Adults in France in the CONSTANCES Study

Autor: Quentin Lisan, Marcel Goldberg, Ghizlene Lahlou, Anna Ozguler, Sylvie Lemonnier, Xavier Jouven, Marie Zins, Jean-Philippe Empana

Publikováno v: JAMA Network Open
JAMA Network Open, 2022, 5 (6), pp.e2217633. ⟨10.1001/jamanetworkopen.2022.17633⟩

International audience; Importance Although hearing loss is common in the population worldwide, the prevalence of hearing loss and hearing aid use is not known.Objective To estimate the prevalence of hearing loss and hearing aid use in the adult Fren

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d33f5f3b0c369a2ee039eeba800827ed
https://hal.science/hal-03738035

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Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Proc Natl Acad Sci U S A

International audience; Presbycusis, or age-related hearing loss (ARHL), is a major public health issue. About half the phenotypic variance has been attributed to genetic factors. Here, we assessed the contribution to presbycusis of ultrarare pathoge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26bb30ca4931ea88956d1a4bd7843bdb
https://hal-pasteur.archives-ouvertes.fr/pasteur-03215054

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Le problème des enfants « perdus de vue » du dépistage néonatal de la surdité est-il connu des médecins généralistes et pédiatres ?Étude quantitative réalisée auprès des pédiatres et médecins généralistes du Languedoc-Roussillon

Autor: Bouges, François

Publikováno v: Médecine humaine et pathologie. 2020

La surdité est le déficit sensoriel néonatal le plus fréquent. Un dépistage néonatal généralisé en maternité existe depuis 2014. En 2018 dans le Languedoc-Roussillon près de 26 % des enfants suspects de surdité ont été perdus de vue à

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2592::ae9d85dc2b186b8b4544dcd232305c06
https://dumas.ccsd.cnrs.fr/dumas-03157998

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The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions

Autor: Crystel Bonnet, Sonia Talbi, Christine Petit, Mohammed Tahar Mansouri, Farid Boudjenah, Fatima Ammar Khodja

Publikováno v: International Journal of Pediatric Otorhinolaryngology
International Journal of Pediatric Otorhinolaryngology, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩

International audience; Introduction: DFNB1, caused by mutations of GJB2 or GJB6, is the most prevalent genetic form of nonsyndromic (i.e., isolated) congenital deafness in countries located around the Mediterranean Sea. Because some mutations are re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b30a753cbbc743fc44529d1c3e27103
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219629

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Systemic allergic contact dermatitis caused by methyl aminolaevulinate in a patient with keratosis-ichthyosis-deafness syndrome

Autor: Aysha, Al Malki, Marie-Claude, Marguery, Françoise, Giordano-Labadie, Maria P, Konstantinou, Lorraine, Mokeddem, Laurence, Lamant, Carle, Paul, Aude, Maza, Juliette, Mazereeuw-Hautier

Publikováno v: Contact Dermatitis
Contact Dermatitis, Wiley, 2017, 76 (3), pp.190-192. ⟨10.1111/cod.12703⟩

International audience; Photodynamic therapy (PDT) is used for the treatment ofnon-melanoma skin cancers. A photosensitizer [amino-laevulinic acid (ALA) or methyl aminolaevulinate (MAL)]is applied to the skin and activated by light to producecytotoxi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2f4f4402d9918a0f99f3693decdc5cad
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03516704

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A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family

Autor: Christine Petit, Lamiae Elkhattabi, Sara Salime, Crystel Bonnet, Soukaina Elrharchi, Abdelhamid Barakat, Zied Riahi, Hassan Rouba, Halima Nahili, Hicham Charoute, Mostafa Kabine

Publikováno v: Gene
Gene, Elsevier, 2018, 659, pp.89-92. ⟨10.1016/j.gene.2018.03.042⟩
Gene, 2018, 659, pp.89-92. ⟨10.1016/j.gene.2018.03.042⟩

International audience; Deafness and myopia syndrome is characterized by moderate-profound, bilateral, congenital or prelingual deafness and high myopia. Autosomal recessive non-syndromic hearing loss is one of the most prevalent human genetic sensor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::697ee06e1350e8869b35a2cd55a4a82e
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219641

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Letter to the Editor: Maternally Inherited Diabetes and Deafness is Not Only Biorgan but Multiorgan

Autor: Josef Finsterer, Sinda Zarrouk-Mahjoub

Publikováno v: Acta Médica Portuguesa
Acta Médica Portuguesa, Ordem dos Médicos, 2017, 30 (9), pp.665-666. ⟨10.20344/amp.9716⟩
Acta Médica Portuguesa, Vol 30, Iss 9, Pp 665-666 (2017)

Comment on: Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G. [Acta Med Port. 2017]; International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c53eb36f83a3b45fe20a2f6593efa0fd
https://hal-riip.archives-ouvertes.fr/pasteur-02055677/document

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Action video game players and deaf observers have larger Goldmann visual fields

Autor: Charlotte Codina, Olivier Pascalis, David Buckley, Palvi Bhardwaj

Publikováno v: Vision Research
Vision Research, Elsevier, 2010, 50 (5), pp.548-56. ⟨10.1016/j.visres.2009.11.018⟩

International audience; We used Goldmann kinetic perimetry to compare how training and congenital auditory deprivation may affect the size of the visual field. We measured the ability of action video game players and deaf observers to detect small mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b32e222fb53484c7afb2d68a1b365991

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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Autor: Im, Kate M., Kirchhoff, Tomas, Wang, Xianshu, Green, Todd, Chow, Clement Y., Vijai, Joseph, Korn, Joshua, Gaudet, Mia M., Fredericksen, Zachary, Pankratz, V. Shane, Guiducci, Candace, Crenshaw, Andrew, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Mai, Phuong L., Greene, Mark H., Piedmonte, Marion, Rubinstein, Wendy S., Hogervorst, Frans B. L., Rookus, Matti A., Collee, Margriet J., Hoogerbrugge, Nicoline, van Asperen, Christi J., Meijers-Heijboer, Hanne E. J., van Roozendaal, Cees E., Caldes, Trinidad, Perez Segura, Pedro, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Blecharz, Pawel, Nevanlinna, Heli, Aittomaki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Barkardottir, Rosa B., Montagna, Marco, D'Andrea, Emma, Devilee, Peter, Olopade, Olufunmilayo I., Neuhausen, Susan L., Peissel, Bernard, Bonanni, Bernardo, Peterlongo, Paolo, Singer, Christian F., Rennert, Gad, Lejbkowicz, Flavio, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda Ewart, Caligo, Maria Adelaide, Beattie, Mary S., Chan, Salina B., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Phelan, Catherine M., Narod, Steven A., John, Esther M., Hopper, John L., Buys, Saundra, Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Duran, Mercedes, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Platte, Radka, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Paterson, Joan, Brewer, Carole, Hodgson, Shirley V., Morrison, Patrick J., Porteous, Mary E., Walker, Lisa, Rogers, Mark T., Side, Lucy E., Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Laitman, Yael, Meindl, Alfons, Deissler, Helmut, Varon-Mateeva, Raymonda, Preisler-Adams, Sabine, Kast, Karin, Venat-Bouvet, Laurence, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F., Klein, Robert J., Daly, Mark J., Friedman, Eitan, Dean, Michael, Clark, Andrew G., Altshuler, David M., Antoniou, Antonis C., Couch, Fergus J., Offit, Kenneth, Gomez Garcia, Encarna, Blok, Marinus, Gold, Bert

Publikováno v: Human Genetics
Human Genetics, Springer Verlag, 2011, 130 (5), pp.685-99. 〈10.1007/s00439-011-1003-z〉
Human Genetics, Springer Verlag, 2011, 130 (5), pp.685-99. ⟨10.1007/s00439-011-1003-z⟩
Human Genetics, 130(5), 685-699. Springer
Im, K M, Kirchhoff, T, Wang, X S, Green, T, Chow, C Y, Vijai, J, Korn, J, Gaudet, M M, Fredericksen, Z, Pankratz, V S, Guiducci, C, Crenshaw, A, McGuffog, L, Kartsonaki, C, Morrison, J, Healey, S, Sinilnikova, O M, Mai, P L, Greene, M H, Piedmonte, M, Rubinstein, W S, Hogervorst, FB, Rookus, M A, Collee, J M, Hoogerbrugge, N, van Asperen, C J, Meijers-Heijboer, E J, van Roozendaal, C E, Caldes, T, Perez-Segura, P, Jakubowska, A, Lubinski, J, Huzarski, T, Blecharz, P, Nevanlinna, H, Aittomaki, K, Lazaro, C, Blanco, I, Barkardottir, R B, Montagna, M, D'Andrea, E, Devilee, P, Olopade, O I, Neuhausen, S L, Peissel, B, Bonanni, B, Peterlongo, P, Singer, C F, Rennert, G, Lejbkowicz, F, Andrulis, I L, Glendon, G, Ozcelik, H, Toland, A E, Caligo, M A, Beattie, M S, Chan, S, Domchek, S M, Nathanson, K L, Rebbeck, T R, Phelan, C, Narod, S, John, E M, Hopper, J L, Buys, S S, Daly, M B, Southey, M C, Terry, M B, Tung, N, Hansen, T V O, Osorio, A, Benitez, J, Duran, M, Weitzel, J N, Garber, J, Hamann, U, Peock, S, Cook, M, Oliver, C T, Frost, D, Platte, R, Evans, D G, Eeles, R, Izatt, L, Paterson, J, Brewer, C, Hodgson, S, Morrison, P J, Porteous, M, Walker, L, Rogers, M T, Side, L E, Godwin, A K, Schmutzler, R K, Wappenschmidt, B, Laitman, Y, Meindl, A, Deissler, H & Varon-Mateeva, R 2011, ' Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers ', Human Genetics, vol. 130, no. 5, pp. 685-699 . https://doi.org/10.1007/s00439-011-1003-z
Human Genetics, 130, 685-99
Human genetics, 130(5), 685-699. Springer Verlag
Recercat. Dipósit de la Recerca de Catalunya
instname
Digital.CSIC. Repositorio Institucional del CSIC
Human Genetics, 130(5), 685-699. Springer-Verlag
Dipòsit Digital de la UB
Universidad de Barcelona
Human Genetics, 130(5), 685-699
Human Genetics, 130(5), 685-699. Springer Verlag
Human Genetics, 130, 5, pp. 685-99

Three founder mutations in BRCA1 and BRCA2 contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at increased frequency in the AJ compared to other BRCA mutations in Caucasian non-Jews (CNJ). Several

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b76209a3052a1556a0f6f989a4c88d4
https://hal.archives-ouvertes.fr/hal-00837832

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