Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Isolated Deafness"'
1
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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2
Isolated deafness in multiple sclerosis patients
Autor: Laura Redondo-Robles, Rocío García-Santiago, María Ángeles García-González, Adrián Arés-Luque, Santiago Fernández-Menéndez
Publikováno v: American Journal of Otolaryngology. 35:810-813
Isolated cranial nerve involvement in multiple sclerosis (MS) patients is not frequent. Deafness is considered to be uncommon in MS patients. We have reviewed the sensorineural hearing loss episodes that had been thoroughly investigated in our hospit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5306f38780aa431987a38502a656fcb
https://doi.org/10.1016/j.amjoto.2014.08.002
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3
Molecular genetics study of deafness in Brazil: 8-year experience
Autor: Andrea Trevas Maciel Guerra, Edi Lúcia Sartorato, Carlos Eduardo Steiner, Fabiana Alexandrino, Camila Andréa de Oliveira, Thalita Vitachi Christiani, José Luiz Rosemberis Cunha
Publikováno v: American Journal of Medical Genetics Part A. :1574-1579
Hereditary hearing loss is a complex disorder that involves a large number of genes. In developed countries, 1 in 1,000 children is born with deafness severe enough to require special education services, and about 60% of the cases of isolated deafnes
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a21394b949fe954bb5c4b0f3ad9f5dd1
https://doi.org/10.1002/ajmg.a.31838
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4
Hearing is normal without connexin30
Autor: Paul Avan, Anne-Cécile Boulay, Martine Cohen-Salmon, Christian Giaume, Ghislaine Hamard, Fabrice Giraudet, Francisco J. del Castillo, Christine Petit
Publikováno v: Journal of Neuroscience
Journal of Neuroscience, 2013, 33 (2), pp.430-434. ⟨10.1523/JNEUROSCI.4240-12.2013⟩
Gjb2andGjb6,two contiguous genes respectively encoding the gap junction protein connexin26 (Cx26) and connexin 30 (Cx30) display overlapping expression in the inner ear. Both have been linked to the most frequent monogenic hearing impairment, the rec
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca94c88d407023b7150bf86d137ab15b
https://pubmed.ncbi.nlm.nih.gov/23303923
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5
Genes responsible for human hereditary deafness: symphony of a thousand
Autor: Christine Petit
Publikováno v: Nature Genetics. 14:385-391
Hearing loss is the most frequent sensory defect in humans. Dozens of genes may be responsible for the early onset forms of isolated deafness and several hundreds of syndromes with hearing loss have been described. Both the difficulties encountered b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8d1e862ebbdd6988c850a5dfdae2ccd
https://doi.org/10.1038/ng1296-385
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6
Chapter 8 Mouse Models for Human Hereditary Deafness
Autor: Christine Petit, Michel Leibovici, Saaid Safieddine
Publikováno v: Mouse Models of Developmental Genetic Disease
Mouse Models of Developmental Genetic Disease, 84, Elsevier, pp.385-429, 2008, Current Topics in Developmental Biology, 978-0-12-374454-8. ⟨10.1016/S0070-2153(08)00608-X⟩
International audience; Hearing impairment is a frequent condition in humans. Identification of the causative genes for the early onset forms of isolated deafness began 15 years ago and has been very fruitful. To date, approximately 50 causative gene
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b56dae5574b780c81a32d31b59a66c87
https://doi.org/10.1016/s0070-2153(08)00608-x
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8
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