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1-5 of 5
Keywords: Connexin 26
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Journal Articles
Mefloquine-Induced Inner Ear Damage and Preventive Effects of Electrical Stimulation: An Electrophysiological Study
Available to Purchase
Journal:
Audiology and Neurotology
Audiol Neurotol (2024) 29 (2): 88–95.
Published Online: 22 August 2023
... Connexin 26 Gap junction According to a report by the World Health Organization (WHO) in 2020, there were about 241 million cases of malaria and 627,000 deaths due to this disease [WHO, 2021]. Therefore, control and management of this disease are of pivotal importance. Antimalarial medicines...
Journal Articles
GJB2 and GJB6 Genes: Molecular Study and Identification of Novel GJB2 Mutations in the Hearing-Impaired Argentinean Population
Available to PurchaseViviana Dalamón, Vanesa Lotersztein, Agustina Béhèran, Marcela Lipovsek, Fernando Diamante, Norma Pallares, Liliana Francipane, Gustavo Frechtel, Bibiana Paoli, Enrique Mansilla, Vicente Diamante, Ana Belén Elgoyhen
Journal:
Audiology and Neurotology
Audiol Neurotol (2010) 15 (3): 194–202.
Published Online: 04 November 2009
... time two new mutations in GJB2 : the missense mutation c.29 T>C (p.Leu10Pro) in the N terminal domain and c.326 G>T (p.Gly109Val) in the intracytoplasmic domain of connexin 26. This work shows the high prevalence of GJB2 mutations in the Argentinean population, with frequencies...
Journal Articles
Neurotological and Neuroanatomical Changes in the Connexin-26-Related HID/KID Syndrome
Available to PurchaseI. Todt, H.C. Hennies, W. Küster, J. Smolle, G. Rademacher, S. Mutze, D. Basta, A. Eisenschenk, A. Ernst
Journal:
Audiology and Neurotology
Audiol Neurotol (2006) 11 (4): 242–248.
Published Online: 12 June 2006
...I. Todt; H.C. Hennies; W. Küster; J. Smolle; G. Rademacher; S. Mutze; D. Basta; A. Eisenschenk; A. Ernst The phenotype of the HID (hystrix-like ichthyosis, deafness)/KID (keratitis, ichthyosis, deafness) syndrome is primarily characterized by skin changes. However, the connexin 26 (Cx 26) autosomal...
Journal Articles
Clinical Course of Hearing and Language Development in GJB2 and Non- GJB2 Deafness following Habilitation with Hearing Aids
Available to Purchase
Journal:
Audiology and Neurotology
Audiol Neurotol (2006) 11 (1): 59–68.
Published Online: 12 January 2006
...Tatsuo Matsunaga; Eiko Hirota; Seiji Bito; Seiji Niimi; Shin-ichi Usami Mutations in the GJB2 gene (connexin 26) are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. Genetic testing of GJB2 may offer opportunities to predict the features of hearing loss...
Journal Articles
A Novel Connexin 26 Mutation Associated with Autosomal Recessive Sensorineural Deafness
Available to PurchaseKlemens Frei, Trevor Lucas, Reinhard Ramsebner, Christian Schöfer, Wolf-Dieter Baumgartner, Klara Weipoltshammer, Nihan Erginel-Unaltuna, Franz J. Wachtler, Karin Kirschhofer
Journal:
Audiology and Neurotology
Audiol Neurotol (2004) 9 (1): 47–50.
Published Online: 19 December 2003
...Klemens Frei; Trevor Lucas; Reinhard Ramsebner; Christian Schöfer; Wolf-Dieter Baumgartner; Klara Weipoltshammer; Nihan Erginel-Unaltuna; Franz J. Wachtler; Karin Kirschhofer Mutations in the connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment which affects...