trié(s) par (Pertinence décroissant(e), Titre croissant(e)) 

Article

Audiological features of GJB2 (connexin 26) deafness

Xue Zhong Liu ; Arti Pandya ; Simon Angeli ; Fred F. Telischi ; Kathleen S. Arnos ; Walter E. Nance ; Thomas Balkany |

Dans Ear and hearing (Vol.26, n° 3, Juin 2005)

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Article

Does Universal Newborn Hearing Screening Identify All Children with GJB2 (Connexin 26) Deafness? Penetrance of GJB2 Deafness

Virginia W. Norris ; Kathleen S. Arnos ; Wendy D. Hanks ; Xia Xia ; Walter E. Nance ; Arti Pandya |

Dans Ear and hearing (Vol.27, n° 6, Décembre 2006)

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Article

GJB2 p.V37I Mutation Associated With Moderate Nonsyndromic Hearing Loss in an Adult Taiwanese Population

Ting-Ting Yen ; I-Chieh Chen ; Sudi Cho ; Ting-Gang Chang ; Kai-Hsiang Shih ; Men-Wei Hua ; Jui-Lin Li ; Chiann-Yi Hsu ; Tzu-Hung Hsiao ; Yi-Ming Chen |

Dans Ear and hearing (Vol. 44, n°6, November December 2023)

Background: Gap junction protein beta 2 (GJB2) p.V37I mutations are the most important hereditary cause of sensorineural hearing loss (SNHL) in Taiwan. Hearing outcomes are associated with hearing levels at baseline and the duration of follow-up[...]

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Article

X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4

Henrik Smeds ; Jeremy Wales ; Eva Karltorp ; Britt-Marie Anderlid ; Cecilia Henricson ; Filip Asp ; Lena Anmyr ; Kristina Lagertedt-Robinson ; Ulrika Lofkvist |

Dans Ear and hearing (Vol.43, n°1, Janvier-février 2022)

Objective: Incomplete partition type 3 (IP3) malformation deafness is a rare hereditary cause of congenital or rapid progressive hearing loss. The children present with a severe to profound mixed hearing loss and temporal bone imaging show a typ[...]

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