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

Article

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers

Sébastien Janssens de Varebeke ; Ronald J. Pennings ; Vedat Topsakal ; Katrien Devroye ; Raymond van de Berg ; Erik Fransen ; Julie Moyaert ; Britt Bulen ; Celine Neesen ; Olivier Vanderveken ; Guy Van Camp ; Vincent Van Rompaey |

Dans Ear and hearing (Vol 42, n°6, Novembre-décembre 2021)

DFNA9 is characterized by adult-onset progressive sensorineural hearing loss (SNHL) and vestibular impairment. More than 15 years ago, genotype-phenotype correlation studies estimated the initial age of hearing deterioration in the fourth to fif[...]

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Article

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part II: A Prospective Cross-Sectional Study of the Vestibular Phenotype in 111 Carriers

Sébastien Janssens de Varebeke ; Ronald J. Pennings ; Vedat Topsakal ; Katrien Devroye ; Raymond van de Berg ; Erik Fransen ; Julie Moyaert ; Britt Bulen ; Celine Neesen ; Olivier Vanderveken ; Guy Van Camp ; Vincent Van Rompaey |

Dans Ear and hearing (Vol 42, n°6, Novembre-décembre 2021)

Introduction: DFNA9 is characterized by adult-onset hearing loss and evolution toward bilateral vestibulopathy (BVP). The genotype-phenotype correlation studies were conducted 15 years ago. However, their conclusions were mainly based on symptom[...]

Plus d'information... En ligne