Literature DB >> 12408080

X-linked mixed deafness syndrome with congenital fixation of the stapedial footplate and perilymphatic gusher (DFN3).

C W R J Cremers1, A F M Snik, P L M Huygen, F B M Joosten, F P M Cremers.   

Abstract

Entities:  

Mesh：

Year:  2002        PMID： 12408080     DOI： 10.1159/000066826

Source DB:  PubMed          Journal:  Adv Otorhinolaryngol        ISSN： 0065-3071


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  8 in total

Review 1.  Conductive hearing loss caused by third-window lesions of the inner ear.

Authors:  Saumil N Merchant; John J Rosowski
Journal:  Otol Neurotol       Date:  2008-04       Impact factor: 2.311

2.  Clinical utility of laser-Doppler vibrometer measurements in live normal and pathologic human ears.

Authors:  John J Rosowski; Hideko H Nakajima; Saumil N Merchant
Journal:  Ear Hear       Date:  2008-01       Impact factor: 3.570

3.  Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations.

Authors:  Byung Yoon Choi; Yong-Hwi An; Joo Hyun Park; Jeong Hun Jang; Hyun Chung Chung; Ah-Reum Kim; Jun Ho Lee; Chong-Sun Kim; Seung Ha Oh; Sun O Chang
Journal:  Eur Arch Otorhinolaryngol       Date:  2013-02-12       Impact factor: 2.503

4.  A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery.

Authors:  Ahmet M Tekin; Marco Matulic; Wim Wuyts; Masoud Zoka Assadi; Griet Mertens; Vincent van Rompaey; Yongxin Li; Paul van de Heyning; Vedat Topsakal
Journal:  Genes (Basel)       Date:  2021-04-21       Impact factor: 4.096

Review 5.  X-Linked Sensorineural Hearing Loss: A Literature Review.

Authors:  Virginia Corvino; Pasqualina Apisa; Rita Malesci; Carla Laria; Gennaro Auletta; Annamaria Franzé
Journal:  Curr Genomics       Date:  2018-08       Impact factor: 2.236

6.  Genetic etiology study of four Chinese families with two nonsyndromic deaf children in succession by targeted next-generation sequencing.

Authors:  Caixia Xiao; Shuang Liu; Hongyue Wang; Yibing Ding; Yaqiu Chen; Haiyan Liu
Journal:  Mol Genet Genomic Med       Date:  2021-02-27       Impact factor: 2.183

7.  A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss.

Authors:  Bang-Qing Huang; Jia-Ling Zeng; Yong-Yi Yuan; Pu Dai
Journal:  J Otol       Date:  2015-09-30

Review 8.  Molecular genetics of non-syndromic deafness.

Authors:  Vânia B Piatto; Ellen C T Nascimento; Fabiana Alexandrino; Camila A Oliveira; Ana Cláudia P Lopes; Edi Lúcia Sartorato; José Victor Maniglia
Journal:  Braz J Otorhinolaryngol       Date:  2005-08-02
  8 in total

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