Literature DB >> 9777489

Genetics and hearing loss: a review of Stickler syndrome.

C B Nowak1.   

Abstract

Stickler syndrome is an autosomal dominant multisystem disease. The four most affected systems are craniofacial, skeletal, ocular, and auditory. The manifestations of Stickler syndrome vary considerably among affected individuals. Audiologists and speech-language pathologists should be familiar with the characteristics associated with Stickler syndrome to facilitate early identification and appropriate management.

Entities:  

Mesh:

Year:  1998        PMID: 9777489     DOI: 10.1016/s0021-9924(98)00015-x

Source DB:  PubMed          Journal:  J Commun Disord        ISSN: 0021-9924            Impact factor:   2.288


  6 in total

1.  Medical Referral Patterns and Etiologies for Children With Mild-to-Severe Hearing Loss.

Authors:  Paul D Judge; Erik Jorgensen; Monica Lopez-Vazquez; Patricia Roush; Thomas A Page; Mary Pat Moeller; J Bruce Tomblin; Lenore Holte; Craig Buchman
Journal:  Ear Hear       Date:  2019 Jul/Aug       Impact factor: 3.570

Review 2.  Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Authors:  John D Gettelfinger; John P Dahl
Journal:  J Pediatr Genet       Date:  2018-01-04

Review 3.  Syndromes of hearing loss associated with visual loss.

Authors:  Kamal Ahmed Abou-Elhamd; Hesham Mohamed ElToukhy; Fahad Abdullah Al-Wadaani
Journal:  Eur Arch Otorhinolaryngol       Date:  2013-04-30       Impact factor: 2.503

4.  Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome.

Authors:  Hiroyuki Kondo; Itsuka Matsushita; Tatsuo Nagata; Takaaki Hayashi; Masashi Kakinoki; Eiichi Uchio; Mineo Kondo; Masahito Ohji; Shunji Kusaka
Journal:  Hum Genome Var       Date:  2016-07-07

5.  Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.

Authors:  Xun Wang; Xiaoyun Jia; Xueshan Xiao; Shiqiang Li; Jie Li; Yadi Li; Yantao Wei; Xiaoling Liang; Xiangming Guo
Journal:  Mol Vis       Date:  2016-06-23       Impact factor: 2.367

Review 6.  Hearing impairment in Stickler syndrome: a systematic review.

Authors:  Frederic R E Acke; Ingeborg J M Dhooge; Fransiska Malfait; Els M R De Leenheer
Journal:  Orphanet J Rare Dis       Date:  2012-10-30       Impact factor: 4.123

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.