Title |
Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication
|
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Published in |
Orphanet Journal of Rare Diseases, November 2014
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DOI | 10.1186/s13023-014-0167-8 |
Pubmed ID | |
Authors |
Joo Hyun Park, Nayoung K D Kim, Ah Reum Kim, Jihye Rhee, Seung Ha Oh, Ja-Won Koo, Jae-Yong Nam, Woong-Yang Park, Byung Yoon Choi |
Abstract |
Severe to profound sensorineural hearing loss (SNHL) requires cochlear implantation (CI) for auditory rehabilitation. Etiologic diagnoses can contribute to candidacy selection and decision-making regarding the timing of successful CI. However, few studies have been performed to address the etiologic spectrum of severe SNHL in the population where there is no consanguineous marriage and the majority of SNHL cases are sporadic in small sized families. The authors sought to comprehensively understand the etiologies of Korean cochlear implantees by incorporating the targeted resequencing of 204 candidate deafness genes (TRS-204) and a phenotype-driven candidate gene approach. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 57 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 10 | 18% |
Unspecified | 9 | 16% |
Other | 5 | 9% |
Student > Bachelor | 4 | 7% |
Student > Postgraduate | 4 | 7% |
Other | 10 | 18% |
Unknown | 15 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 13 | 23% |
Unspecified | 9 | 16% |
Biochemistry, Genetics and Molecular Biology | 7 | 12% |
Nursing and Health Professions | 3 | 5% |
Social Sciences | 2 | 4% |
Other | 3 | 5% |
Unknown | 20 | 35% |