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Precision Health and Deafness: Optimizing Genetic Diagnosis
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| 자료유형 | 학위논문 |
|---|---|
| 서명/저자사항 | Precision Health and Deafness: Optimizing Genetic Diagnosis. |
| 개인저자 | Sloan-Heggen, Christina Marie. |
| 단체저자명 | The University of Iowa. Molecular Physiology & Biophysics. |
| 발행사항 | [S.l.]: The University of Iowa., 2018. |
| 발행사항 | Ann Arbor: ProQuest Dissertations & Theses, 2018. |
| 형태사항 | 191 p. |
| 기본자료 저록 | Dissertation Abstracts International 79-11B(E). Dissertation Abstract International |
| ISBN | 9780438151253 |
| 학위논문주기 | Thesis (Ph.D.)--The University of Iowa, 2018. |
| 일반주기 |
Source: Dissertation Abstracts International, Volume: 79-11(E), Section: B.
Adviser: Richard JH Smith. |
| 요약 | Deafness is the most common sensory deficit in humans. In the United States 1--2 in a thousand babies is born with significant deafness, well over half of which is hereditary. Providing a patient and their family with a genetic diagnosis is the |
| 요약 | Targeted genomic enrichment and massively parallel sequencing (TGE+MPS) have revolutionized the field of precision health and medicine, allowing for comprehensive genetic diagnosis of many complicated conditions, including NSHL. To take advantag |
| 요약 | With the implementation of OtoSCOPERTM we aspire to accomplish two aims: providing comprehensive genetic diagnosis for patients all over the world and characterizing the full spectrum of hereditary hearing loss. The goal of my thesis work has be |
| 요약 | Finally, we interrogated the contribution of syndromic forms of deafness which may actually manifest as NSHL (NSHL mimics) within two deafness cohorts. We performed a retrospective chart review of 14 families with syndromic deafness seen by the |
| 요약 | All of these studies have lead to the better understanding of the genes and variants that cause NSHL and its mimics, providing a more accurate genetic diagnosis, which is prerequisite to a future of targeted genetic therapies. |
| 일반주제명 | Health sciences. Genetics. |
| 언어 | 영어 |
| 바로가기 | 
: 이 자료의 원문은 한국교육학술정보원에서 제공합니다. |
