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. |