자료유형 | 학위논문 |
---|---|
서명/저자사항 | Characterization of Rare Genetic Variation in Polycystic Ovary Syndrome. |
개인저자 | Gorsic, Lidija Kristina. |
단체저자명 | Northwestern University. Life Sciences. |
발행사항 | [S.l.]: Northwestern University., 2018. |
발행사항 | Ann Arbor: ProQuest Dissertations & Theses, 2018. |
형태사항 | 160 p. |
기본자료 저록 | Dissertation Abstracts International 79-11B(E). Dissertation Abstract International |
ISBN | 9780438117174 |
학위논문주기 | Thesis (Ph.D.)--Northwestern University, 2018. |
일반주기 |
Source: Dissertation Abstracts International, Volume: 79-11(E), Section: B.
Advisers: Ji-Yong Julie Kim |
요약 | Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting approximately 1 in 10 reproductive-age women and remains the leading cause of female factor infertility among women of childbearing age. PCOS presents with features of hyp |
요약 | Two of the 11 panel genes included anti-Mullerian hormone ( AMH) and its specific type II receptor (AMHR2). Women affected with PCOS often have elevated levels of AMH. In the ovary AMH inhibits follicle maturation, thus the elevated AMH levels s |
요약 | Given that PCOS is a complex disorder with a heterogeneous presentation, several genes and pathways likely lead to various PCOS phenotypes. Analyses of targeted resequencing data also identified predicted deleterious missense variants, specific |
일반주제명 | Genetics. Endocrinology. |
언어 | 영어 |
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