Identification of new variants and candidate genes in women with familial premature ovarian insufficiency using whole-exome sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Developmental Biology,Obstetrics and Gynecology,Genetics,Reproductive Medicine,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10815-022-02629-3.pdf
Reference53 articles.
1. Webber L, Davies M, Anderson R, Bartlett J, Braat D, Cartwright B, et al. ESHRE Guideline: management of women with premature ovarian insufficiency. Hum Reprod. 2016;31(5):926–37. https://doi.org/10.1093/humrep/dew027.
2. Man L, Lekovich J, Rosenwaks Z, Gerhardt J. Fragile X-associated diminished ovarian reserve and primary ovarian insufficiency from molecular mechanisms to clinical manifestations. Front Mol Neurosci. 2017;10:290. https://doi.org/10.3389/fnmol.2017.00290.
3. Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, Lobel O, Eideh H, Gulsuner S, et al. Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. J Med Genet. 2015;52(6):391–9. https://doi.org/10.1136/jmedgenet-2014-102921.
4. Li L, Wang B, Zhang W, Chen B, Luo M, Wang J, et al. A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency. Hum Reprod. 2017;32(1):248–55. https://doi.org/10.1093/humrep/dew271.
5. Yang X, Zhang X, Jiao J, Zhang F, Pan Y, Wang Q, et al. Rare variants in FANCA induce premature ovarian insufficiency. Hum Genet. 2019;138(11–12):1227–36. https://doi.org/10.1007/s00439-019-02059-9.
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