Genetics of primary ovarian insufficiency: new developments and opportunities
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Summary
Given the slow progress in candidate-gene analysis and relatively small sample sizes available for GWAS, family-based whole exome and whole genome sequencing appear to be the most promising approaches for detecting potential genes responsible for POI.
- Type
- review
- Published
- 2015-08-04
- Cited by
- 472
- References
- 258
- Access
- Open access
- OpenAlex
- https://openalex.org/W1913232349
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:17039073
Keywords
Biology, Genetics, Bioinformatics
References
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- Genetics in obstetrics and gynecology
- Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner
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- Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
- Mental status of females with an FMR1 gene full mutation.
- Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
- The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.
- FOXL2 mutation screening in a large panel of POF patients and XX males
- X inactivation in man: a woman with t(Xq--;12q+).
- Copy number variants on the X chromosome in women with primary ovarian insufficiency.
- Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
Cited by
- Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure.
- Environmentally Induced Epigenetic Transgenerational Inheritance of Reproductive Disease
- Fertility preservation in Turner syndrome.
- Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women
- A non‐sense MCM9 mutation in a familial case of primary ovarian insufficiency
- 2016 IMS Recommendations on women’s midlife health and menopause hormone therapy
- NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency
- Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency.
- A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family
- MITOCHONDRIAL DYSFUNCTION AS POSSIBLE CAUSE OF IMPAIRED FOLLICULAR DEVELOPMENT
- Primary ovarian insufficiency: different approaches in three cases and a review of literature
- Ovarian Physiology and GWAS: Biobanks, Biology, and Beyond
- Reproductive and Gynecologic Care of Women with Fragile X Primary Ovarian Insufficiency (FXPOI)
- The emerging role of progesterone receptor membrane component 1 (PGRMC1) in cancer biology.
- The comparison of animal models for premature ovarian failure established by several different source of inducers.
- Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.
- Primary Ovarian Insufficiency
- TBP2 gene may not be associated with primary ovarian insufficiency
- Reproductive outcomes of familial oocyte donation.
- Inversion péricentrique d’un chromosome 7 associée à une insuffisance ovarienne prématurée et une maladie inflammatoire chronique de l’intestin : 2 points de cassure pour 2 symptômes ?
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