[PDF][PDF] Studying the effects of genetic factors on the female reproductive lifespan

S Shekari - 2024 - ore.exeter.ac.uk
The objective of my research was to investigate the rare and very-rare genetic factors
influencing female reproductive ageing in humans using large-scale population exome …

Lessons from genome-wide association studies in reproductive medicine: menopause

KS Ruth, A Murray - Seminars in reproductive medicine, 2016 - thieme-connect.com
In recent years, common genetic variants have been identified by genome-wide association
studies (GWASs) that have led to the detection of 44 genetic loci associated with …

[PDF][PDF] Evaluating the penetrance of pathogenic genetic variants associated with Premature Ovarian Insufficiency

JDC Pereira Baptista - 2023 - pearl.plymouth.ac.uk
Premature ovarian insufficiency (POI) affects 1% of women and is a leading cause of
infertility. It is often considered to be a monogenic disorder, with pathogenic variants in~ 100 …

Monogenic causes of Premature Ovarian Insufficiency are rare and mostly recessive

S Shekari, S Stankovic, EJ Gardner, G Hawkes… - medRxiv, 2022 - medrxiv.org
Premature ovarian insufficiency (POI) affects 1% of women and is a leading cause of
infertility. It is often considered to be a monogenic disorder, with pathogenic variants in∼ …

The genetics of the ageing ovary

S Stankovic, J Perry, A Murray, S Shekari… - Endocrine …, 2023 - endocrine-abstracts.org
Menopause timing is highly variable, having a direct effect on reproductive lifespan, fertility
and health outcomes in later life. Endocrine and imaging tests only record changes in …

Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study

A Murray, CE Bennett, JRB Perry… - Human molecular …, 2011 - academic.oup.com
Women become infertile approximately 10 years before menopause, and as more women
delay childbirth into their 30s, the number of women who experience infertility is likely to …

Dissecting the genetics of ovarian ageing

DJ Burgess - Nature Reviews Genetics, 2021 - nature.com
Dissecting the genetics of ovarian ageing | Nature Reviews Genetics Skip to main content
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O-147 Genomic analyses in 101,127 UK women show that previously reported monogenic genes are not common causes of premature ovarian insufficiency

S Shekari, S Stankovic, KS Ruth, J Prague… - Human …, 2022 - academic.oup.com
Study question What is the penetrance of variants in previously reported genes for
premature ovarian insufficiency (POI) in the general population? Summary answer …

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency

S Shekari, S Stankovic, EJ Gardner, G Hawkes… - Nature Medicine, 2023 - nature.com
Premature ovarian insufficiency (POI) affects 1% of women and is a leading cause of
infertility. It is often considered to be a monogenic disorder, with pathogenic variants in~ 100 …

BMP15, fertility and the ovary

R Abir, B Fisch, MH Johnson - Reproductive BioMedicine Online, 2014 - rbmojournal.com
Premature ovarian failure (POF), also known as premature menopause, is defined as at
least six months of amenorrhea before the age of 40 with elevated gonadotrophins and …