Molecular genetics of premature ovarian insufficiency
Premature ovarian insufficiency (POI) is highly heterogeneous in genetic etiology. Yet
identifying causative genes has been challenging with candidate gene approaches. Recent …
identifying causative genes has been challenging with candidate gene approaches. Recent …
Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum
Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …
Genetics of ovarian insufficiency and defects of folliculogenesis
MM França, BB Mendonca - … practice & research Clinical endocrinology & …, 2022 - Elsevier
Primary ovarian insufficiency (POI) is determined by exhaustion of follicles in the ovaries,
which leads to infertility before the age of 40 years. It is characterized by a strong familial …
which leads to infertility before the age of 40 years. It is characterized by a strong familial …
Ovarian follicular theca cell recruitment, differentiation, and impact on fertility: 2017 update
JAS Richards, YA Ren, N Candelaria… - Endocrine …, 2018 - academic.oup.com
The major goal of this review is to summarize recent exciting findings that have been
published within the past 10 years that, to our knowledge, have not been presented in detail …
published within the past 10 years that, to our knowledge, have not been presented in detail …
Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency
I Huhtaniemi, O Hovatta, A La Marca, G Livera… - Trends in Endocrinology …, 2018 - cell.com
Primary ovarian insufficiency (POI) affects∼ 1% of women before 40 years of age. The
recent leap in genetic knowledge obtained by next generation sequencing (NGS) together …
recent leap in genetic knowledge obtained by next generation sequencing (NGS) together …
Epg5 deficiency leads to primary ovarian insufficiency due to WT1 accumulation in mouse granulosa cells
Primary ovarian insufficiency (POI), also known as premature ovarian failure, is an ovarian
defect in humans characterized by the premature depletion of ovarian follicles before the …
defect in humans characterized by the premature depletion of ovarian follicles before the …
Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency
J Bouilly, I Beau, S Barraud, V Bernard… - The Journal of …, 2016 - academic.oup.com
Context: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and
infertility. POI affects 1% of women before age 40 years, and several genetic causes have …
infertility. POI affects 1% of women before age 40 years, and several genetic causes have …
Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease
Context Primary ovarian insufficiency (POI) encompasses a spectrum of premature
menopause, including both primary and secondary amenorrhea. For 75% to 90% of …
menopause, including both primary and secondary amenorrhea. For 75% to 90% of …
Genetics of primary ovarian insufficiency in the next-generation sequencing era
MM França, BB Mendonca - Journal of the Endocrine Society, 2020 - academic.oup.com
Primary ovarian insufficiency (POI) is characterized by amenorrhea, increased follicle-
stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age …
stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age …
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction
of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive …
of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive …