Genetics of azoospermia
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …
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 …
Meiosis interrupted: the genetics of female infertility via meiotic failure
Idiopathic or “unexplained” infertility represents as many as 30% of infertility cases
worldwide. Conception, implantation, and term delivery of developmentally healthy infants …
worldwide. Conception, implantation, and term delivery of developmentally healthy infants …
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual …
A Capalbo, M Poli, A Riera-Escamilla… - Human reproduction …, 2021 - academic.oup.com
BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …
Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest
A Riera-Escamilla, A Enguita-Marruedo… - Human …, 2019 - academic.oup.com
STUDY QUESTION What is the diagnostic potential of next generation sequencing (NGS)
based on a 'mouse azoospermia'gene panel in human non-obstructive azoospermia (NOA) …
based on a 'mouse azoospermia'gene panel in human non-obstructive azoospermia (NOA) …
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 …
Meiotic recombination defects and premature ovarian insufficiency
C Huang, T Guo, Y Qin - Frontiers in Cell and Developmental Biology, 2021 - frontiersin.org
Premature ovarian insufficiency (POI) is the depletion of ovarian function before 40 years of
age due to insufficient oocyte formation or accelerated follicle atresia. Approximately 1–5 …
age due to insufficient oocyte formation or accelerated follicle atresia. Approximately 1–5 …
Primary ovarian insufficiency, meiosis and DNA repair
RA Veitia - Biomedical journal, 2020 - Elsevier
Premature ovarian insufficiency (POI) is a major cause of female infertility. It is a
heterogeneous disease that affects about 1% of women under 40 years of age. POI may be …
heterogeneous disease that affects about 1% of women under 40 years of age. POI may be …
Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency
A Heddar, P Dessen, D Flatters, M Misrahi - Molecular Genetics and …, 2019 - Springer
Primary ovarian insufficiency (POI) affects~ 1–3, 7% of women under forty and is a public
health problem. Most causes are unknown, but an increasing number of genetic causes …
health problem. Most causes are unknown, but an increasing number of genetic causes …
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency
MM Franca, MFA Funari, AM Lerario, MG Santos… - PLoS …, 2020 - journals.plos.org
Primary ovarian insufficiency (POI) is a heterogeneous disorder associated with several
genes. The majority of cases are still unsolved. Our aim was to identify the molecular …
genes. The majority of cases are still unsolved. Our aim was to identify the molecular …