Genetics of human female infertility

SA Yatsenko, A Rajkovic - Biology of reproduction, 2019 - academic.oup.com
About 10% of women of reproductive age are unable to conceive or carry a pregnancy to
term. Female factors alone account for at least 35% of all infertility cases and comprise a …

Pathology of gestational trophoblastic disease (GTD)

B Kaur - Best Practice & Research Clinical Obstetrics & …, 2021 - Elsevier
Gestational trophoblastic disease (GTD) is subclassified into hydatidiform mole (HM),
gestational trophoblastic tumours (GTT) and non-neoplastic trophoblastic lesions. HM …

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

M Elbracht, D Mackay, M Begemann… - Human …, 2020 - academic.oup.com
BACKGROUND Human reproductive issues affecting fetal and maternal health are caused
by numerous exogenous and endogenous factors, of which the latter undoubtedly include …

Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles

C Bartosch, A Nadal, AC Braga, A Salerno… - Virchows Archiv, 2024 - Springer
Hydatidiform moles are rare and thus most pathologists and geneticists have little
experience with their diagnosis. It is important to promptly and correctly identify hydatidiform …

Causative mutations and mechanism of androgenetic hydatidiform moles

NMP Nguyen, ZJ Ge, R Reddy, S Fahiminiya… - The American Journal of …, 2018 - cell.com
Androgenetic complete hydatidiform moles are human pregnancies with no embryos and
affect 1 in every 1,400 pregnancies. They have mostly androgenetic monospermic genomes …

Maternal effect genes: Update and review of evidence for a link with birth defects

LE Mitchell - Human Genetics and Genomics Advances, 2022 - cell.com
Maternal effect genes (MEGs) encode factors (eg, RNA) that are present in the oocyte and
required for early embryonic development. Hence, while these genes and gene products are …

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

T Eggermann, E Yapici, J Bliek, A Pereda… - Clinical …, 2022 - Springer
Background Imprinting disorders are a group of congenital diseases which are
characterized by molecular alterations affecting differentially methylated regions (DMRs). To …

[HTML][HTML] Refined diagnosis of hydatidiform moles with p57 immunohistochemistry and molecular genotyping: updated analysis of a prospective series of 2217 cases

D Xing, E Adams, J Huang, BM Ronnett - Modern Pathology, 2021 - Elsevier
Immunohistochemical analysis of p57 expression and molecular genotyping accurately
subclassify molar specimens into complete hydatidiform mole (CHM) and partial …

Gene mutations impede oocyte maturation, fertilization, and early embryonic development

C Fei, L Zhou - Bioessays, 2022 - Wiley Online Library
Reproductive diseases are a long‐standing problem and have become more common in the
world. Currently, 15% of the world's population suffers from infertility, and half of them are …

The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages

J Finley, S Hay, J Oldzej, MM Meredith, N Dzidic… - Reproductive …, 2022 - Elsevier
Research question What is the genetic cause of sporadic and recurrent pregnancy loss and
does the frequency and nature of chromosomal abnormalities play a role? Types and …