Hydatidiform moles: genetic basis and precision diagnosis

P Hui, N Buza, KM Murphy… - Annual Review of …, 2017 - annualreviews.org
Hydatidiform moles are intriguing pathologic entities representing abnormal placental villous
tissue with unique genetic profiles and a wide spectrum of morphologic features, which …

A maternal functional module in the mammalian oocyte-to-embryo transition

X Lu, Z Gao, D Qin, L Li - Trends in molecular medicine, 2017 - cell.com
Prior to zygotic genome activation, early mammalian development relies on maternal-effect
genes to orchestrate the oocyte-to-embryo transition. Recently, a subcortical maternal …

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 …

Risk of recurrent molar pregnancies following complete and partial hydatidiform moles

N Eagles, NJ Sebire, D Short, PM Savage… - Human …, 2015 - academic.oup.com
STUDY QUESTION What is the risk of further molar pregnancies for women with one or
more hydatidiform moles (HM) in relation to molar subtype. SUMMARY ANSWER Women …

Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus

R Slim, R Fisher, F Milhavet, R Hemida… - Human …, 2022 - Wiley Online Library
Hydatidiform mole (HM) is an abnormal human pregnancy characterized by excessive
growth of placental trophoblasts and abnormal early embryonic development. Following a …

No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility

L Aghajanova, S Mahadevan, S Altmäe… - Human …, 2015 - academic.oup.com
STUDY QUESTION Are mutations in NLRP2/7 (NACHT, LRR and PYD domains-containing
protein 2/7) or KHDC3L (KH Domain Containing 3 Like) associated with recurrent …

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations

E Akoury, N Gupta, R Bagga, S Brown, C Déry… - Reproductive …, 2015 - Elsevier
Hydatidiform mole (HM) is an aberrant human pregnancy with abnormal embryonic
development and excessive proliferation of the trophoblast. Recessive mutations in NLRP7 …

The role of maternal-effect genes in mammalian development: are mammalian embryos really an exception?

ML Condic - Stem Cell Reviews and Reports, 2016 - Springer
The essential contribution of multiple maternal factors to early mammalian development is
rapidly altering the view that mammals have a unique pattern of development compared to …

The significance of the placental genome and methylome in fetal and maternal health

GF Del Gobbo, C Konwar, WP Robinson - Human genetics, 2020 - Springer
The placenta is a crucial organ for supporting a healthy pregnancy, and defective
development or function of the placenta is implicated in a number of complications of …

A familial disorder of altered DNA-methylation

A Caliebe, J Richter, O Ammerpohl, D Kanber… - Journal of medical …, 2014 - jmg.bmj.com
Background In a subset of imprinting disorders caused by epimutations, multiple imprinted
loci are affected. Familial occurrence of multilocus imprinting disorders is rare …