Hydatidiform moles: genetic basis and precision diagnosis
Hydatidiform moles are intriguing pathologic entities representing abnormal placental villous
tissue with unique genetic profiles and a wide spectrum of morphologic features, which …
tissue with unique genetic profiles and a wide spectrum of morphologic features, which …
A maternal functional module in the mammalian oocyte-to-embryo transition
Prior to zygotic genome activation, early mammalian development relies on maternal-effect
genes to orchestrate the oocyte-to-embryo transition. Recently, a subcortical maternal …
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 …
affect 1 in every 1,400 pregnancies. They have mostly androgenetic monospermic genomes …
Risk of recurrent molar pregnancies following complete and partial hydatidiform moles
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 …
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
Hydatidiform mole (HM) is an abnormal human pregnancy characterized by excessive
growth of placental trophoblasts and abnormal early embryonic development. Following a …
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 …
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 …
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 …
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 …
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 …
loci are affected. Familial occurrence of multilocus imprinting disorders is rare …