Associated Papers
Advances in monogenic female infertility.
Gu H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
The retrospective data analysis of NLRP7 and KHDC3L mutations in Turkish patients with recurrent hydatidiform mole.
Özer L et al.
Turkish Journal of Obstetrics and Gynecology, 2025
A Maternal Loss-of-Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report.
Anvar Z et al.
Molecular Genetics & Genomic Medicine, 2025
Molecular Basis of Hydatidiform Moles-A Systematic Review.
Bahutair SNM et al.
International Journal of Molecular Sciences, 2024
Gene mutations impede oocyte maturation, fertilization, and early embryonic development.
Fei CF et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T et al.
Clinical Epigenetics, 2022
DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.
Anvar Z et al.
Genes, 2021
KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole.
Fatemi N et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2021
Founder Effect of KHDC3L, p.M1V Mutation, on Iranian Patients with Recurrent Hydatidiform Moles.
Fallahi J et al.
Iranian Journal of Medical Sciences, 2020
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation.
Demond H et al.
Genome Medicine, 2019
Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole.
Rezaei M et al.
Human Genome Variation, 2016
Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.
Fallahian M et al.
Human Mutation, 2013
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
Parry DA et al.
American Journal of Human Genetics, 2011
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