Associated Papers
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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Genetic variants underlying developmental arrests in human preimplantation embryos.
Ozturk S
Molecular Human Reproduction, 2023
A familial case of recurrent hydatidiform mole with p.Asp108Ilefs∗30 causing mutation in KHDC3L: A genetic and clinical report.
Fatemi N et al.
Taiwanese Journal of Obstetrics & Gynecology, 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
Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole.
Rezaei M et al.
Human Genome Variation, 2016
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.
Reddy R et al.
European Journal of Human Genetics : Ejhg, 2013
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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