Associated Papers
Advances in monogenic female infertility.
Gu H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
A novel homozygous mutation in the NLRP2 gene causes early embryonic arrest.
Chai M et al.
Journal of Assisted Reproduction and Genetics, 2024
Genetic variants underlying developmental arrests in human preimplantation embryos.
Ozturk S
Molecular Human Reproduction, 2023
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Pignata L 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
Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest.
Mu J et al.
Journal of Medical Genetics, 2019
NLRP2, an inhibitor of the NF-kappaB pathway, is transcriptionally activated by NF-kappaB and exhibits a nonfunctional allelic variant.
Fontalba A et al.
Journal of Immunology (baltimore, Md. : 1950), 2007
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