Associated Papers
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.
Bilo L et al.
Clinical Epigenetics, 2023
36859312 (PubMed )
Supplement: 13148_2023_1453_MOESM1_ESM.xlsx › 7__WES_results
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
Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest.
Mu J et al.
Journal of Medical Genetics, 2019
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann M et al.
Journal of Medical Genetics, 2018
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