Articles with "multilocus imprinting" as a keyword



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NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss

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Published in 2021 at "Journal of Assisted Reproduction and Genetics"

DOI: 10.1007/s10815-021-02312-z

Abstract: Comparative analysis of multilocus imprinting disturbances (MLIDs) in miscarriages from women with sporadic (SPL) and recurrent pregnancy loss (RPL) and identification of variants in the imprinting control gene NLRP7 that may lead to MLIDs. Chorionic… read more here.

Keywords: miscarriages women; imprinting disturbances; nlrp7 variants; pregnancy loss ... See more keywords
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Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny

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Published in 2022 at "Clinical Epigenetics"

DOI: 10.1186/s13148-022-01262-2

Abstract: Beckwith–Wiedemann syndrome (BWS, OMIM # 130650) is an imprinting disorder, associated with overgrowth and increased risk of embryonal tumors. Patients carrying hypomethylation in the KCNQ1OT1 :TSS DMR (11p15.5) show MLID (Multilocus Imprinting Disturbance) upon epimutations… read more here.

Keywords: subcortical maternal; imprinting disturbance; maternal complex; beckwith wiedemann ... See more keywords