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Year Number of Results
2013 1
2014 2
2016 1
2018 2
2020 3
2021 4
2022 2
2023 1
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14 results

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Page 1
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Essers R, Lebedev IN, Kurg A, Fonova EA, Stevens SJC, Koeck RM, von Rango U, Brandts L, Deligiannis SP, Nikitina TV, Sazhenova EA, Tolmacheva EN, Kashevarova AA, Fedotov DA, Demeneva VV, Zhigalina DI, Drozdov GV, Al-Nasiry S, Macville MVE, van den Wijngaard A, Dreesen J, Paulussen A, Hoischen A, Brunner HG, Salumets A, Zamani Esteki M. Essers R, et al. Among authors: tolmacheva en. Nat Med. 2023 Dec;29(12):3233-3242. doi: 10.1038/s41591-023-02645-5. Epub 2023 Nov 23. Nat Med. 2023. PMID: 37996709 Free PMC article.
NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.
Sazhenova EA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Vasilyeva OY, Markov AV, Yuryev SY, Skryabin NA, Zarubin AA, Kolesnikov NA, Stepanov VA, Lebedev IN. Sazhenova EA, et al. Among authors: tolmacheva en. J Assist Reprod Genet. 2021 Nov;38(11):2893-2908. doi: 10.1007/s10815-021-02312-z. Epub 2021 Sep 23. J Assist Reprod Genet. 2021. PMID: 34554362 Free PMC article.
Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.
Vasilyev SA, Skryabin NA, Kashevarova AA, Tolmacheva EN, Savchenko RR, Vasilyeva OY, Lopatkina ME, Zarubin AA, Fishman VS, Belyaeva EO, Filippova MO, Shorina AR, Maslennikov AB, Shestovskikh OL, Gayner TA, Čulić V, Vulić R, Nazarenko LP, Lebedev IN. Vasilyev SA, et al. Among authors: tolmacheva en. Cytogenet Genome Res. 2021;161(3-4):105-119. doi: 10.1159/000514491. Epub 2021 Apr 13. Cytogenet Genome Res. 2021. PMID: 33849037 Free article.
LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy.
Vasilyev SA, Tolmacheva EN, Vasilyeva OY, Markov AV, Zhigalina DI, Zatula LA, Lee VA, Serdyukova ES, Sazhenova EA, Nikitina TV, Kashevarova AA, Lebedev IN. Vasilyev SA, et al. Among authors: tolmacheva en. J Assist Reprod Genet. 2021 Jan;38(1):139-149. doi: 10.1007/s10815-020-02003-1. Epub 2020 Nov 10. J Assist Reprod Genet. 2021. PMID: 33170392 Free PMC article.
Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
Tolmacheva EN, Kashevarova AA, Nazarenko LP, Minaycheva LI, Skryabin NA, Lopatkina ME, Nikitina TV, Sazhenova EA, Belyaeva EO, Fonova EA, Salyukova OA, Tarabykin VS, Lebedev IN. Tolmacheva EN, et al. Cytogenet Genome Res. 2020;160(5):245-254. doi: 10.1159/000508050. Epub 2020 May 30. Cytogenet Genome Res. 2020. PMID: 32485717
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
Kashevarova AA, Nazarenko LP, Skryabin NA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Lopatkina ME, Salyukova OA, Chechetkina NN, Vorotelyak EA, Kalabusheva EP, Fishman VS, Kzhyshkowska J, Graziano C, Magini P, Romeo G, Lebedev IN. Kashevarova AA, et al. Among authors: tolmacheva en. Am J Med Genet A. 2018 Nov;176(11):2395-2403. doi: 10.1002/ajmg.a.40478. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244536
14 results