Ekaterina N Tolmacheva (Anna A Kashevarova)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 6

Top Topics

Intellectual Disability

Top Venues

Journal of assisted reproduction and genetics

Nature medicine

American journal of medical genetics. Part A

Molecular cytogenetics

This page only lists publications with an associated author ORCID identifier.

Publications

Rick Essers, Igor N Lebedev, Ants Kurg, Elizaveta A Fonova, Servi J C Stevens, Rebekka M Koeck, Ulrike von Rango, Lloyd Brandts, Spyridon Panagiotis Deligiannis, Tatiana V Nikitina, Elena A Sazhenova, Ekaterina N Tolmacheva, Ekaterina N Tolmacheva, Dmitry A Fedotov, Viktoria V Demeneva, Daria I Zhigalina, Gleb V Drozdov, Salwan Al-Nasiry, Merryn V E Macville, Arthur van den Wijngaard, Jos Dreesen, Aimee Paulussen, Alexander Hoischen, Han G Brunner, Andres Salumets, Masoud Zamani Esteki
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss. Nature medicine (2023)
Elena A Sazhenova, Tatiana V Nikitina, Stanislav A Vasilyev, Ekaterina N Tolmacheva, Oksana Yu Vasilyeva, Anton V Markov, Sergey Yu Yuryev, Nikolay A Skryabin, Aleksei A Zarubin, Nikita Aleksandrovich Kolesnikov, Vadim A Stepanov, Igor N Lebedev
NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss. Journal of assisted reproduction and genetics 38 (11) (2021)
Stanislav A Vasilyev, Ekaterina N Tolmacheva, Oksana Yu Vasilyeva, Anton V Markov, Daria I Zhigalina, Lada A Zatula, Vasilissa A Lee, Ekaterina S Serdyukova, Elena A Sazhenova, Tatiana V Nikitina, Ekaterina N Tolmacheva, Igor N Lebedev
LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy. Journal of assisted reproduction and genetics 38 (1) (2020)
Ekaterina N Tolmacheva, Tatyana V Nikitina, Larisa I Mikhailik, Elena O Belyaeva, Stanislav A Vasilyev, Mariya E Lopatkina, Dmitry A Fedotov, Elizaveta A Fonova, Aleksei A Zarubin, Aleksei A Sivtsev, Nikolay A Skryabin, Lyudmila P Nazarenko, Igor N Lebedev
46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study. Genes 11 (12) (2020)
Ekaterina N Tolmacheva, Elena O Belyaeva, Aleksandr M Nikonov, Olga V Plotnikova, Nikolay A Skryabin, Tatyana V Nikitina, Stanislav A Vasilyev, Yulia S Yakovleva, Nadezda P Babushkina, Ekaterina N Tolmacheva, Mariya E Lopatkina, Renata R Savchenko, Lyudmila P Nazarenko, Igor N Lebedev
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22. Molecular cytogenetics 11 (2018)
Ekaterina N Tolmacheva, Lyudmila P Nazarenko, Nikolay A Skryabin, Tatiana V Nikitina, Stanislav A Vasilyev, Ekaterina N Tolmacheva, Mariya E Lopatkina, Olga A Salyukova, Nataliya N Chechetkina, Ekaterina A Vorotelyak, Ekaterina P Kalabusheva, Veniamin S Fishman, Julia Kzhyshkowska, Claudio Graziano, Pamela Magini, Giovanni Romeo, Igor N Lebedev
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability. American journal of medical genetics. Part A 176 (11) (2018)