Search Results - "Zhigalina, Daria I."

Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome by Zhalsanova, Irina Zh, Ravzhaeva, Ekatherina G, Postrigan, Anna E, Seitova, Gulnara N, Zhigalina, Daria I, Udalova, Vasilisa Yu, Danina, Maryana M, Kanivets, Ilya V, Skryabin, Nikolay A

“…Rafiq syndrome (RAFQS) is a congenital disorder of glycosylation (CDG) that is caused by mutations in the MAN1B1 gene and characterized by impaired protein and…”
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Identification of differentially methylated genes in first-trimester placentas with trisomy 16 by Tolmacheva, Ekaterina N., Vasilyev, Stanislav A., Nikitina, Tatiana V., Lytkina, Ekaterina S., Sazhenova, Elena A., Zhigalina, Daria I., Vasilyeva, Oksana Yu, Markov, Anton V., Demeneva, Victoria V., Tashireva, Liubov A., Kashevarova, Anna A., Lebedev, Igor N.

“…The presence of an extra chromosome in the embryo karyotype often dramatically affects the fate of pregnancy. Trisomy 16 is the most common aneuploidy in…”
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Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing by Lebedev, Igor, Karamysheva, Tatyana, Elisaphenko, Eugeny, Makunin, Alexey, Zhigalina, Daria, Lopatkina, Maria, Drozdov, Gleb, Cheremnykh, Aleksander, Torkhova, Natalia, Seitova, Gulnara, Vasilyev, Stanislav, Kashevarova, Anna, Nazarenko, Ludmila, Rubtsov, Nikolay

“…Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic…”
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Method of targeted bisulfite massive parallel sequencing of the human LINE-1 retrotransposon promoter by Vasilyev, Stanislav A., Markov, Anton V., Vasilyeva, Oksana Yu, Tolmacheva, Ekaterina N., Zatula, Lada A., Sharysh, Diana V., Zhigalina, Daria I., Demeneva, Victoria V., Lebedev, Igor N.

“…The methylation index of the LINE-1 promoter is one of the most commonly used markers for assessing the global level of genome methylation in various human…”
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From contemplation to classification of chromosomal mosaicism in human preimplantation embryos by Lebedev, Igor N., Zhigalina, Daria I.

“…Chromosomal mosaicism is a hallmark of early human embryo development. The last decade yielded an enormous amount of information about diversity and prevalence…”
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Karyotype of the blastocoel fluid demonstrates low concordance with both trophectoderm and inner cell mass by Tšuiko, Olga, Zhigalina, Daria I., Jatsenko, Tatjana, Skryabin, Nikolay A., Kanbekova, Olga R., Artyukhova, Victoria G., Svetlakov, Anatoly V., Teearu, Katre, Trošin, Aleksander, Salumets, Andres, Kurg, Ants, Lebedev, Igor N.

“…To compare the genomic profiles of blastocoel fluid (BF), inner cell mass (ICM), and trophectoderm (TE) cells derived from the same blastocyst. Prospective…”
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PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases by Soloveva, Elena V., Skleimova, Maria M., Minaycheva, Larisa I., Garaeva, Anna F., Zhigalina, Daria I., Churkin, Egor O., Okkel, Yulia V., Timofeeva, Oksana S., Petrov, Ilya A., Seitova, Gulnara N., Lebedev, Igor N., Stepanov, Vadim A.

“…Purpose To present the developed preimplantation genetic testing (PGT) for spinocerebellar ataxia type 1 (SCA1) and the outcomes of IVF with PGT. Methods PGT…”
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LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy by Vasilyev, Stanislav A., Tolmacheva, Ekaterina N., Vasilyeva, Oksana Yu, Markov, Anton V., Zhigalina, Daria I., Zatula, Lada A., Lee, Vasilissa A., Serdyukova, Ekaterina S., Sazhenova, Elena A., Nikitina, Tatyana V., Kashevarova, Anna A., Lebedev, Igor N.

“…Purpose High frequency of aneuploidy in meiosis and cleavage stage coincides with waves of epigenetic genome reprogramming that may indicate a possible…”
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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss by Essers, Rick, Lebedev, Igor N., Kurg, Ants, Fonova, Elizaveta A., Stevens, Servi J. C., Koeck, Rebekka M., von Rango, Ulrike, Brandts, Lloyd, Deligiannis, Spyridon Panagiotis, Nikitina, Tatyana V., Sazhenova, Elena A., Tolmacheva, Ekaterina N., Kashevarova, Anna A., Fedotov, Dmitry A., Demeneva, Viktoria V., Zhigalina, Daria I., Drozdov, Gleb V., Al-Nasiry, Salwan, Macville, Merryn V. E., van den Wijngaard, Arthur, Dreesen, Jos, Paulussen, Aimee, Hoischen, Alexander, Brunner, Han G., Salumets, Andres, Zamani Esteki, Masoud

“…Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence of these abnormalities and the allocation of (ab)normal cells in…”
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Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome by Zhalsanova, Irina Zh, Ravzhaeva, Ekatherina G, Postrigan, Anna E, Seitova, Gulnara N, Zhigalina, Daria I, Udalova, Vasilisa Yu, Danina, Maryana M, Kanivets, Ilya V, Skryabin, Nikolay A

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