Search Results - "Kashevarova, Anna"

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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Array CGH analysis of a cohort of Russian patients with intellectual disability by Kashevarova, Anna A., Nazarenko, Lyudmila P., Skryabin, Nikolay A., Salyukova, Olga A., Chechetkina, Nataliya N., Tolmacheva, Ekaterina N., Sazhenova, Elena A., Magini, Pamela, Graziano, Claudio, Romeo, Giovanni, Kučinskas, Vaidutis, Lebedev, Igor N.

“…The use of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated the identification of many new…”
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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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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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Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene by Gridina, Maria M., Matveeva, Natalia M., Fishman, Veniamin S., Menzorov, Aleksei G., Kizilova, Helen A., Beregovoy, Nikolay A., Kovrigin, Igor I., Pristyazhnyuk, Inna E., Oscorbin, Igor P., Filipenko, Maxim L., Kashevarova, Anna A., Skryabin, Nikolay A., Nikitina, Tatyana V., Sazhenova, Elena A., Nazarenko, Ludmila P., Lebedev, Igor N., Serov, Oleg L.

“…Copy number variations (CNVs) of the human CNTN6 gene caused by megabase-scale microdeletions or microduplications in the 3p26.3 region are often the cause of…”
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A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability by Kashevarova, Anna A., Nazarenko, Lyudmila P., Skryabin, Nikolay A., Nikitina, Tatiana V., Vasilyev, Stanislav A., Tolmacheva, Ekaterina N., Lopatkina, Mariya E., Salyukova, Olga A., Chechetkina, Nataliya N., Vorotelyak, Ekaterina A., Kalabusheva, Ekaterina P., Fishman, Veniamin S., Kzhyshkowska, Julia, Graziano, Claudio, Magini, Pamela, Romeo, Giovanni, Lebedev, Igor N.

“…The application of array‐based comparative genomic hybridization and next‐generation sequencing has identified many chromosomal microdeletions and…”
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A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech by Lebedev, Igor N., Nazarenko, Lyudmila P., Skryabin, Nikolay A., Babushkina, Nadezhda P., Kashevarova, Anna A.

“…The widespread application of array comparative genomic hybridization (aCGH) has provided new insights into the clinical significance of copy number variations…”
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Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability by Kashevarova, Anna A, Nazarenko, Lyudmila P, Schultz-Pedersen, Soren, Skryabin, Nikolay A, Salyukova, Olga A, Chechetkina, Nataliya N, Tolmacheva, Ekaterina N, Rudko, Aleksey A, Magini, Pamela, Graziano, Claudio, Romeo, Giovanni, Joss, Shelagh, Tümer, Zeynep, Lebedev, Igor N

“…Detection of submicroscopic chromosomal alterations in patients with a idiopathic intellectual disability (ID) allows significant improvement in delineation of…”
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46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study by Kashevarova, Anna A, Nikitina, Tatyana V, Mikhailik, Larisa I, Belyaeva, Elena O, Vasilyev, Stanislav A, Lopatkina, Mariya E, Fedotov, Dmitry A, Fonova, Elizaveta A, Zarubin, Aleksei A, Sivtsev, Aleksei A, Skryabin, Nikolay A, Nazarenko, Lyudmila P, Lebedev, Igor N

“…Ring chromosome 8 (r(8)) is one of the least frequent ring chromosomes. Usually, maternal chromosome 8 forms a ring, which can be lost from cells due to…”
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Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22 by Kashevarova, Anna A, Belyaeva, Elena O, Nikonov, Aleksandr M, Plotnikova, Olga V, Skryabin, Nikolay A, Nikitina, Tatyana V, Vasilyev, Stanislav A, Yakovleva, Yulia S, Babushkina, Nadezda P, Tolmacheva, Ekaterina N, Lopatkina, Mariya E, Savchenko, Renata R, Nazarenko, Lyudmila P, Lebedev, Igor N

“…Ring chromosome instability may influence a patient's phenotype and challenge its interpretation. Here, we report a 4-year-old girl with a compound phenotype…”
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Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and Sporadic Pregnancy Losses by Nikitina, Tatiana V., Sazhenova, Elena A., Tolmacheva, Ekaterina N., Sukhanova, Natalia N., Kashevarova, Anna A., Skryabin, Nikolay A., Vasilyev, Stanislav A., Nemtseva, Tatiana N., Yuriev, Sergey Y., Lebedev, Igor N.

“…Background: The majority of miscarriages are sporadic; however, 1-5% of couples experience recurrent pregnancy loss (RPL). Approximately 50-60% of miscarriages…”
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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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Germline mosaicism does not explain the maternal age effect on trisomy by Rowsey, Ross, Kashevarova, Anna, Murdoch, Brenda, Dickenson, Carrie, Woodruff, Tracey, Cheng, Edith, Hunt, Patricia, Hassold, Terry

“…A variety of hypotheses have been proposed to explain the association between trisomy and increasing maternal age in humans, virtually all of which assume that…”
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