Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome

por 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.
Publicado 2022

Genomic structural variations for cardiovascular and metabolic comorbidity

por Nazarenko, Maria S., Sleptcov, Aleksei A., Lebedev, Igor N., Skryabin, Nikolay A., Markov, Anton V., Golubenko, Maria V., Koroleva, Iuliia A., Kazancev, Anton N., Barbarash, Olga L., Puzyrev, Valery P.
Publicado 2017

Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and Sporadic Pregnancy Losses

por 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.
Publicado 2016

Phenotypic Drift as a Cause for Intratumoral Morphological Heterogeneity of Invasive Ductal Breast Carcinoma Not Otherwise Specified

por Zavyalova, Marina V., Denisov, Evgeny V., Tashireva, Lubov A., Gerashchenko, Tatiana S., Litviakov, Nikolay V., Skryabin, Nikolay A., Vtorushin, Sergey V., Telegina, Nadezhda S., Slonimskaya, Elena M., Cherdyntseva, Nadezhda V., Perelmuter, Vladimir M.
Publicado 2013

The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing

por Karamysheva, Tatyana V., Gayner, Tatyana A., Elisaphenko, Eugeny A., Trifonov, Vladimir A., Zakirova, Elvira G., Orishchenko, Konstantin E., Prokhorovich, Mariya A., Lopatkina, Maria E., Skryabin, Nikolay A., Lebedev, Igor N., Rubtsov, Nikolay B.
Publicado 2022

Clinically relevant morphological structures in breast cancer represent transcriptionally distinct tumor cell populations with varied degrees of epithelial-mesenchymal transition a...

por Denisov, Evgeny V., Skryabin, Nikolay A., Gerashchenko, Tatiana S., Tashireva, Lubov A., Wilhelm, Jochen, Buldakov, Mikhail A., Sleptcov, Aleksei A., Lebedev, Igor N., Vtorushin, Sergey V., Zavyalova, Marina V., Cherdyntseva, Nadezhda V., Perelmuter, Vladimir M.
Publicado 2017

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

por 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
Publicado 2014

46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study

por 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.
Publicado 2020

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

por 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.
Publicado 2018