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