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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.
Kashevarova AA, Nazarenko LP, Skryabin NA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Lopatkina ME, Salyukova OA, Chechetkina NN, Vorotelyak EA, Kalabusheva EP, Fishman VS, Kzhyshkowska J, Graziano C, Magini P, Romeo G, Lebedev IN. Kashevarova AA, et al. Among authors: vasilyev sa. Am J Med Genet A. 2018 Nov;176(11):2395-2403. doi: 10.1002/ajmg.a.40478. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244536
[SKEWED X-CHROMOSOME INACTIVATION IN HUMAN MISCARRIAGES].
Tolmacheva EN, Vasilyev SA, Sazhenova EA, Zhigalina DI, Grigorovich EI, Nikitina TV, Melnikov AA, Zhabina ES, Ivanova TV, Evtushenko ID, Lebedev IN. Tolmacheva EN, et al. Among authors: vasilyev sa. Tsitologiia. 2015;57(11):808-12. Tsitologiia. 2015. PMID: 27012095 Russian.
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.
Kashevarova AA, Belyaeva EO, Nikonov AM, Plotnikova OV, Skryabin NA, Nikitina TV, Vasilyev SA, Yakovleva YS, Babushkina NP, Tolmacheva EN, Lopatkina ME, Savchenko RR, Nazarenko LP, Lebedev IN. Kashevarova AA, et al. Among authors: vasilyev sa. Mol Cytogenet. 2018 Apr 27;11:26. doi: 10.1186/s13039-018-0375-3. eCollection 2018. Mol Cytogenet. 2018. PMID: 29736186 Free PMC article.
Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13.
Nikitina TV, Menzorov AG, Kashevarova AA, Gridina MM, Khabarova AA, Yakovleva YS, Lopatkina ME, Pristyazhnyuk IE, Vasilyev SA, Serov OL, Lebedev IN. Nikitina TV, et al. Among authors: vasilyev sa. Stem Cell Res. 2018 Dec;33:260-264. doi: 10.1016/j.scr.2018.11.009. Epub 2018 Nov 20. Stem Cell Res. 2018. PMID: 30500678 Free article.
34 results