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Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
Tolmacheva EN, Kashevarova AA, Nazarenko LP, Minaycheva LI, Skryabin NA, Lopatkina ME, Nikitina TV, Sazhenova EA, Belyaeva EO, Fonova EA, Salyukova OA, Tarabykin VS, Lebedev IN. Tolmacheva EN, et al. Among authors: skryabin na. Cytogenet Genome Res. 2020;160(5):245-254. doi: 10.1159/000508050. Epub 2020 May 30. Cytogenet Genome Res. 2020. PMID: 32485717
[Clinical and genetic analysis of idiopathic intellectual disability based on array comparative genomic hybridization].
Kashevarova AA, Skryabin NA, Cheremnykh AD, Tolmacheva EN, Sazhenova EA, Salyukova OA, Chechetkina NN, Didenko LI, Sukhanova NN, Yakovleva YS, Torkhova NB, Nazarenko LP, Magini P, Graziano C, Romeo G, Lebedev IN. Kashevarova AA, et al. Among authors: skryabin na. Zh Nevrol Psikhiatr Im S S Korsakova. 2013;113(9):70-4. Zh Nevrol Psikhiatr Im S S Korsakova. 2013. PMID: 24107884 Russian.
Array CGH analysis of a cohort of Russian patients with intellectual disability.
Kashevarova AA, Nazarenko LP, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Sazhenova EA, Magini P, Graziano C, Romeo G, Kučinskas V, Lebedev IN. Kashevarova AA, et al. Among authors: skryabin na. Gene. 2014 Feb 15;536(1):145-50. doi: 10.1016/j.gene.2013.11.029. Epub 2013 Nov 27. Gene. 2014. PMID: 24291026
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
Kashevarova AA, Nazarenko LP, Schultz-Pedersen S, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Rudko AA, Magini P, Graziano C, Romeo G, Joss S, Tümer Z, Lebedev IN. Kashevarova AA, et al. Among authors: skryabin na. Mol Cytogenet. 2014 Dec 31;7(1):97. doi: 10.1186/s13039-014-0097-0. eCollection 2014. Mol Cytogenet. 2014. PMID: 25606055 Free PMC article.
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.
Gridina MM, Matveeva NM, Fishman VS, Menzorov AG, Kizilova HA, Beregovoy NA, Kovrigin II, Pristyazhnyuk IE, Oscorbin IP, Filipenko ML, Kashevarova AA, Skryabin NA, Nikitina TV, Sazhenova EA, Nazarenko LP, Lebedev IN, Serov OL. Gridina MM, et al. Among authors: skryabin na. Mol Neurobiol. 2018 Aug;55(8):6533-6546. doi: 10.1007/s12035-017-0851-5. Epub 2018 Jan 11. Mol Neurobiol. 2018. PMID: 29327201
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: skryabin na. Mol Cytogenet. 2018 Apr 27;11:26. doi: 10.1186/s13039-018-0375-3. eCollection 2018. Mol Cytogenet. 2018. PMID: 29736186 Free PMC article.
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: skryabin na. 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
Induced pluripotent stem cell line, ICAGi001-A, derived from human skin fibroblasts of a patient with 2p25.3 deletion and 2p25.3-p23.3 inverted duplication.
Khabarova AA, Pristyazhnyuk IE, Nikitina TV, Gayner TA, Torkhova NB, Skryabin NA, Kashevarova AA, Babushkina NP, Markova ZG, Minzhenkova ME, Nazarenko LP, Shilova NV, Shorina AR, Lebedev IN, Serov OL. Khabarova AA, et al. Among authors: skryabin na. Stem Cell Res. 2019 Jan;34:101377. doi: 10.1016/j.scr.2018.101377. Epub 2018 Dec 18. Stem Cell Res. 2019. PMID: 30616144 Free article.
Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability.
Shnaider TA, Pristyazhnyuk IE, Menzorov AG, Matveeva NM, Nikitina TV, Khabarova AA, Skryabin NA, Kashevarova AA, Lopatkina ME, Nazarenko LP, Lebedev IN, Serov OL. Shnaider TA, et al. Among authors: skryabin na. Stem Cell Res. 2019 Dec;41:101591. doi: 10.1016/j.scr.2019.101591. Epub 2019 Oct 21. Stem Cell Res. 2019. PMID: 31678775 Free article.
32 results