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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.
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.
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: salyukova oa.
Gene. 2014 Feb 15;536(1):145-50. doi: 10.1016/j.gene.2013.11.029. Epub 2013 Nov 27.
Gene. 2014.
PMID: 24291026
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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: salyukova oa.
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
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[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: salyukova oa.
Zh Nevrol Psikhiatr Im S S Korsakova. 2013;113(9):70-4.
Zh Nevrol Psikhiatr Im S S Korsakova. 2013.
PMID: 24107884
Russian.
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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: salyukova oa.
Cytogenet Genome Res. 2020;160(5):245-254. doi: 10.1159/000508050. Epub 2020 May 30.
Cytogenet Genome Res. 2020.
PMID: 32485717
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Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.
Sivtsev AA, Zhalsanova IZ, Postrigan AE, Fonova EA, Vasilyeva OY, Zarubin AA, Minaicheva LI, Agafonova AA, Petrova VV, Ravzhaeva EG, Salyukova OA, Skryabin NA.
Sivtsev AA, et al. Among authors: salyukova oa.
Klin Lab Diagn. 2022 Apr 17;67(4):250-256. doi: 10.51620/0869-2084-2022-67-4-250-256.
Klin Lab Diagn. 2022.
PMID: 35575400
English.
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