@article{ba57691436f1486ca82942e3a1ee6ee8,
title = "Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome",
abstract = "A study of a child with intellectual disability revealed an enlarged p-arm in chromosome 13 and amplified rDNA. qRT-PCR showed an approximately 6-fold increased level of rRNA in the patient's blood samples. fMRI study revealed changes in uncinate fasciculus. His father is a carrier of the same chromosome, healthy and has a normal level of rRNA.",
keywords = "Brain tracts, Chromosome 13, FMRI, Intellectual disability, Nucleolus organizer region - NOR, Ribosomal DNA - rDNA, Ribosomal RNA - rRNA",
author = "Kolesnikova, {I. S.} and Tulupov, {A. A.} and Dolskiy, {A. A.} and Lemskaya, {N. A.} and Savelov, {A. A.} and Petrovsky, {E. D.} and Antonov, {A. A.} and Maksimova, {Yu V.} and Shorina, {A. R.} and Sergeeva, {I. G.} and Telepova, {A. S.} and Graphodatsky, {A. S.} and Yudkin, {D. V.}",
year = "2018",
month = jan,
day = "1",
doi = "10.20538/1682-0363-2018-1-243-253",
language = "English",
volume = "17",
pages = "243--253",
journal = "Bulletin of Siberian Medicine",
issn = "1682-0363",
publisher = "Siberian State Medical University",
number = "1",
}