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Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome. / Kolesnikova, I. S.; Tulupov, A. A.; Dolskiy, A. A. и др.

в: Bulletin of Siberian Medicine, Том 17, № 1, 01.01.2018, стр. 243-253.

Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование

Harvard

Kolesnikova, IS, Tulupov, AA, Dolskiy, AA, Lemskaya, NA, Savelov, AA, Petrovsky, ED, Antonov, AA, Maksimova, YV, Shorina, AR, Sergeeva, IG, Telepova, AS, Graphodatsky, AS & Yudkin, DV 2018, 'Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome', Bulletin of Siberian Medicine, Том. 17, № 1, стр. 243-253. https://doi.org/10.20538/1682-0363-2018-1-243-253

APA

Kolesnikova, I. S., Tulupov, A. A., Dolskiy, A. A., Lemskaya, N. A., Savelov, A. A., Petrovsky, E. D., Antonov, A. A., Maksimova, Y. V., Shorina, A. R., Sergeeva, I. G., Telepova, A. S., Graphodatsky, A. S., & Yudkin, D. V. (2018). Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome. Bulletin of Siberian Medicine, 17(1), 243-253. https://doi.org/10.20538/1682-0363-2018-1-243-253

Vancouver

Kolesnikova IS, Tulupov AA, Dolskiy AA, Lemskaya NA, Savelov AA, Petrovsky ED и др. Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome. Bulletin of Siberian Medicine. 2018 янв. 1;17(1):243-253. doi: 10.20538/1682-0363-2018-1-243-253

Author

Kolesnikova, I. S. ; Tulupov, A. A. ; Dolskiy, A. A. и др. / Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome. в: Bulletin of Siberian Medicine. 2018 ; Том 17, № 1. стр. 243-253.

BibTeX

@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 = "Бюллетень сибирской медицины",
issn = "1682-0363",
publisher = "Siberian State Medical University",
number = "1",

}

RIS

TY - JOUR

T1 - Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome

AU - Kolesnikova, I. S.

AU - Tulupov, A. A.

AU - Dolskiy, A. A.

AU - Lemskaya, N. A.

AU - Savelov, A. A.

AU - Petrovsky, E. D.

AU - Antonov, A. A.

AU - Maksimova, Yu V.

AU - Shorina, A. R.

AU - Sergeeva, I. G.

AU - Telepova, A. S.

AU - Graphodatsky, A. S.

AU - Yudkin, D. V.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - 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.

AB - 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.

KW - Brain tracts

KW - Chromosome 13

KW - FMRI

KW - Intellectual disability

KW - Nucleolus organizer region - NOR

KW - Ribosomal DNA - rDNA

KW - Ribosomal RNA - rRNA

UR - http://www.scopus.com/inward/record.url?scp=85049959773&partnerID=8YFLogxK

U2 - 10.20538/1682-0363-2018-1-243-253

DO - 10.20538/1682-0363-2018-1-243-253

M3 - Article

AN - SCOPUS:85049959773

VL - 17

SP - 243

EP - 253

JO - Бюллетень сибирской медицины

JF - Бюллетень сибирской медицины

SN - 1682-0363

IS - 1

ER -

ID: 15959297